Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
A growth differentiation factor that plays a role in the genesis of left-right asymmetry during vertebrate development. Evidence for this role is seen in MICE where loss of growth differentiation factor 1 function results in right-left isomerism of visceral organs. In HUMANS heterozygous loss of growth differentiation factor 1 function has been associated with CONGENITAL HEART DEFECTS and TRANSPOSITION OF GREAT VESSELS.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A family of intercellular signaling proteins that play and important role in regulating the development of many TISSUES and organs. Their name derives from the observation of a hedgehog-like appearance in DROSOPHILA embryos with genetic mutations that block their action.
The anterior of the three primitive cerebral vesicles of the embryonic brain arising from the NEURAL TUBE. It subdivides to form DIENCEPHALON and TELENCEPHALON. (Stedmans Medical Dictionary, 27th ed)
Abortion induced to save the life or health of a pregnant woman. (From Dorland, 28th ed)
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
A mammalian fetus expelled by INDUCED ABORTION or SPONTANEOUS ABORTION.
A synthetic steroid with progestational activity.
A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A large family of cell regulatory proteins which are structurally related to TRANSFORMING GROWTH FACTOR BETA. The superfamily is subdivided into at least three related protein families: BONE MORPHOGENETIC PROTEINS; GROWTH DIFFERENTIATION FACTORS; and TRANSFORMING GROWTH FACTORS.
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
Congenital absence of or defects in structures of the eye; may also be hereditary.
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.

Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly. (1/183)

Proper dorsal-ventral patterning in the developing central nervous system requires signals from both the dorsal and ventral portions of the neural tube. Data from multiple studies have demonstrated that bone morphogenetic proteins (BMPs) and Sonic hedgehog protein are secreted factors that regulate dorsal and ventral specification, respectively, within the caudal neural tube. In the developing rostral central nervous system Sonic hedgehog protein also participates in ventral regionalization; however, the roles of BMPs in the developing brain are less clear. We hypothesized that BMPs also play a role in dorsal specification of the vertebrate forebrain. To test our hypothesis we implanted beads soaked in recombinant BMP5 or BMP4 into the neural tube of the chicken forebrain. Experimental embryos showed a loss of the basal telencephalon that resulted in holoprosencephaly (a single cerebral hemisphere), cyclopia (a single midline eye), and loss of ventral midline structures. In situ hybridization using a panel of probes to genes expressed in the dorsal and ventral forebrain revealed the loss of ventral markers with the maintenance of dorsal markers. Furthermore, we found that the loss of the basal telencephalon was the result of excessive cell death and not a change in cell fates. These data provide evidence that BMP signaling participates in dorsal-ventral patterning of the developing brain in vivo, and disturbances in dorsal-ventral signaling result in specific malformations of the forebrain.  (+info)

First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. (2/183)

We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.  (+info)

Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. (3/183)

Alobar holoprosencephaly is an intracranial abnormality characterized by failure of proper cleavage of the prosencephalon, accompanied by incomplete midfacial development. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed in the first trimester. We report a case of alobar holoprosencephaly diagnosed at 10 weeks of gestation.  (+info)

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (4/183)

Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic hedgehog ( SHH ), on 7q36, has been identified as the first HPE-causing gene both in mouse and humans. In order to delineate the phenotype of specific SHH mutations, we described the expression of the SHH gene during early human embryogenesis and investigated the phenotype of novel SHH mutations. In situ hybridization studies were performed on paraffin-embedded human embryo sections at three different development stages. These studies show that SHH is expressed in the notochord, the floorplate, the brain, the zone of polarizing activity and the gut. We also report on the phenotype of four novel mutations identified in 40 HPE families (two in isolated HPE and two in familial HPE). Expressivity ranged from alobar HPE to microcephaly and hypoplasia of the pituitary gland in one family, and from HPE to an asymptomatic form in another family. No SHH mutation was found in six polymalformed cases combining HPE with other defects, such as skeletal, limb, cardiac, anal and/or renal anomalies. This study confirms the genetic heterogeneity of HPE, and further demonstrates that SHH mutations are associated with a broad spectrum of cerebral midline defects.  (+info)

oto is a homeotic locus with a role in anteroposterior development that is partially redundant with Lim1. (5/183)

Genetic control of mammalian head development involves mechanisms that are shared with trunk development as well as mechanisms that are independent. For example, mutations in the nodal gene disrupt axis formation and head development while mutations in the Otx2 or Lim1 genes block head development without disrupting development of the trunk. We show here that the oto mutation on mouse chromosome 1 defines a locus with a critical role in anterior development. The oto mutation disrupts development of the telencephalic and optic vesicles, the pharyngeal endoderm and the first branchial arch. Also, oto embryos have dose-dependent, posterior homeotic transformations throughout the axial skeleton. To further dissect the role of the oto locus in head development, we crossed mice carrying oto and Lim1 mutations. Interactions between the two mutations indicate that the role of oto in the regulation of head development is partially redundant with that of Lim1. The phenotype of oto embryos points to an early and critical role for oto in the development of forebrain subregions. Transformations of the vertebrae in oto embryos reveal a Lim1-independent role in the establishment of positional information in the trunk.  (+info)

Coexistent holoprosencephaly and Chiari II malformation. (6/183)

Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturbance to the mesenchyme in early embryologic life may be the cause of both malformations.  (+info)

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. (7/183)

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.  (+info)

Inhibition of sonic hedgehog signaling in vivo results in craniofacial neural crest cell death. (8/183)

BACKGROUND: Sonic hedgehog (Shh) is well known for its role in patterning tissues, including structures of the head. Haploinsufficiency for SHH in humans results in holoprosencephaly, a syndrome characterized by facial and forebrain abnormalities. Shh null mice have cyclopia and loss of branchial arch structures. It is unclear, however, whether these phenotypes arise solely from the early function of Shh in patterning midline structures, or whether Shh plays other roles in head development. RESULTS: To address the role of Shh after floorplate induction, we inhibited Shh signaling by injecting hybridoma cells that secrete a function-blocking anti-Shh antibody into the chick cranial mesenchyme. The antibody subsequently bound to Shh in the floorplate, notochord, and the pharyngeal endoderm. Perturbation of Shh signaling at this stage resulted in a significant reduction in head size after 1 day, loss of branchial arch structures after 2 days, and embryos with smaller heads after 7 days. Cell death was significantly increased in the neural tube and neural crest after 1 day, and neural crest cell death was not secondary to the loss of neural tube cells. CONCLUSIONS: Reduction of Shh signaling after neural tube closure resulted in a transient decrease in neural tube cell proliferation and an extensive increase in cell death in the neural tube and neural crest, which in turn resulted in decreased head size. The phenotypes observed after reduction of Shh are similar to those observed after cranial neural crest ablation. Thus, our results demonstrate a role for Shh in coordinating the proliferation and survival of cells of the neural tube and cranial neural crest.  (+info)

Holoprosencephaly is a congenital brain malformation that occurs due to the failure of the prosencephalon (the forebrain) to properly divide into the two hemispheres during embryonic development. This condition can vary in severity, from mild anomalies to severe neurological defects and facial abnormalities.

There are four primary types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant (MIV). Alobar holoprosencephaly is the most severe form, where the forebrain fails to divide into separate hemispheres, and there is a single ventricle instead of two. Semilobar holoprosencephaly has some separation of the hemispheres but not completely. Lobar holoprosencephaly shows more separation of the hemispheres, with a more typical appearance of the cerebral cortex. MIV is the mildest form and involves an abnormal development of the corpus callosum and third ventricle.

Facial anomalies often accompany holoprosencephaly, such as a single central eye (cyclopia), closely spaced eyes (hypotelorism), a proboscis above the nose, or a flat nasal bridge with a median cleft lip and palate. The severity of these facial abnormalities can correlate with the degree of brain malformation.

Holoprosencephaly is caused by genetic mutations, chromosomal abnormalities, or environmental factors that disrupt normal embryonic development. It affects approximately 1 in 250 conceptuses but has a lower prevalence at birth due to early pregnancy loss. The condition can be diagnosed through prenatal ultrasound, fetal MRI, or postnatal imaging techniques such as CT or MRI scans. Management of holoprosencephaly involves multidisciplinary care, addressing neurological, developmental, and medical needs.

Hypertelorism is a medical term that refers to an ocular condition where the distance between two eyes (interpupillary distance) is abnormally increased. It's typically defined as an interpupillary distance that measures more than 2 standard deviations beyond the mean for a given age, gender, and race.

This condition can be associated with various genetic syndromes or conditions such as craniosynostosis (premature fusion of skull sutures), fetal alcohol syndrome, and certain chromosomal abnormalities like Down syndrome. Hypertelorism may also occur in isolation without any other associated anomalies.

It's important to note that hypertelorism can have cosmetic implications, particularly if the distance between the eyes is significantly increased, as it may affect the overall symmetry and appearance of the face. However, in most cases, this condition does not directly impact vision unless there are other related structural abnormalities of the eye or orbit.

Growth Differentiation Factor 1 (GDF1), also known as Vascular Endothelial Growth Factor E (VEGE), is a protein that belongs to the transforming growth factor-beta (TGF-β) superfamily. It plays crucial roles in embryonic development, including the regulation of cell growth, differentiation, and apoptosis (programmed cell death). GDF1 is essential for proper patterning and morphogenesis during gastrulation and organogenesis. In adults, GDF1 expression is limited to certain tissues, such as the reproductive system, where it continues to regulate cellular processes.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Hedgehog proteins are a group of signaling molecules that play crucial roles in the development and regulation of various biological processes in animals. They are named after the hedgehog mutant fruit flies, which have spiky bristles due to defects in this pathway. These proteins are involved in cell growth, differentiation, and tissue regeneration. They exert their effects by binding to specific receptors on the surface of target cells, leading to a cascade of intracellular signaling events that ultimately influence gene expression and cell behavior.

There are three main types of Hedgehog proteins in mammals: Sonic hedgehog (Shh), Indian hedgehog (Ihh), and Desert hedgehog (Dhh). These protecules undergo post-translational modifications, including cleavage and lipid modification, which are essential for their activity. Dysregulation of Hedgehog signaling has been implicated in various diseases, including cancer, developmental abnormalities, and degenerative disorders.

The prosencephalon is a term used in the field of neuroembryology, which refers to the developmental stage of the forebrain in the embryonic nervous system. It is one of the three primary vesicles that form during the initial stages of neurulation, along with the mesencephalon (midbrain) and rhombencephalon (hindbrain).

The prosencephalon further differentiates into two secondary vesicles: the telencephalon and diencephalon. The telencephalon gives rise to structures such as the cerebral cortex, basal ganglia, and olfactory bulbs, while the diencephalon develops into structures like the thalamus, hypothalamus, and epithalamus.

It is important to note that 'prosencephalon' itself is not used as a medical term in adult neuroanatomy, but it is crucial for understanding the development of the human brain during embryogenesis.

A therapeutic abortion is the deliberate termination of a pregnancy before viability (the ability of the fetus to survive outside the womb), which is generally considered to be around 24 weeks of gestation. The term "therapeutic" is used to describe abortions that are performed for medical reasons, such as to protect the life or health of the pregnant individual, or in cases where the fetus has a severe abnormality and cannot survive outside the womb.

Therapeutic abortions may be recommended in situations where continuing the pregnancy poses a significant risk to the health or life of the pregnant individual. For example, if a pregnant person has a serious medical condition such as heart disease, cancer, or severe pre-eclampsia, continuing the pregnancy could worsen their condition and put them at risk of serious complications or even death. In these cases, a therapeutic abortion may be necessary to protect the health or life of the pregnant individual.

Therapeutic abortions may also be recommended in cases where the fetus has a severe abnormality that is not compatible with life outside the womb. For example, if the fetus has a condition such as anencephaly (a neural tube defect where the brain and skull do not form properly), or a chromosomal abnormality such as Trisomy 13 or 18, continuing the pregnancy may result in a stillbirth or a short, painful life for the infant after birth. In these cases, a therapeutic abortion may be considered a compassionate option to prevent unnecessary suffering.

It's important to note that the decision to undergo a therapeutic abortion is a deeply personal one, and should be made in consultation with medical professionals and trusted family members or support networks. Ultimately, the decision should be based on what is best for the physical and emotional health of the pregnant individual, taking into account their values, beliefs, and circumstances.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

An aborted fetus refers to a developing human organism that is expelled or removed from the uterus before it is viable, typically as a result of an induced abortion. An abortion is a medical procedure that intentionally ends a pregnancy and can be performed through various methods, depending on the stage of the pregnancy.

It's important to note that the term "abortion" is often used in different contexts and may carry different connotations depending on one's perspective. In medical terminology, an abortion refers specifically to the intentional ending of a pregnancy before viability. However, in other contexts, the term may be used more broadly to refer to any spontaneous or induced loss of a pregnancy, including miscarriages and stillbirths.

The definition of "viable" can vary, but it generally refers to the point at which a fetus can survive outside the uterus with medical assistance, typically around 24 weeks of gestation. Fetal viability is a complex issue that depends on many factors, including the availability and accessibility of medical technology and resources.

In summary, an aborted fetus is a developing human organism that is intentionally expelled or removed from the uterus before it is viable, typically as a result of a medical procedure called an abortion.

Allylestrenol is a synthetic progestogen medication, which is a type of steroid hormone. It is similar in structure to the natural female sex hormone progesterone and is used in the treatment of various gynecological conditions such as menstrual disorders, endometriosis, and threatened miscarriage.

Progestogens are important for maintaining pregnancy by supporting the lining of the uterus (endometrium) and preventing muscle contractions that could lead to a miscarriage. Allylestrenol has been used as an alternative to natural progesterone because it is more potent and has a longer duration of action.

However, like other synthetic hormones, allylestrenol can cause side effects such as nausea, vomiting, headache, breast tenderness, mood changes, and irregular menstrual bleeding. It should be used with caution in women with a history of thromboembolic disease (blood clots) or liver dysfunction.

It is important to note that the use of allylestrenol and other hormonal medications should always be under the supervision of a healthcare professional, who can monitor their effectiveness and potential side effects.

Choanal atresia is a medical condition where the back of the nasal passage (choana) is blocked or narrowed, usually by bone, membrane, or a combination of both. This blockage can be present at birth (congenital) or acquired later in life due to various reasons such as infection, injury, or tumor.

Congenital choanal atresia is more common and occurs during fetal development when the nasal passages fail to open properly. It can affect one or both sides of the nasal passage and can be unilateral (affecting one side) or bilateral (affecting both sides). Bilateral choanal atresia can cause breathing difficulties in newborns, as they are obligate nose breathers and cannot breathe through their mouth yet.

Treatment for choanal atresia typically involves surgical intervention to open up the nasal passage and restore normal breathing. The specific type of surgery may depend on the location and extent of the blockage. In some cases, follow-up surgeries or additional treatments may be necessary to ensure proper functioning of the nasal passage.

Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.

During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.

Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.

Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

The TGF-beta (Transforming Growth Factor-beta) superfamily proteins are a group of structurally related signaling molecules that play crucial roles in the regulation of various cellular processes, including cell growth, differentiation, apoptosis, and extracellular matrix production. This superfamily includes TGF-betas, bone morphogenetic proteins (BMPs), activins, inhibins, and several other members. These proteins bind to and signal through type I and type II serine/threonine kinase receptors, leading to the activation of intracellular Smad proteins and subsequent regulation of gene expression. Dysregulation of TGF-beta superfamily proteins has been implicated in various human diseases, such as fibrosis, cancer, and autoimmune disorders.

Polyhydramnios is a medical condition characterized by an excessive accumulation of amniotic fluid in the sac surrounding the fetus during pregnancy, typically defined as an amniotic fluid index (AFI) greater than 24 cm or a single deepest pocket (SDP) measurement of more than 8 cm. It occurs in approximately 1-2% of pregnancies and can be associated with various maternal, fetal, and genetic conditions. If left untreated, polyhydramnios may increase the risk of premature labor, premature rupture of membranes, and other pregnancy complications. Proper diagnosis and management are essential to ensure a healthy pregnancy outcome.

The frontal bone is the bone that forms the forehead and the upper part of the eye sockets (orbits) in the skull. It is a single, flat bone that has a prominent ridge in the middle called the superior sagittal sinus, which contains venous blood. The frontal bone articulates with several other bones, including the parietal bones at the sides and back, the nasal bones in the center of the face, and the zygomatic (cheek) bones at the lower sides of the orbits.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

Polydactyly is a genetic condition where an individual is born with more than the usual number of fingers or toes, often caused by mutations in specific genes. It can occur as an isolated trait or as part of a genetic syndrome. The additional digit(s) may be fully formed and functional, underdeveloped, or just a small bump. Polydactyly is one of the most common congenital limb abnormalities.

GeneReview/NIH/UW entry on Holoprosencephaly Overview holoprosencephaly at NINDS What do we know about holoprosencephaly - ... The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. "About Holoprosencephaly". Archived from ... holoprosencephaly type 3 a.k.a. HPE3), TGIF, ZIC2, SIX3 and BOC genes. Although many children with holoprosencephaly have ... The severity of holoprosencephaly is highly variable. In less severe cases, babies are born with normal or near-normal brain ...
... , or Yim-Ebbin syndrome, is a very rare multi-systemic genetic disorder which ... "OMIM Entry - % 601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH". omim.org. Retrieved 2022-05-26. A. J., D. K. ... "Brachial amelia, cleft lip, and holoprosencephaly - About the Disease - Genetic and Rare Diseases Information Center". ... 8: 3-5. Thomas, M.; Donnai, D. (1994). "Bilateral brachial amelia with facial clefts and holoprosencephaly". Clinical ...
HLCS Holoprosencephaly-2; 157170; SIX3 Holoprosencephaly-3; 142945; SHH Holoprosencephaly-4; 142946; TGIF Holoprosencephaly-5; ... 609637; ZIC2 Holoprosencephaly-7; 610828; PTCH1 Holoprosencephaly-9; 610829; GLI2 Holt-Oram syndrome; 142900; TBX5 ...
Holoprosencephaly is the most common structural anomaly of the human forebrain. Recently ZIC2 has also been shown to be ... For example, mutation of ZIC2 is known to result in holoprosencephaly due to defect in the function of the organizer region ( ... Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M (1998). "Holoprosencephaly due to ... Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM (October 2008). "Zic2-associated holoprosencephaly is caused ...
Grades 6 to 9 featured severe holoprosencephaly. Grades 10 to 12 featured aprosopus (absence of the face and most of the head) ... The most severe cases, often called cyclopia-holoprosencephaly complex, are almost invariably lethal, and patients show ... Otocephaly is classified into four groups: (1) agnathia alone; (2) agnathia with holoprosencephaly; (3) agnathia with situs ... Endotracheal intubation is difficult due to severe airway malformations, and only approximately 7 non-holoprosencephaly ...
"New insight offered in holoprosencephaly". UPI. Doss, Will. "Stem Cells Lead to Better Understanding of Retinal Development , ...
"OMIM Entry - 306990 - HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE". www.omim.org. Retrieved 2022-05-12. " ... "Holoprosencephaly-hypokinesia syndrome (Morse syndrome)". thefetus.net. Retrieved 2022-05-12. (Orphaned articles from May 2022 ... in November 1987 when he reported two fetuses with hypokinesia, and microcephaly caused by holoprosencephaly. Both of the ... Hockey, A.; Crowhurst, J.; Cullity, G. (November 1988). "Microcephaly, holoprosencephaly, hypokinesia--second report of a new ...
"Holoprosencephaly-craniosynostosis syndrome (Concept Id: C1832424)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05. "Hunter- ...
... holoprosencephaly-polydactyly syndrome'. After the publications by Verloes, A., S. Aymé et al. 'holoprosencephaly-polydactyly ... Hydrocephalus and holoprosencephaly were present in all. The publication noted the work of Young and Madders and suggested that ... 2006). "Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1". ... May 1991). "Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith- ...
Defects in neural development can lead to malformations such as holoprosencephaly, and a wide variety of neurological disorders ... Failure of Shh-modulated differentiation causes holoprosencephaly. The dorsal neural tube is patterned by BMPs from the ...
This malformation is always fatal, and it is worth noting that there are lesser cases of holoprosencephaly that are not always ... Cyclopamine causes the most advanced form of holoprosencephaly. Because it blocks Shh signaling, the embryonic brain no longer ...
In some children without "classic" holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing ... Holoprosencephaly has been reported in some people with ring 18. This is due to the deletion of the TGIF gene on the short arm ... Solomon et al (2010). Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet ... Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a ...
In severe cases it can cause cyclopia and holoprosencephaly. Jervine's biological activity is mediated via its interaction with ...
In some children without "classic" holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing ... Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a ... About 10-15% of individuals with 18p- have holoprosencephaly.[citation needed] Approximately 10% of people with 18p- have a ... TGIF-Mutations and deletions of this gene have been associated with holoprosencephaly. Penetrance is incomplete, meaning that a ...
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. Google Scholar citation ... Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. ... Through collaborative research, genes causative in holoprosencephaly, renal carcinoma, Williams syndrome, sacral agenesis, ...
Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. It has also ... Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M (1995). "Physical mapping of the holoprosencephaly critical ... mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis". Prenat. Diagn. 22 (1): 5-7. doi:10.1002/pd. ... "The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly ...
Chen, C. P.; Shih, S. L.; Liu, F. F.; Jan, S. W. (1 March 1997). "Cebocephaly, alobar holoprosencephaly, spina bifida, and ... It is part of a group of defects called holoprosencephaly. Before birth, cebocephaly may sometimes be diagnosed using ... Kilic, Nizamettin; Yazici, Zeynep (1 September 2005). "A case of holoprosencephaly and cebocephaly associated to torch ... alobar holoprosencephaly and cebocephaly in a fetus". Prenatal Diagnosis. 18 (4): 393-398. doi:10.1002/(SICI)1097-0223(199804) ...
... is seen in agnathia-holoprosencephaly, otocephaly, and Ivemark syndrome. X-rays or CT scans of the mandible and ...
... the chance to have another pregnancy affected with holoprosencephaly is about 6%. There is no treatment for holoprosencephaly ... Although the causes of most cases of holoprosencephaly remain unknown, some may be due to dominant or chromosome causes. Such ... Holoprosencephaly Cephalic disorder Cyclopia (Articles needing additional medical references from October 2019, All articles ... Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly. Ethmocephaly is the least common facial anomaly. It ...
She did not have a nose and her brain did not separate into two separate hemispheres (holoprosencephaly). The child died one ... Cyclopia (named after the Greek mythology character cyclopes), also known as alobar holoprosencephaly, is the most extreme form ... "Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly". Human Molecular Genetics. 6 (11): 1847-1853. doi ... of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon ...
Mutations in SIX3 are the cause of a severe brain malformation, called holoprosencephaly type 2 (HPE2). In HPE2, the brain ... Hecht BK, Hecht F, Münke M (Jul 1991). "Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band ... Laflamme C, Filion C, Labelle Y (Dec 2004). "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: ... "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly". Nature Genetics. 22 (2): 196-8. doi:10.1038/9718 ...
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome "Porencephaly cerebellar hypoplasia internal malformations". Archived ...
Mutations in CDON gene has been associated with Holoprosencephaly which is structural anomaly of the brain, in which the ... Cole F, Krauss RS (March 2003). "Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon". Current Biology ... CDON mutations synergistically interact with prenatal alcohol exposure to increase susceptibility to Holoprosencephaly. CDON ... result in holoprosencephaly and defective interactions with other hedgehog receptors". American Journal of Human Genetics. 89 ( ...
... holoprosencephaly and homozygous IVS8-1G-->C genotype". American Journal of Medical Genetics. 103 (1): 75-80. doi:10.1002/1096- ...
Holoprosencephaly is a condition most commonly caused by a mutation of the SHH gene that causes improper separation or turn of ... Mutations in the human sonic hedgehog gene SHH cause holoprosencephaly type 3 HPE3, as a result of the loss of the ventral ... The gene has been linked to a condition known as holoprosencephaly, which can result in severe brain, skull and facial defects ... Mutations in this gene can cause holoprosencephaly, a failure of splitting in the cerebral hemispheres, as demonstrated in an ...
October 2011). "Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo- ...
Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A (July 2010). "Holoprosencephaly and holoprosencephaly- ... Some of these patients present cleft lip and palate among the holoprosencephaly features, and missense variants in PTCH1 were ... Mutations in PTCH1 cause Gorlin syndrome and mutations have also been found in holoprosencephaly patients. ... are associated with holoprosencephaly". Hum. Genet. 110 (4): 297-301. doi:10.1007/s00439-002-0695-5. PMID 11941477. S2CID ...
"Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1". Journal of ...
"A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36". Nat. Genet. 11 (1): 93-5. doi: ...
At the rate between 5% and 29% holoprosencephaly and meningocele occurs in patients too. Distinctive facial features for MEB ...
GeneReview/NIH/UW entry on Holoprosencephaly Overview holoprosencephaly at NINDS What do we know about holoprosencephaly - ... The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. "About Holoprosencephaly". Archived from ... holoprosencephaly type 3 a.k.a. HPE3), TGIF, ZIC2, SIX3 and BOC genes. Although many children with holoprosencephaly have ... The severity of holoprosencephaly is highly variable. In less severe cases, babies are born with normal or near-normal brain ...
Inform genetic counseling of family members of an individual with holoprosencephaly. ... 2. Genetic Causes of Holoprosencephaly * 3. Evaluation Strategies to Identify the Genetic Cause of Holoprosencephaly in a ... Goal 2: Review the genetic causes of holoprosencephaly. Goal 3: Provide an evaluation strategy to identify (when possible) the ... The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of holoprosencephaly and ...
... alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, and a middle interhemispheric fusion variant ( ... Holoprosencephaly is a structural malformation of the brain that results from complete or incomplete nonseparation of the ... prosencephalon (forebrain). Classification Holoprosencephaly is categorized into 4 subtypes: ... Holoprosencephaly has four subtypes: alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, and a ...
... BMC Med Genet. 2017 May 19;18(1 ... We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly ( ...
This divides into the two hemispheres, and should this division fail holoprosencephaly or a single cerebral hemisphere occurs ...
Find symptoms and other information about Agnathia-holoprosencephaly-situs inversus syndrome. ... The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. People With. Agnathia-Holoprosencephaly- ... Holoprosencephaly Hypoplasia of penis Low-set, posteriorly rotated ears Mandibular aplasia Microglossia Narrow internal ... Agnathia-holoprosencephaly-situs inversus syndrome is a genetic disease, which means that it is caused by one or more genes not ...
Background Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from ... Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly ... Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly ...
Patel et al described two instances of holoprosencephaly. In one of these two cases, the m ... To the Editor.-In the August issue of the Journal (124:217-221, 1972) Patel et al described two instances of holoprosencephaly ... A dominant form of holoprosencephaly with incomplete penetrance and remarkably variable expressivity is known to occur. Grebe1 ... Holoprosencephaly Revisited. Am J Dis Child. 1974;127(4):597. doi:10.1001/archpedi.1974.02110230143029 ...
FEVER and HOLOPROSENCEPHALY related symptoms, diseases, and genetic alterations. Get the complete information with our medical ... Fever, and Holoprosencephaly. .site-footer{margin-bottom:80px}. If you liked this article maybe you will also find interesting ...
carsyn cerebral palsyholoprosencephaly Video 4 Carsyn Taking His "First Steps". Today was the very first day that Carsyn has ... carsyn cerebral palsygait trainerholoprosencephalymom of super hero 10 Feelings from a Mom of a Superhero. September 17, 2012. ... cerebral palsy dudley gait trainer holoprosencephaly instagram iphone mom of super hero sensory stander ... I wanted to start this blog to share more about our journey with Holoprosencephaly, which is Carsyns diagnosis, and with the ...
Nonsyndromic holoprosencephaly. MedlinePlus Genetics provides information about Nonsyndromic holoprosencephaly. More About This ... Nonsyndromic holoprosencephaly. MedlinePlus Genetics provides information about Nonsyndromic holoprosencephaly. More About This ...
... alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, and a middle interhemispheric fusion variant ( ... Holoprosencephaly is a structural malformation of the brain that results from complete or incomplete nonseparation of the ... prosencephalon (forebrain). Classification Holoprosencephaly is categorized into 4 subtypes: ... Holoprosencephaly is categorized into 4 subtypes: alobar holoprosencephaly, semilobar holoprosencephaly, lobar ...
Holoprosencephaly (HPE) is the most common developmental defect of the forebrainand midface in humans. In holoprosencephaly the ... Holoprosencephaly (HPE) is a common, severe malformation ofthe brain that involves separation of the central nervous system ... Holoprosencephaly (HPE) is a severe brain malformation whichresults from incomplete cleavage of the forebrain during early ... At least 12 differentloci have been associated with HPE and now several distinct human genes forholoprosencephaly have been ...
Holoprosencephaly Panel. Holoprosencephaly (HPE) is a complex human brain malformation resulting from the incomplete separation ... There are several different types of holoprosencephaly. In the alobar form, there is no separation between the right and left ... Any gene in the Holoprosencephaly Panel can also be ordered individually. Please contact us directly for cost and CPT code ...
Holoprosencephaly Type 8 (HPE8): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am. J. Med. Genet. C ... Semilobar holoprosencephaly The basic structure of the cerebral lobes are present but are fused most commonly anteriorly and at ... Links ] Geng, X. & Oliver, G. Pathogenesis of holoprosencephaly. J. Clin. Invest., 119(6):1403-13, 2009. [ Links ] Golinko, M. ...
CROGVHoloprosencephaly sequence*CROGVAgnathia-otocephaly complex ... CROGVHoloprosencephaly 9. *CROGVHoloprosencephaly caudal ... Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as ... Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. ... Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. ...
CROGVHoloprosencephaly sequence*CROGVAgnathia-otocephaly complex ... CROGVHoloprosencephaly 9. *CROGVHoloprosencephaly caudal ... Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as ... Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. ... Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. ...
N2 - Holoprosencephaly (HPE) is a developmental anomaly characterized by inadequate or absent midline division of the embryonic ... AB - Holoprosencephaly (HPE) is a developmental anomaly characterized by inadequate or absent midline division of the embryonic ... Holoprosencephaly (HPE) is a developmental anomaly characterized by inadequate or absent midline division of the embryonic ... abstract = "Holoprosencephaly (HPE) is a developmental anomaly characterized by inadequate or absent midline division of the ...
A one-day-old male infant with cleft lip and palate, microcephaly, hypotelorism, microphthalmia and absence of the nose is presented. The intermaxillar segment and nasal bone structure were not seen on radiological examination of the skull. Chromosome examination showed a 46, XY karyotype. On postmortem examination, the cerebrum was seen to be a single lobe. Olfactory nerves, corpus callosum and nasal formation, besides the septum were absent. The first and second ventricles were formed as a single ventricle. These findings were compatible with alobar holoprosencephaly. ...
Holoprosencephaly Holoprosencephaly derives from failure of separation of the cerebral hemispheres. In the most severe forms ...
Holoprosencephaly. 330. 48,100. 430. 52,217. 615. 22,643. 550. 34,333. 175. 21,945. 2,100. 35,703. ...
Electroencephalography in holoprosencephaly: Findings in children without epilepsy. Jin S. Hahn, Mauricio R. Delgado, Nancy J. ... Electroencephalography in holoprosencephaly: Findings in children without epilepsy. / Hahn, Jin S.; Delgado, Mauricio R.; Clegg ... Electroencephalography in holoprosencephaly: Findings in children without epilepsy. Clinical Neurophysiology. 2003 Oct;114(10): ... Electroencephalography in holoprosencephaly : Findings in children without epilepsy. In: Clinical Neurophysiology. 2003 ; Vol. ...
Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion. ... Dive into the research topics of Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 ...
Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017 ...
The sonic hedgehog (Shh) gene has been identified in defects that cause hydrocephalus secondary to holoprosencephaly. This gene ... This syndrome is characterized by an occipital encephalocele that is associated with holoprosencephaly, orofacial clefts, ...
holoprosencephaly DOID:4621. ICD10CM:Q04.2. MESH:D016142. NCI:C74988. OMIM:PS236100. ORDO:2162. UMLS_CUI:C0079541. ...
You get holoprosencephaly.. So one of the things that were working on now is trying to understand how the protein is ... sphere-holoprosencephaly-where the cerebral hemispheres are not divided and you have complete holoprosencephaly. ... Also, you get holoprosencephaly, where in the brain part behind the eye - the forebrain - instead of having two halves theres ... Holoprosencephaly is really a spectrum of malformations that can exist in very mild forms where, for example, only the ...
Alobar holoprosencephaly. AJNR Am J Neuroradiol 1993;14:1151-1156. FREE Full Text ...
  • In semilobar holoprosencephaly, the cerebral hemispheres are fused anteriorly, with posterior separation, while lobar holoprosencephaly is characterized by fusion of only the most ventral frontal neocortex. (medscape.com)
  • We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. (nih.gov)
  • In semilobar holoprosencephaly, the cerebral hemispheres separate posteriorly but not anteriorly. (medscape.com)
  • Semilobar holoprosencephaly The basic structure of the cerebral lobes are present but are fused most commonly anteriorly and at the thalami. (symptoma.com)
  • Semilobar holoprosencephaly is characterized by partial cleavage into hemispheres posteriorly but with a communicating unified ventricular cavity anteriorly. (msdmanuals.com)
  • [ 7 ] The term septopreoptic holoprosencephaly has been used to describe a mild subtype of lobar holoprosencephaly with nonseparation restricted to the septal or preoptic region. (medscape.com)
  • Lobar holoprosencephaly is characterized by almost complete separation of the cerebral hemispheres except at the frontal lobes. (medscape.com)
  • Lobar holoprosencephaly is characterized by absence of the septum pellucidum (the membrane that separates the front of the 2 lateral ventricles), agenesis of the corpus callosum, fusion of the anterior horns of the lateral ventricles, and possibly fusion of the cingulate gyri. (msdmanuals.com)
  • Mutations in the gene encoding the SHH protein, which is involved in the development of the central nervous system (CNS), can cause holoprosencephaly. (wikipedia.org)
  • Background Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. (bmj.com)
  • Mutations in various genes have been reported in nonsyndromic holoprosencephaly, including SHH, ZIC2, SIX3, and TGIF, and are inherited in an autosomal-dominant fashion. (medscape.com)
  • Wallis D, Muenke M. Mutations in holoprosencephaly. (blogspot.com)
  • Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. (nih.gov)
  • These findings were compatible with alobar holoprosencephaly. (ogu.edu.tr)
  • Alobar holoprosencephaly is the most severe and is usually fatal. (msdmanuals.com)
  • Inappropriate expression of any of these genes may result in mild to severe forms of holoprosencephaly. (wikipedia.org)
  • citation needed] Other candidate genes have been located, including the SHH (holoprosencephaly type 3 a.k.a. (wikipedia.org)
  • At least 12 different loci have been associated with HPE and now several distinct human genes for holoprosencephaly have been identified. (blogspot.com)
  • Here we present an overview of the presently known genes causing human holoprosencephaly. (blogspot.com)
  • Loss of function-variants in cohesin genes including RAD21 were found in individuals with holoprosencephaly of whom some demonstrated CdLS features as well (Kruszka et al. (springer.com)
  • Holoprosencephaly is a structural malformation of the brain that results from complete or incomplete nonseparation of the prosencephalon (forebrain). (medscape.com)
  • Holoprosencephaly (HPE) is a common, severe malformation of the brain that involves separation of the central nervous system into left and right halves. (blogspot.com)
  • Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. (blogspot.com)
  • Holoprosencephaly (HPE) is a complex human brain malformation resulting from the incomplete separation of the two cerebral hemispheres. (uchicago.edu)
  • Associations between maternal occupational PAH exposure and selected rare defects of the face (cataracts, microphthalmia, glaucoma, microtia, and choanal atresia) and central nervous system (holoprosencephaly, hydrocephaly, cerebellar hypoplasia, and Dandy-Walker malformation) were evaluated using data from the National Birth Defects Prevention Study, a population-based case-control study in the United States. (cdc.gov)
  • Syntelencephaly or middle interhemispheric variant of holoprosencephaly (MIHV) Mild phenotypic presentation which can present with flat nasal bridge, metopic prominence, shallow philtrum, and possible mental and locomotion delays. (wikipedia.org)
  • Most cases of holoprosencephaly are characterized by various midline craniofacial malformations. (medscape.com)
  • Holoprosencephaly (HPE) is a developmental anomaly characterized by inadequate or absent midline division of the embryonic forebrain and midline facial defects. (umn.edu)
  • It is best thought of as being part of the holoprosencephaly spectrum (see classification system for midline malformations ). (radiopaedia.org)
  • The most severe disorders have midline developmental anomalies and include holoprosencephaly, which is usually embryonic lethal, or septo-optic dysplasia. (sc.edu)
  • Microform of holoprosencephaly is a term assigned to the mildest type. (medscape.com)
  • Microform of holoprosencephaly is a term reserved for the relatives of probands who have craniofacial anomalies such as hypotelorism, sharply angular nose, thin nasal bridge, congenital nasal pyriform aperture stenosis, bifid uvula, and single central maxillary incisor but no cerebral abnormalities suggestive of holoprosencephaly on neuroimaging. (medscape.com)
  • Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S. A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. (blogspot.com)
  • Patients with this condition have craniofacial anomalies, including choanal stenosis, a flat or sharp nasal bridge, hypotelorism, or a single maxillary central incisor, but no cerebral abnormalities suggestive of holoprosencephaly on neuroimaging. (medscape.com)
  • Holoprosencephaly is estimated to occur in approximately 1 in every 250 conceptions and most cases are not compatible with life and result in fetal death in utero due to deformities to the skull and brain. (wikipedia.org)
  • Holoprosencephaly is typically diagnosed during fetal development when there are abnormalities found on fetal brain imaging, however it can also be diagnosed after birth. (wikipedia.org)
  • Holoprosencephaly is a congenital Induction disorder of the brain occurring at 3-6 weeks' gestation, with failed segmentation of the neural tube. (medscape.com)
  • In holoprosencephaly the cerebral hemispheres of the brain fail to separate into distinct left and right hemispheres. (blogspot.com)
  • Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. (nih.gov)
  • Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. (wikipedia.org)
  • Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. (blogspot.com)
  • Holoprosencephaly spectrum occurs when the embryonic prosencephalon (which becomes the forebrain) does not undergo complete segmentation and cleavage. (msdmanuals.com)
  • Although many children with holoprosencephaly have normal chromosomes, specific chromosomal abnormalities have been identified in some patients (trisomy of chromosome 13, also known as Patau syndrome). (wikipedia.org)
  • Holoprosencephaly is associated with chromosomal abnormalities leading to aneuploidy, such as trisomy 13, trisomy 18, and triploidy. (medscape.com)
  • A combination of genetic and environmental factors is thought to be responsible for the pathogenesis of holoprosencephaly. (medscape.com)
  • Links ] Geng, X. & Oliver, G. Pathogenesis of holoprosencephaly. (symptoma.com)
  • Dallaire et al 2 reported familial holoprosencephaly with facial dysmorphia through several generations. (jamanetwork.com)
  • Symptoms of holoprosencephaly range from mild (no facial/organ defects, anosmia, or only a single central incisor) to moderate to severe (cyclopia). (wikipedia.org)
  • When Do Symptoms of Agnathia-holoprosencephaly-situs inversus syndrome Begin? (nih.gov)
  • Describe the clinical characteristics of holoprosencephaly. (nih.gov)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
  • Holoprosencephaly: A clinical genomics perspective. (bvsalud.org)
  • Epilepsy is common, occurring in about 40% of patients with holoprosencephaly. (medscape.com)
  • Objective: To evaluate the electroencephalographic characteristics of patients with holoprosencephaly (HPE) without epilepsy. (elsevierpure.com)
  • [ 4 ] However, it must be emphasized that holoprosencephaly represents a continuous spectrum of malformations based on the severity of lack of cleavage. (medscape.com)
  • I wanted to start this blog to share more about our journey with Holoprosencephaly, which is Carsyn's diagnosis, and with the few Sensory Issues we are dealing with, with Dustyn. (oursonshines.com)
  • Holoprosencephaly derives from failure of separation of the cerebral hemispheres. (isuog.org)
  • Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. (nih.gov)
  • The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of holoprosencephaly and to inform genetic counseling of family members. (nih.gov)
  • Review the genetic causes of holoprosencephaly. (nih.gov)
  • Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband. (nih.gov)
  • Inform genetic counseling of family members of an individual with holoprosencephaly. (nih.gov)
  • The severity of holoprosencephaly is highly variable. (wikipedia.org)
  • A dominant form of holoprosencephaly with incomplete penetrance and remarkably variable expressivity is known to occur. (jamanetwork.com)
  • Accordingly, holoprosencephaly is possiby an extreme form of Yakovlevian torque. (wikipedia.org)
  • Holoprosencephaly : overview and atlas of cases, 1990. (loc.gov)
  • There are several different types of holoprosencephaly. (uchicago.edu)
  • Using a collection of over 44,000 human conceptuses from Kyoto University, in Japan, Abe et al reported that spontaneous abortions occurred in about 30% of women with a conceptus suffering from holoprosencephaly, approximately twice the rate found in pregnancies in general. (medscape.com)