Macrostomia
Glypicans
Gigantism
MedlinePlus
Heparan Sulfate Proteoglycans
Macroglossia
Ultrasound prenatal diagnosis of a lateral facial cleft (Tessier number 7). (1/3)
Lateral facial clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral facial cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation. (+info)Bilateral transverse facial cleft as an isolated deformity: case report. (2/3)
Transverse facial clefts are rare deformities, these mostly occur as part of syndromes such as facial dysostosis and branchial arch syndrome. This is a report of a case of isolated, asyndromic bilateral facial cleft seen at a semi-urban specialist hospital. Congenital facial defects remain sources of mental and social stress to the families. Infanticide, perhaps a thing of the past in the developed world may still be practiced in cases of congenital deformities in the developing countries, hence the need for early involvement of social workers and clinical psychologist in management. (+info)Ablepharon macrostomia syndrome. (3/3)
The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss. (+info)Macrostomia is a relatively rare medical condition characterized by an abnormally large or wide mouth opening. This condition can be congenital, meaning it is present at birth, or acquired later in life due to various factors such as trauma, nerve damage, or certain muscular disorders. In some cases, macrostomia may simply be a cosmetic concern, but in other instances, it can lead to complications such as speech difficulties, problems with eating and drinking, or an increased risk of oral infections. Treatment for macrostomia typically involves surgical intervention to reduce the size of the mouth opening and improve function and appearance.
Glypicans are a type of heparan sulfate proteoglycan (HSPG) that are attached to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. They are involved in various biological processes, such as cell growth, differentiation, and migration, by regulating the distribution and activity of various signaling molecules, including morphogens, growth factors, and Wnt proteins. There are six distinct glypican genes (GPC1-6) identified in humans, each encoding a unique protein isoform with a conserved core structure but varying in their specific functions and expression patterns. Abnormal glypican expression or function has been implicated in several diseases, including cancer, developmental disorders, and neurodegenerative diseases.
Gigantism is a rare medical condition characterized by excessive growth and height significantly above average. This occurs due to an overproduction of growth hormone (GH), also known as somatotropin, during the growth phase in childhood. The pituitary gland, a small gland located at the base of the brain, is responsible for producing this hormone.
In gigantism, the pituitary gland releases too much GH, leading to abnormal bone and tissue growth. This condition is different from acromegaly, which is characterized by excessive GH production in adulthood after the growth phase has ended. In both cases, the excess GH can lead to various health complications, including cardiovascular disease, diabetes, hypertension, and joint problems.
Gigantism is typically caused by a benign tumor called a pituitary adenoma that presses against and stimulates the production of GH from the anterior pituitary gland. Treatment usually involves surgical removal of the tumor or medication to control GH levels, depending on the severity and progression of the condition. Early diagnosis and treatment are crucial for managing the symptoms and preventing long-term health complications associated with gigantism.
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Heparan sulfate proteoglycans (HSPGs) are complex molecules composed of a core protein to which one or more heparan sulfate (HS) glycosaminoglycan chains are covalently attached. They are widely distributed in animal tissues and play crucial roles in various biological processes, including cell-cell communication, growth factor signaling, viral infection, and cancer metastasis.
The HS chains are long, linear polysaccharides composed of repeating disaccharide units of glucosamine and uronic acid (either glucuronic or iduronic acid). These chains contain sulfate groups at various positions, which give them a negative charge and allow them to interact with numerous proteins, growth factors, and enzymes.
HSPGs can be found on the cell surface (syndecans and glypicans) or in the extracellular matrix (perlecans and agrin). They act as co-receptors for many signaling molecules, such as fibroblast growth factors (FGFs), wingless-type MMTV integration site family members (WNTs), and hedgehog proteins. By modulating the activity of these signaling pathways, HSPGs help regulate various cellular functions, including proliferation, differentiation, migration, and adhesion.
Dysregulation of HSPGs has been implicated in several diseases, such as cancer, fibrosis, and viral infections (e.g., HIV and herpes simplex virus). Therefore, understanding the structure and function of HSPGs is essential for developing new therapeutic strategies to target these diseases.
Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
'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.
Macrostomia
Ablepharon macrostomia syndrome
Trigonocephaly-bifid nose-acral anomalies syndrome
Fraser syndrome
Twist-related protein 2
Barber-Say syndrome
PTCH2
Alazami syndrome
Anotia
Treacher Collins syndrome
AMS
List of MeSH codes (C07)
List of ICD-9 codes 740-759: congenital anomalies
List of syndromes
Franceschetti-Klein syndrome
List of MeSH codes (C16)
SOFT syndrome
List of diseases (H)
List of diseases (A)
Tranebjaerg-Svejgaard syndrome
Macrostomia - Wikipedia
Ablepharon-macrostomia syndrome | The PMFA Journal
Surgical treatment of Macrostomia
Simpson-Golabi-Behmel syndrome: MedlinePlus Genetics
Medknow Publications: Publisher of peer reviewed scholarly journals (Open access / subscription based) - Author Institution...
Craniofacial Syndromes: Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Carpenter Syndromes, Pierre Robin Sequence, Hemifacial...
urofacial syndrome - Ontology Browser - Rat Genome Database
Craniofacial Syndromes: Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Carpenter Syndromes, Pierre Robin Sequence, Hemifacial...
hearing loss | Hereditary Ocular Diseases
Goldenhar syndrome | Pediatric Oncall Journal
Baby’s Pregnancy Calendar
Search Results for Endang Sjamsudin: International Journal of Science and Research (IJSR)
DeCS 2020 - June 23, 2020 version
DeCS 2018 - July 31, 2018 version
DeCS 2018 - July 31, 2018 version
DeCS 2017 - July 04, 2017 version
DeCS 2018 - July 31, 2018 version
Cleft
ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities - wikidoc
Connexion
Isl1 Mouse Gene Details | ISL1 transcription factor, LIM/homeodomain | International Mouse Phenotyping Consortium
Bio2Vec
"Absent eyebrow"[Clinical Features] OR 98133[uid] - MedGen -...
Toe syndactyly (Concept Id: C0265660) - MedGen - NCBI
Bio2Vec
Anotia - Pictures , Symptoms , Causes ,Prevention And Diagnosis
Intellectual deficit, autosomal dominant | Amedes Genetics
ReP USP - Resultado da busca
Ablepharon4
- The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. (thepmfajournal.com)
- Long-term results of the surgical management of the upper eyelids in 'Ablepharon'- Macrostomia syndrome. (thepmfajournal.com)
- McCarthy GT, West CM (1977) Ablepharon macrostomia syndrome. (altmeyers.org)
- Stevens CA, Sargent LA (2002) Ablepharon-macrostomia syndrome. (altmeyers.org)
Congenital5
- Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. (thepmfajournal.com)
- Macrostomia is a rare congenital anomaly, defined as extending from the mouth in the region of the oral commissure. (bvsalud.org)
- Conclusion: Macrostomia is a congenital anomaly that requires surgical treatment. (bvsalud.org)
- It is associated with abnormalities of first and second brachial arches and is characterized by unilateral or bilateral microtia/anotia/atresia, preauricular tags, facial tags, conductive hearing loss, epidermal lipodermoids, microphthalmia, mandibular hypoplasia, maxillary hypoplasia, macrostomia, cervical vertebral anomalies and congenital heart disease (1). (pediatriconcall.com)
- Yesterday, Amanda operated on a boy with hemifacial microsomia, a congenital condition which left him with a misshapen, shrunken and misplaced ear as well as a type of cleft lip called macrostomia, where the left corner of the lip doesn't end at it's usual location and instead extends out on to the cheek towards the ear, making it difficult for the child to eat. (blogs.com)
Facial cleft1
- Classifications are a complete lateral facial cleft, simple macrostomia, macrostomia with diastasis of the facial musculature, and isolated facial musculature diastasis. (wikipedia.org)
Cleft2
- The cleft associated with macrostomia is associated with improper or failed fusion of the mandibular and maxillary processes during embryonic development. (wikipedia.org)
- Surgical treatments included: correction of macrostomia, distraction osteogenesis, staged ear reconstruction, orbit-maxillary-mandibular surgery, soft tissue reconstruction with dermis fat graft, vascularized free tissue transfer, cleft lip-cleft lip nose repair and palatoplasty. (jmatonline.com)
Unusually1
- Macrostomia refers to a mouth that is unusually wide. (wikipedia.org)
Deformities1
- This version of macrostomia is less severe because it does not affect the facial muscles and is not associated with any soft tissue or bone deformities. (wikipedia.org)
Severe1
- Clefts in this variant are slightly more severe than the ones seen in simple macrostomia. (wikipedia.org)
Mouth1
- Macrostomia' widening or clefting of the corner of the mouth. (jamespbradleymd.com)
Nose1
- A rare genetic intellectual disability malformation syndrome characterized by global developmental delay intellectual disability delayed speech and language development epilepsy autistic behavior and moderate facial dysmorphism (including elongated face narrow forehead arched eyebrows horizontal palpebral fissures hypertelorism epicanthus midface flattening short nose long and featureless philtrum thin upper lip macrostomia and prominent chin). (globalgenes.org)
Case Report1
- Case Report: The objective of this study is to present a clinical case of a 3-year-old patient with bilateral macrostomia. (bvsalud.org)
Face1
- Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals. (wikipedia.org)
Links1
- PTCH2 (Val147Ile) is a loss of function mutation which results in a lack of control of cell growth during development and links it to macrostomia. (wikipedia.org)
Problems1
- The main problems associated with macrostomia are cosmetic changes and difficulties in swallowing and speech. (bvsalud.org)
Ablepharon macrostomia7
- We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. (nih.gov)
- Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. (nih.gov)
- Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. (nih.gov)
- Ablepharon-macrostomia syndrome: first report of familial occurrence. (nih.gov)
- The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. (thepmfajournal.com)
- Long-term results of the surgical management of the upper eyelids in 'Ablepharon'- Macrostomia syndrome. (thepmfajournal.com)
- Despite being visually impaired due to a rare syndrome called Ablepharon-Macrostomia, she is set to graduate from Hackensack Meridian School of Medicine. (einsteinmed.edu)
Hemifacial1
- Jaw Joint Surgery and Scar Revision for Facial Asymmetry Correction A 7-year-old girl from Hubbali, Karnataka, India had grade III hemifacial microsomia and macrostomia when she was born, which made it hard for her left lower jaw to grow. (smbalaji.com)
Bilateral1
- Case Report: The objective of this study is to present a clinical case of a 3-year-old patient with bilateral macrostomia. (bvsalud.org)
Autosomal1
- Macrostomia can be partially classified as a heritable autosomal dominant disease. (wikipedia.org)
Facial1
- This version of macrostomia is less severe because it does not affect the facial muscles and is not associated with any soft tissue or bone deformities. (wikipedia.org)
Present1
- Macrostomia is often present. (pediatriconcall.com)
Condition1
- The condition is known as Macrostomia. (worldtruth.tv)