Short Rib-Polydactyly Syndrome
Cytoplasmic Dyneins
Polydactyly
Ribs
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. (1/20)
Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes. (+info)Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report. (2/20)
Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed. (+info)A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. (3/20)
A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases. (+info)Short rib-polydactyly syndrome: a case report. (4/20)
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer). (+info)Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. (5/20)
Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies. (+info)Ellis-van Creveld syndrome. (6/20)
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. (+info)Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (7/20)
(+info)DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (8/20)
(+info)Short Rib-Polydactyly Syndrome (SRPS) is a group of rare, genetic bone disorders characterized by the shortening of ribs and limbs, and often accompanied by extra fingers or toes (polydactyly). The severity of this condition can vary significantly among individuals, even within the same family. SRPS is typically associated with severe respiratory distress due to the narrowing of the chest cavity, which restricts lung growth and development.
There are several types of Short Rib-Polydactyly Syndrome, including:
1. Type I (Saldino-Noonan syndrome): This is the most severe form, with short ribs, a narrow chest, underdeveloped lungs, and a bell-shaped abdomen. Affected individuals may also have cleft lip or palate, heart defects, and polydactyly.
2. Type II (Majewski syndrome): This form features short ribs, a narrow chest, underdeveloped lungs, and polydactyly. Some individuals with this type may also have kidney abnormalities, distinctive facial features, and intellectual disability.
3. Type III (Verma-Naumoff syndrome): This is a milder form of SRPS, characterized by short ribs, a narrow chest, underdeveloped lungs, and polydactyly. Affected individuals may not experience severe respiratory distress or other life-threatening complications.
4. Type IV (Beemer-Langer syndrome): This type is similar to Type III but has additional features such as distinctive facial features, spinal abnormalities, and hernias.
Short Rib-Polydactyly Syndrome is caused by mutations in various genes involved in bone development, including DVL1, DVL2, DVL3, IFT80, WDR19, WDR35, and WDR60. These genetic changes can be inherited from a parent or occur spontaneously during embryonic development.
Due to the severity of this condition, individuals with SRPS often require intensive medical support and management, including respiratory assistance, feeding tubes, and surgeries to correct skeletal abnormalities. The prognosis for individuals with SRPS varies depending on the type and severity of their symptoms.
Cytoplasmic dyneins are a type of motor protein found in the cytoplasm of cells. They are responsible for transporting various cellular cargoes, such as vesicles, organelles, and mRNA, along microtubules toward the minus-end of the microtubule, which is typically located near the cell center or nucleus.
Cytoplasmic dyneins are large protein complexes composed of multiple subunits, including heavy chains, intermediate chains, light intermediate chains, and light chains. The heavy chains contain the motor domain that binds to microtubules and hydrolyzes ATP to generate force for movement. Different isoforms of cytoplasmic dyneins exist, which can transport different cargoes and have distinct functions in cells.
Dysfunction of cytoplasmic dyneins has been implicated in various human diseases, including neurodegenerative disorders such as motor neuron disease and Alzheimer's disease, as well as cancer and developmental abnormalities.
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.
In medical terms, ribs are the long, curved bones that make up the ribcage in the human body. They articulate with the thoracic vertebrae posteriorly and connect to the sternum anteriorly via costal cartilages. There are 12 pairs of ribs in total, and they play a crucial role in protecting the lungs and heart, allowing room for expansion and contraction during breathing. Ribs also provide attachment points for various muscles involved in respiration and posture.
Ellis-van Creveld syndrome is a rare genetic disorder that affects the development of bones and other organs. It is characterized by short limbs, narrow chest, extra fingers or toes (polydactyly), heart defects, and abnormalities of the teeth and nails. The condition is caused by mutations in the EVC or EVC2 gene and is inherited in an autosomal recessive manner. It is also known as chondroectodermal dysplasia.