SRTD12
MCID: SHR098
MIFTS: 50
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Short-Rib Thoracic Dysplasia 12 (SRTD12)
Categories:
Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 12:
Name: Short-Rib Thoracic Dysplasia 12
57
Characteristics:Inheritance:
Short-Rib Thoracic Dysplasia 12:
Autosomal recessive 57
Short Rib-Polydactyly Syndrome, Beemer-Langer Type:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Respiratory diseases Bone diseases
ICD10:
32
Orphanet: 58
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OMIM®: 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene (611177); see SRTD2, 611263. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (269860) (Updated 08-Dec-2022) MalaCards based summary: Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to short rib-polydactyly syndrome and cranioectodermal dysplasia 1, and has symptoms including edema An important gene associated with Short-Rib Thoracic Dysplasia 12 is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Signal Transduction and Signaling by Hedgehog. Affiliated tissues include bone, pancreas and brain, and related phenotypes are macrocephaly and hydrocephalus GARD: 19 A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others. Orphanet: 58 A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others. Disease Ontology: 11 A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. Wikipedia: 75 Short rib-polydactyly syndrome is a family of four closely related... more... |
Human phenotypes related to Short-Rib Thoracic Dysplasia 12:30 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:269860 (Updated 08-Dec-2022)UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:edema MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 12:45
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Cochrane evidence based reviews: short rib-polydactyly syndrome, beemer type |
Organs/tissues related to Short-Rib Thoracic Dysplasia 12:
MalaCards :
Bone,
Pancreas,
Brain,
Liver,
Eye,
Heart,
Tongue
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Articles related to Short-Rib Thoracic Dysplasia 12:(show all 25)
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ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 12:5 (show all 11)
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Search
GEO
for disease gene expression data for Short-Rib Thoracic Dysplasia 12.
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Pathways related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:
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Cellular components related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:(show all 17)
Biological processes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:
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