Short-Rib Thoracic Dysplasia 12 (SRTD12)

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Disease Ontology 12 DOID:9249 OMIM® 57 269860 MeSH 44 C537599 SNOMED-CT 67 254052001 ICD10 via Orphanet 33 Q77.2

UMLS via Orphanet 72 C0432198 Orphanet 58 ORPHA93268 MedGen 41 C0432198 SNOMED-CT via HPO 68 16294009 18735004 194021007 199612005 204317008 20741006 21321009 21995002 22006008 22033007 230745008 249670005 249671009 249696007 249765007 253251006 253255002 253549006 253752000 253753005 253789002 258211005 267038008 268290005 276506001 299331007 29980002 30288003 30915001 32659003 389026000 396232000 409623005 423230008 423666004 43476002 46621007 48251003 48641006 58748004 79654002 80515008 80825009 83330001 86203003 89369001 95427009 95515009 more UMLS 71 C0432198

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 05-Mar-2021)

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 EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, pancreas and tongue, and related phenotypes are macrocephaly and hydrocephalus

Disease Ontology : ¹² A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93268DefinitionShort rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.Visit the Orphanet disease page for more resources.

Wikipedia : ⁷⁴ Short rib-polydactyly syndrome is a family of four closely related... more...

Clinical features from OMIM®:

269860 (Updated 05-Mar-2021)

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