Short-Rib Thoracic Dysplasia 12

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OMIM 57 269860 Disease Ontology 12 DOID:9249 MeSH 44 C537599 SNOMED-CT 68 254052001 Orphanet 59 ORPHA93268

ICD10 via Orphanet 34 Q77.2 UMLS via Orphanet 74 C0432198 MedGen 42 C0432198 SNOMED-CT via HPO 69 258211005 396232000 21321009 32659003 253752000 230745008 194021007 22006008 253251006 95515009 253255002 95427009 21995002 58748004 249696007 249671009 20741006 267038008 423666004 79654002 48251003 30915001 199612005 22033007 18735004 389026000 86203003 253549006 30288003 83330001 204317008 16294009 80825009 409623005 80515008 89369001 268290005 253789002 29980002 48641006 299331007 276506001 423230008 249765007 249670005 253753005 46621007 more UMLS 73 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). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (269860)

MalaCards based summary : Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to polydactyly and short-rib thoracic dysplasia 10 with or without polydactyly, and has symptoms including edema An important gene associated with Short-Rib Thoracic Dysplasia 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, brain and kidney, and related phenotypes are inguinal hernia and ambiguous genitalia

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93268Disease definitionShort rib-polydactylysyndrome (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.

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.

Clinical features from OMIM:

269860

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with Ras	GR00018-A-0	8.92	EVC2 IFT80 NEK1 TTC21B

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