Details of Disease

General Information of Disease (ID: DISHHBGD)

• Disease Name: Short-rib thoracic dysplasia 20 with polydactyly
• Synonyms: SRTD20; short-rib thoracic dysplasia 20 with polydactyly
• Definition: 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 {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).
• Disease Hierarchy:
  DISLC357: Jeune syndrome
  DISHHBGD: Short-rib thoracic dysplasia 20 with polydactyly
• Disease Identifiers:
  MONDO ID: MONDO_0044328
  UMLS CUI: C4693616
  OMIM ID: 617925
  MedGen ID: 1634931

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INTU	OTXB13E6	Limited	Unknown	[1]

References

• [1] The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9.