Short-Rib Thoracic Dysplasia 15 with Polydactyly

External Ids:

OMIM 57 617088 MedGen 42 C4310724 CN238092

MeSH 44 D012779 SNOMED-CT via HPO 69 258211005 95515009 246800008 249696007 205131007 86203003 16294009 80515008 237836003 15459006 more

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). SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). (617088)

MalaCards based summary : Short-Rib Thoracic Dysplasia 15 with Polydactyly, also known as srtd15, is related to sitosterolemia. An important gene associated with Short-Rib Thoracic Dysplasia 15 with Polydactyly is DYNC2LI1 (Dynein Cytoplasmic 2 Light Intermediate Chain 1). Affiliated tissues include bone, kidney and liver, and related phenotypes are epicanthus and low-set ears

UniProtKB/Swiss-Prot : ⁷⁵ Short-rib thoracic dysplasia 15 with polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal 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 the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Clinical features from OMIM:

617088

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 15 with Polydactyly.