Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (SRTD6)

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OMIM 57 263520 Disease Ontology 12 DOID:0110092 ICD10 33 Q77.2 Q69.9 Orphanet 59 ORPHA93269 UMLS via Orphanet 74 C0024507

ICD10 via Orphanet 34 Q77.2 MedGen 42 C0024507 MeSH 44 D012779 SNOMED-CT via HPO 69 258211005 34911001 21321009 82525005 249380003 32614006 63567004 87979003 13649004 38101003 314407005 162294008 229721007 29164008 62415009 205101001 249696007 249671009 249684000 43476002 205131007 205135003 445216006 23024003 62484002 253549006 30288003 253366007 405752007 70142008 276508000 80825009 253789002 29980002 48641006 111287006 253753005 25942009 127020005 more UMLS 73 C0024507

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). (263520)

MalaCards based summary : Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include kidney, bone and eye, and related phenotypes are delayed speech and language development and pectus carinatum

Disease Ontology : ¹² An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33.

UniProtKB/Swiss-Prot : ⁷⁵ Short-rib thoracic dysplasia 6 with or without 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:

263520

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