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

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Disease Ontology 12 DOID:0110092 OMIM 56 263520 OMIM Phenotypic Series 56 PS208500 MeSH 43 D012779 ICD10 32 Q77.2 ICD10 via Orphanet 33 Q77.2

UMLS via Orphanet 72 C0024507 Orphanet 58 ORPHA93269 MedGen 41 C0024507 SNOMED-CT via HPO 68 111287006 13649004 162294008 205101001 205131007 205135003 21321009 229721007 23024003 249380003 249671009 249684000 249696007 253366007 253549006 253753005 253789002 258211005 25942009 276508000 29164008 29980002 30288003 314407005 32614006 34911001 38101003 405752007 43476002 445216006 48641006 62415009 62484002 63567004 70142008 80825009 82525005 87979003 more UMLS 71 C0024507

OMIM : ⁵⁶ 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 orofaciodigital syndrome iv and short rib-polydactyly syndrome. 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 Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include bone, kidney and liver, and related phenotypes are ventricular septal defect and brachycephaly

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

UniProtKB/Swiss-Prot : ⁷³ 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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