Split-Hand/foot Malformation 1 (ECD)

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OMIM 57 183600 Disease Ontology 12 DOID:0090021 ICD10 33 Q71.6

MedGen 42 C2931019 SNOMED-CT via HPO 69 263681008 63567004 87979003 103276001 15188001 343087000 95828007 253255002 60700002 373413006 299034005 71358006 205308004 228156007 247578003 91138005 205358006 249820005 205145001 17268007 13624003 81208006 more UMLS 73 C2931019 C0265554 C2699510

NIH Rare Diseases : ⁵³ Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

MalaCards based summary : Split-Hand/foot Malformation 1, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and isolated split hand-split foot malformation. An important gene associated with Split-Hand/foot Malformation 1 is SEM1 (SEM1, 26S Proteasome Complex Subunit). Affiliated tissues include bone, heart and brain, and related phenotypes are clinodactyly and intellectual disability

Disease Ontology : ¹² A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

OMIM : ⁵⁷ Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). (183600)

Wikipedia : ⁷⁶ Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger)... more...

Clinical features from OMIM:

183600

Search NIH Clinical Center for Split-Hand/foot Malformation 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation 1.