1. Mendelian
  2. Rare Diseases
  3. SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

Split-hand/foot Malformation 1; Shfm1

Table of contents:

Description

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). Genetic Heterogeneity of Split-Hand/Foot MalformationAdditional SHFM loci include SHFM2 (OMIM ) on chromosome Xq26; SHFM3 (OMIM ), caused by duplication of chromosome 10q24; SHFM4 (OMIM ), caused by mutation in the TP63 gene (OMIM ) on chromosome 3q27; SHFM5 (OMIM ) on chromosome 2q31; and SHFM6 (OMIM ), caused by mutation in the WNT10B gene (OMIM ) on chromosome 12q13.Also see SHFM1D (OMIM ) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Split-hand/foot Malformation 1; Shfm1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Split-hand/foot Malformation 1; Shfm1 Is also known as shfd1, split-hand deformity, shsf1, split-hand/foot deformity 1, split-hand/foot malformation 1 with or without deafness, ecd, ectrodactyly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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