1. Mendelian
  2. Rare Diseases
  3. SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

Split-hand/foot Malformation 3; Shfm3

Table of contents:

Description

Split-hand/split-foot malformation 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 SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Split-hand/foot Malformation 3; Shfm3

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Micrognathia
  • Cleft palate
  • High palate
  • Myopia
  • Renal insufficiency
  • Syndactyly
  • Polydactyly

And another 22 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 3; Shfm3 Is also known as shsf3, chromosome 10q24 duplication syndrome, limb deficiencies, distal, with micrognathia.

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 Genetic Syndrome Finder

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