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GTR Home > Conditions/Phenotypes > Split hand-foot malformation 1 with sensorineural hearing loss

Split hand-foot malformation 1 with sensorineural hearing loss

Synonyms
DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET; SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; Split-hand/foot malformation 1 with sensorineural hearing loss
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate to severe hearing loss. There is nearly complete palmar dorsalization, with circumferential fingernails (Shamseldin et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600). [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SHFM1, SHFM1D, DLX5
    Summary: distal-less homeobox 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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