Split-hand/split-foot malformation

Split-hand/split-foot malformation
A genetic malformation syndrome of the limbs with syndactyly, median clefts of the hands and feet, and aplasia (failure of development) and/or hypoplasia (underdevelopment) of the phalanges (the digits), the metacarpals (the bones leading up to the fingers), and the metatarsals (the bones leading up to the toes). The split-hand/split-foot malformation (SHFM) involves ectrodactyly (the absence of all or part of a finger or toes) It has also been called the lobster-claw deformity. SHFM is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance. The gene for SHFM is on chromosome 7 in the region of bands q21.2-q21.3. SHFM has been found to be due to a mutation in the p63 gene required for the development and maintenance of what is called the apical ectodermal ridge, a critical signaling center in the developing limbs. This ridge is crucial for the development of the thumb-pinky axis, proper differentiation of cells in the developing limb, and linear growth of the limb. Mutations in the p63 protein are also responsible for the EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome. The location of the mutation in the p63 protein determines whether it leads to SHFM or EEC.

Medical dictionary. 2011.

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  • Cleft hand — Cleft hand, also known as lobster claw hand or split hand,[1] is a rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest.[2] The central ray of the hand is… …   Wikipedia

  • SHSF — split hand split foot [malformation] …   Medical dictionary

  • SHSF — • split hand split foot [malformation] …   Dictionary of medical acronyms & abbreviations

  • SHFM1 — Split hand/foot malformation (ectrodactyly) type 1, also known as SHFM1, is a human gene.cite web | title = Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • FBXW4 — F box and WD repeat domain containing 4, also known as FBXW4, is a human gene.cite web | title = Entrez Gene: FBXW4 F box and WD repeat domain containing 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

  • Ectrodactyly — Ectrodactyly, sometimes referred to as the “Lobster Claw Syndrome”[1] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM).[2] The hands and feet of… …   Wikipedia

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  • Oligodactyly — as a result of ectrodactyly on the feet of a one year old child DiseasesDB 30700 Oligodactyly (from Greek prefix oligo , having few, having little + δάκτυλο …   Wikipedia

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