- 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.
Look at other dictionaries:
Cleft hand — Cleft hand, also known as lobster claw hand or split hand, 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. 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” 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). The hands and feet of… … Wikipedia
List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa Sc Se Sh Si Sj Sn So Sp Sq Ss St Su Sw Sy aSaa Sak Sal Sar Sat Say aa Sal* Saal Bulas syndrome * Saal Greenstein syndrome * Sabinas brittle hair syndrome * Saccharopinuria * Sackey… … Wikipedia
Ectrodactyly-ectodermal dysplasia-cleft syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 34402 ICD10 = ICD9 = ICDO = OMIM = 129900 OMIM mult = OMIM2|604292 | MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Ectrodactyly ectodermal dysplasia cleft syndrome, or EEC, is a… … Wikipedia
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
DLX5 — Distal less homeobox 5 PDB rendering based on 2djn … Wikipedia