Abstract
Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic; however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.
Highlights
Split-hand/foot malformation (SHFM) is a primary structural rare abnormality of the limbs
We report a case of severe Split-Hand/Split-Foot Malformation (SHFM) involving all four limbs
Termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod
Summary
Split-hand/foot malformation (SHFM) is a primary structural rare abnormality of the limbs. SHFM or Ectrodactyly is characterized by the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet It is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. It has been called lobster-claw syndrome because the hands of those affected can appear claw-like This rare syndrome has many forms (Table 1); one of the most common of these forms called Type I is associated with a specific region of human chromosome 7 that contains two homeobox genes, DLX5 and DLX6. These genes are similar to a gene in insects called distal-less that controls limb development. We report a case of severe SHFM involving all four limbs
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