Ontology highlight
ABSTRACT:
SUBMITTER: Levy J
PROVIDER: S-EPMC3557612 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Lévy Jonathan J Jouannic Jean-Marie JM Saada Julien J Dhombres Ferdinand F Siffroi Jean-Pierre JP Portnoï Marie-France MF
Case reports in genetics 20130113
Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise a ...[more]