Ectrodactyly, also called split hand or cleft hand, is a congenital limb malformation in which one or more central digits of the hand or foot are partly or completely missing, leaving a distinctive V-shaped cleft and a claw-like appearance most often affecting the thumb and the ring or little finger. It can appear on one side of the body or both, and it may occur in isolation or as part of a broader syndrome. Estimates of how often it occurs vary widely, from about one in ninety thousand to one in ten thousand births, depending on how cases are classified. The malformation is linked to several genetic loci grouped under split hand and foot malformation, including regions on chromosomes 7, 10, 3, 2 and the X chromosome, reflecting more than one underlying genetic cause for what presents as a single recognizable pattern.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wikidata: Ectrodactyly
2. Ectrodactyly (Wikipedia)
Article text
The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely.
History section
The first modern reference to what might be considered a cleft hand was by Ambroise Paré in 1575.
Lead
Ectrodactyly, split hand, or cleft hand (from Ancient Greek ἔκτρωμα (éktroma) 'miscarriage' and δάκτυλος (dáktulos) 'finger') 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).
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