Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity.
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Epidemiology
The estimated incidence is at ~ 1 in 90,000-150,000 births.
Pathology
It results from a longitudinal deficiency in central digits where the mechanism is thought to be a failure of the median apical ectodermal ridge in the developing limb bud.
Genetics
The most common mode of transmission is as an autosomal dominant trait, although autosomal recessive and X-linked modes of transmission also have been described.
Associations
-
syndromic
-
EEC syndrome (ectrodactyly-ectrodermal dysplasia-clefting syndrome)
- ectrodactyly
- ectodermal dysplasia
- cleft lip or palate
- Karsch-Neugebauer syndrome
- Roberts syndrome
-
EEC syndrome (ectrodactyly-ectrodermal dysplasia-clefting syndrome)
-
non syndromic
- syndactyly, aplasia, or hypoplasia of the residual phalanges/metacarpals
- sensorineural hearing loss
Radiographic features
Plain film
- there is a deficiency or absence of one or more central digits of the hand +/- feet
- characterized by a deep V- or U-shaped central bony defect
Differential diagnosis
General differential considerations include
- amniotic band sequence: usually unilateral and may be not symmetrical
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