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A syndrome that is characterized by cleft hand and tibial aplasia with ectrodactyly.

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Aplasia of Tibia with Ectrodactyly; Tibial Aplasia with Split-Hand/Foot Deformity.

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In the general population, approximately 1:100,000 is affected. Despite the fact that consanguinity is common in the parents of affected children, inheritance is believed to be most often autosomal dominant with markedly reduced penetrance.

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The syndrome consists of bilateral aplasia of the tibiae and split-hand/foot deformities (also called lobster-claw deformity). Other anomalies may include hypoplasia or aplasia of the ulnae, distal hypoplasia or bifurcation of the femora, aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly, and cup-shaped ears.

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Evaluate the severity of the disease to prepare for intraoperative positioning. Venous access on hands and feet may be difficult.

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Ectrodactyly: Ectrodactyly describes a situation where at least one entire digit (both metacarpal/metatarsal and phalanges) is missing. It is a nonspecific term applied to a variety of malformations.

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Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome: Autosomal dominant inherited syndrome with facial (mild malar hypoplasia, maxillary hypoplasia, cleft lip and palate, choanal atresia), ocular and urogenital anomalies and occasionally mental retardation, and central diabetes insipidus.

Majewski F, Kuster W, Ter Haar B, et al: Aplasia of tibia with split hand/ foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum Genet 70:136, 1985.  [PubMed: 4007857]
Shenoy R, Kamath N: Bilateral congenital split hand with tibial aplasia. Ind J Pediatr 71:948, 2004.  [PubMed: 15531852]
Witters I, Devriendt K, Moerman P, et al: Bilateral tibial agenesis with ectrodactyly: Further evidence for autosomal recessive inheritance. Am J Med Genet 104:209, 2001.  [PubMed: 11754046]

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