A syndrome that is characterized by cleft hand and
tibial aplasia with ectrodactyly.
Aplasia of Tibia with Ectrodactyly; Tibial Aplasia with
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.
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.
Evaluate the severity of the disease to
prepare for intraoperative positioning. Venous access on hands and feet may
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.
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
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
Shenoy R, Kamath N: Bilateral congenital split hand with tibial aplasia.
Ind J Pediatr
Witters I, Devriendt K, Moerman P, et al: Bilateral tibial agenesis with
ectrodactyly: Further evidence for autosomal recessive inheritance. Am J Med Genet