Cleft hand absent tibia

Other Names: Aplasia of tibia with ectrodactyly; Tibial aplasia with split-hand/split-foot deformity; Ectrodactyly with aplasia of long bones; Split-hand/foot malformation with long bone deficiency; SHFLD

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

Epidemiology

The incidence is estimated to be approximately 1 in 1,000,000 live births.

Cause

Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.

Inheritance

The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.

Signs and symptoms

The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.

NIH genetic and rare disease info

• NIH info on Cleft hand absent tibia

Cleft hand absent tibia is a rare disease.

Cleft hand absent tibia Resources
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