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[edit | edit source]
The incidence is estimated to be approximately 1 in 1,000,000 live births.
Cause[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit source]
Cleft hand absent tibia is a rare disease.
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