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Tibial aplasia-ectrodactyly syndrome

rare

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

Identifiers
MONDO:0018050 Orphanet:3329
Part of
Congenital limb malformationDysostosisHereditary disease
Also known as
aplasia of tibia with ectrodactyly · aplasia of tibia with split-hand/split-foot deformity · ectrodactyly with aplasia of long bones · SHFLD · SHFLD syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Chromosome 17P13.3, telomeric, duplication syndrome
Split-hand/foot malformation with long bone deficiency 1
Split-hand/foot malformation with long bone deficiency 2

Rare disease

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