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Tibial Aplasia-Ectrodactyly Syndrome (MONDO:0018050)

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

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0018050

Internal:18215

Synonyms

SHFLD syndrome

SHFM associated with aplasia of long bones

TH-SHFM

aplasia of tibia with split-hand/split-foot deformity

split hand/foot malformation with long bone deficiency

split-hand/foot malformation associated with aplasia of long bones

tibial hemimelia with split hand/foot malformation

tibial hemimelia-ectrodactyly syndrome

SHFLD

aplasia of tibia with ectrodactyly

ectrodactyly with aplasia of long bones

split-hand/foot malformation with long bone deficiency

tibial aplasia with split-hand/split-foot deformity

Mapped terms

GARD:0001369

MEDGEN:1639878

Orphanet:3329

UMLS:C4551989

Child terms

MONDO:0007332

MONDO:0012537

MONDO:0012944

Results

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