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Tibial aplasia-ectrodactyly syndrome

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Name:
Tibial aplasia-ectrodactyly syndrome
Description:
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
ORPHAcode:
3329
Synonyms:
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
XREF(s):
Orphanet
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
BHLHA9
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14