Brachydactyly-long thumb syndrome

Orpha code: 2946OMIM code: 112430

Definition

A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.

Disease data
Classification

Malformation syndrome

Synonyms
Brachydactyly, long thumb type
Brachydaktylia - długi kciuk, typu długiego kciuka
ORPHA code
2946
OMIM code
112430
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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