Rubinstein-Taybi syndrome

Orpha code: 783OMIM code: 613684

Definition

A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.

Disease data
Classification

Malformation syndrome

Synonyms
Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome
ORPHA code
783
OMIM code
613684
ICD10 code
Q87.2
ICD11 code
LD2F.1Y

No additional description.

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