Pfeiffer syndrome

Orpha code: 710OMIM code: 101600

Definition

An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.

Disease data
Classification

Malformation syndrome

Synonyms
ACS5
ACS 5
Akrocefalosyndaktylia typu 5
Acrocephalosyndactyly type 5
ORPHA code
710
OMIM code
101600
ICD10 code
Q87.0
ICD11 code
LD24.G0

No additional description.

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