Monosomy 5p

Orpha code: 281OMIM code: 123450

Definition

A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Cri du chat syndrome
Delecja 5p
Zespół kociego płaczu
Deletion 5p
ORPHA code
281
OMIM code
123450
ICD10 code
Q93.4
ICD11 code
LD44.51

No additional description.

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