Monosomy 5p

Orpha code: 281OMIM code: 123450

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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