Cri-Du-Chat syndrome

Term ID

DOID:12580

Synonyms

• 5p deletion syndrome
• 5p partial monosomy syndrome
• chromosome 5 short arm deletion syndrome
• chromosome 5p deletion syndrome

Definition

A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (2)

References

• GARD:6213
• ICD10CM:Q93.4
• ICD9CM:758.31
• MESH:D003410
• NCI:C34518
• OMIM:123450
• SNOMEDCT_US_2023_03_01:70173007
• UMLS_CUI:C0010314

Ontology

Human Disease   ( DOID:12580 )