Cri-Du-Chat syndrome (DOID:12580)
Alliance: disease page
Synonyms: 5p deletion syndrome; 5p partial monosomy syndrome; chromosome 5 short arm deletion syndrome; chromosome 5p deletion syndrome
Alt IDs: OMIM:123450, ICD10CM:Q93.4, ICD9CM_2006:758.31, ICD9CM:758.31, MESH:D003410, NCI:C34518, UMLS_CUI:C0010314
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.