Conditions / Syndrome
Cri-Du-Chat syndrome
info · Syndrome · ICD-10: Q93.4
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 rou
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.
Signs and symptoms
- Epicanthus
- Echolalia
- Strabismus
- Hearing impairment
- Gastroesophageal reflux
- Short metacarpal
- Cataract
- Anterior open-bite malocclusion
- Aggressive behavior
- Autism
Also known as: 5p deletion syndrome; 5p partial monosomy syndrome; chromosome 5 short arm deletion syndrome; chromosome 5p deletion syndrome