Cri-du-chat syndrome
MONDO:0007404Mondo
Findings
No curated finding names Cri-du-chat syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0007404), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
HPO, annotations 2026-09-02
Features
81 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Very frequent (80% to 99% of cases)
- Cat cryHPOHP:0200046
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Microretrognathia
Show the remaining 69
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
Where it sits
Other names
7 names
Resolves to: Cri-du-chat syndrome
- Also called
- 5p deletion syndrome5p partial monosomy syndromeCat-Cry syndromechromosome 5p deletion syndromeCri du Chat Syndromedeletion 5pmonosomy type 5p