5p deletion with cat-like cry and intellectual disability.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric genetics
- Sex & age distribution
- Male: affected; Female: affected, slight female predominance; Children: yes, from birth
- Gene(s) involved
- CTNND2, SEMA5A, TERT
- Alternative names & eponyms
- 5p deletion syndrome
Etiology & mechanism
Terminal deletion of the short arm of chromosome 5.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with Cri du chat syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Cohen syndrome
hypotonia, intellectual disability, microcephaly
3 shared
Kleefstra syndrome
hypotonia, intellectual disability, microcephaly
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Cerebral folate deficiency syndrome
hypotonia, microcephaly
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
2 shared
Emanuel syndrome
hypotonia, microcephaly
2 shared
Fetal alcohol syndrome
intellectual disability, microcephaly
2 shared
Lowe syndrome
hypotonia, intellectual disability
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