Cri-du-chat syndrome

Preferred Label : Cri-du-chat syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cat cry syndrome; Chromosome 5p deletion syndrome;

Description : Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion of 560 kb to 40 Mb on chromosome 5p15.2;

Prefixed ID : #123450;

Details

Origin ID

123450;

UMLS CUI

C0010314;

Automatic exact mappings (from CISMeF team)
- Deletion 5p (morphologic abnormality) [SNOMED CT concept]
- Deletions of chromosome 5 [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- 5p partial monosomy syndrome [SNOMED Notion]
- 5p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Cri du Chat Syndrome [NCIt concept]
- Cri du Chat syndrome [MedDRA Preferred Term]
- Cri du chat syndrome [PASCAL descriptor]
- Cri-Du-Chat syndrome [DO Concept]
- Cri-du-Chat syndrome [MeSH concept]
- Cri-du-chat syndrome [ICD-11 More detail]
- Cri-du-chat syndrome [ICD-9 code]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category (who)]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category]
- Monosomy 5p [ORDO Disease]
- Monosomy 5p [MeSH concept]
- cri du chat syndrome [Disease (Nov.)]
- cri-du-chat syndrome [MeSH Descriptor]
- monosomy 5p [MeSH Supplementary Concept]
DO Cross reference
- Cri-Du-Chat syndrome [DO Concept]
HPO term(s)
- Abnormal respiratory system physiology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Abnormality of the pinna [HPO term]
- Aggressive behavior [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Bifid uvula [HPO term]
- Cat cry [HPO term]
- Cataract [HPO term]
- Conspicuously happy disposition [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Delayed speech and language development [HPO term]
- Diastasis recti [HPO term]
- Difficulty walking [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Echolalia [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Facial grimacing [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Growth delay [HPO term]
- Growth retardation, prenatal and postnatal [HPO term]
- Hearing impairment [HPO term]
- High axial triradius [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hyperacusis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long, narrow facies [HPO term]
- Low-set ears [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Myopia [HPO term]
- Narrow face [HPO term]
- Neonatal hypotonia [HPO term]
- Oppositional defiant disorder [HPO term]
- Optic atrophy [HPO term]
- Oral cleft [HPO term]
- Overfriendliness [HPO term]
- Pes planus [HPO term]
- Poorly formed pinnae [HPO term]
- Preauricular skin tag [HPO term]
- Premature graying of hair [HPO term]
- Prominent supraorbital ridges [HPO term]
- Recurrent infections in infancy and early childhood [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Self-mutilation [HPO term]
- Short attention span [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Small for gestational age [HPO term]
- Speech and language difficulties [HPO term]
- Sporadic [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Thick lower lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Monosomy 5p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5p partial monosomy syndrome [SNOMED Notion]
- 5p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Cri du Chat Syndrome [NCIt concept]
- Cri du Chat syndrome [MedDRA Preferred Term]
- Cri-Du-Chat syndrome [DO Concept]
- Cri-du-Chat syndrome [MeSH concept]
- Cri-du-chat syndrome [ICD-9 code]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category (who)]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category]
- Monosomy 5p [ORDO Disease]
- Partial deletion of the short arm of chromosome 5 [ORDO Disease]
- cri-du-chat syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- Deletions of the short arm of chromosome 5 [ICD-11 Sub-sub category]

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