ORPHA:281
Monosomy 5p syndrome
Synonyms: Cri du chat syndrome · Deletion 5p
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal
- Status
- active
A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 5p syndrome | Cri du chat syndrome · Deletion 5p |
| fr | Syndrome de monosomie 5p | Délétion 5p · Syndrome du cri du chat |
| de | 5p-minus-Syndrom | Chromosom-5p-Syndrom · Cri-du-chat-Syndrom · Deletion 5p · Katzenschrei-Syndrom · Monosomie 5p |
| es | Síndrome de monosomía 5p | Deleción 5p- · Síndrome 'cri-du-chat' · Síndrome del maullido de gato |
| it | Sindrome da monosomia 5p | Delezione 5p · Sindrome del "cri du chat" |
| nl | Monosomie 5p-syndroom | Cri-du-chat syndroom · Deletie 5p |
| pt | Monossomia 5p | Deleção 5p · Síndrome do miar do gato |
| pl | Zespół monosomii 5p | Delecja 5p · Zespół kociego płaczu |
| cs | Monozomie 5p | Syndrom cri du chat · Delece 5p · Syndrom kočičího křiku |
| uk | Моносомія 5p | Синдром котячого крику · Делеція 5p |
| zh | 单体型5p | 猫叫综合征 |
| tr | Monozomi 5p | Delesyon 5p · Cri du chat sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123450 | E | validated | |
| ICD-10 | Q93.4 | NTBT | inclusion | validated |
| ICD-11 | LD44.51 | NTBT | index | validated |
| MONDO | 0007404 | E | validated | |
| MeSH | D003410 | E | validated | |
| UMLS | C0010314 | E | validated | |
| GARD | 6213 | E | validated | |
| MedDRA | 10011385 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:261893Partial deletion of the short arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEMA5A | Candidate gene tested in | Not yet assessed | HGNC:10736 | ENSG00000112902 | 609297 | 5p15.31 | semaphorin 5A | |
| CTNND2 | Role in the phenotype of | Assessed | HGNC:2516 | ENSG00000169862 | 604275 | 5p15.2 | catenin delta 2 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Japan | Value and class | Validated | 2092586[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.22 / 100 000 | Denmark | Value and class | Validated | 365706[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0200046 | Cat cry | |
| HP:0000286 | Epicanthus | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000311 | Round face | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0006101 | Finger syndactyly | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002757 | Recurrent fractures | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281
- This record as JSON: /data/d/281.json