Cooks syndrome
Synonyms: Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cooks syndrome | Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP |
| fr | Syndrome de Cooks | ODP · Syndrome d'anonychie-onychodystrophie avec hypoplasie ou absence de phalanges distales |
| de | Cooks-Syndrom | Anonychie-Onychodystrophie mit Hypoplasie oder Fehlen der distalen Phalangen |
| es | Síndrome de Cooks | Anoniquia-onicodistrofia con hipoplasia o ausencia de falanges distales · ODP |
| it | Sindrome di Cooks | Anonichia - onicodistrofia con ipoplasia o assenza delle falangi distali · ODP |
| nl | Syndroom van Cooks | Anonychie - onychodystrofie met hypoplasie of afwezigheid van distale falangen-syndroom · ODP |
| pt | Síndrome Cooks | Anoníquia-onicodistrofia com hipoplasia ou ausência das falanges distais |
| pl | Zespół Cooksa | Anonychia - onychodystrofia z hipoplazją lub brakiem paliczków dalszych · ODP |
| cs | Cooksové syndrom | Syndrom zahrnující anonychii a onychodystrofii s hypoplázií nebo aplázií distálního falangu · ODP |
| uk | Синдром Кукса | Синдром аноніхії - оніходистрофії з гіпоплазією або відсутністю дистальних фаланг · ODP |
| zh | Cooks综合征 | 无甲或甲发育不全伴末节指骨发育不全或缺失综合征 |
| tr | Cooks Sendromu | ODP · Hipoplazili anonişi-onikodistrofi veya distal falanks sendromunun yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106995 | E | validated | |
| ICD-10 | Q84.6 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007134 | E | validated | |
| MeSH | C537766 | E | validated | |
| UMLS | C1862841 | E | validated | |
| GARD | 4083 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2355Kumar-Levick syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 22329539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22329539[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0001156 | Brachydactyly | |
| HP:0011304 | Broad thumb | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0001171 | Split hand | |
| HP:0001199 | Triphalangeal thumb | |
| Frequent (79-30%) | ||
| HP:0008388 | Abnormal toenail morphology | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1487
- This record as JSON: /data/d/1487.json