Intellectual disability-polydactyly-uncombable hair syndrome
Synonyms: Kozlowski-Krajewska syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-polydactyly-uncombable hair syndrome | Kozlowski-Krajewska syndrome |
| fr | Syndrome de déficience intellectuelle-polydactylie-cheveux incoiffables | Syndrome de Kozlowski-Krajewska |
| de | Intelligenzminderung-Polydaktylie-unkämmbare Haare-Syndrom | Kozlowski-Krajewska-Syndrom |
| es | Síndrome de discapacidad intelectual-polidactilia-cabellos impeinables | Síndrome de Kozlowski-Krajewska |
| it | Sindrome disabilità intellettiva-polidattilia-capelli impettinabili | Sindrome Kozlowski-Krajewska |
| nl | Intellectuele achterstand - polydactylie - onkambaar haar-syndroom | Syndroom van Kozlowski-Krajewska |
| pt | Síndrome de perturbação do desenvolvimento intelectual-polidactilia-cabelo impenteável | Síndrome Kozlowski-Krajewska |
| pl | Niepełnosprawność intelektualna - polidaktylia - nieuczesane włosy | Zespół Kozlowskiego i Krajewskiej |
| cs | Syndrom zahrnující mentální retardaci, polydaktylii a neučesatelné vlasy | Kozlowského-Krajewské syndrom · Kozlowski-Krajewské syndrom |
| uk | Синдром інтелектуальної недостатності-полідактилії-випадіння волосся | Синдром Козловського-Краєвської |
| zh | 智力障碍-多指（趾）畸形-异常毛发综合征 | Kozlowski-Krajewska 综合征 |
| tr | Zihinsel yetersizlik-polidaktili-taranamayan saç sendromu | Kozlowski-Krajewska sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0017682 | E | validated | |
| MeSH | C537615 | E | validated | |
| UMLS | C2931547 | E | validated | |
| GARD | 3141 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 9028447[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9028447[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
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009896 | Abnormality of the antitragus | |
| HP:0001595 | Abnormality of the hair | |
| HP:0006265 | Aplasia/Hypoplasia of fingers | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0001991 | Aplasia/Hypoplasia of toe | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0002007 | Frontal bossing | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0010508 | Metatarsus valgus | |
| HP:0000347 | Micrognathia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000768 | Pectus carinatum | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0002217 | Slow-growing hair | |
| HP:0001770 | Toe syndactyly | |
| HP:0030056 | Uncombable hair | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3082
- This record as JSON: /data/d/3082.json