Kosaki overgrowth syndrome
Synonyms: Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kosaki overgrowth syndrome | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome |
| fr | Syndrome hypertrophique de Kosaki | Syndrome d'hypercroissance de Kosaki · Syndrome de dysmorphie craniofaciale-hyperélasticité de la peau-lésions de la substance blanche |
| de | Kosaki-Großwuchs-Syndrom | Skelettaler Großwuchs-kraniofaziale Dysmorphien-hyperelastische Haut-Läsionen der weissen Substanz-Syndrom |
| es | Síndrome de sobrecrecimiento de Kosaki | Síndrome de sobrecrecimiento esquelético-dismorfia craneofacial-piel hiperelástica-lesiones en la sustancia blanca |
| it | Sindrome da iperaccrescimento di Kosaki | Sindrome da iperaccrescimento scheletrico-dismorfismi craniofacciali-iperelasticità cutanea-lesioni della sostanza bianca |
| nl | Overgroeisyndroom van Kosaki | Skeletale overgroei - craniofaciale dysmorfie - hyperelastische huid - laesies van witte stof-syndroom |
| pt | Síndrome de sobrecrescimento Kosaki | Síndrome de sobrecrescimento esquelético-dismorfia craniofacial-hiperelasticidade cutânea-lesões da substância branca |
| pl | Zespół nadmiernego wzrastania, dysmorfii czaszkowo-twarzowej, hiperplastycznej skóry i zmian w istocie białej | Zespół nadmiernego wzrastania Kosakiego · Zespół przerostu Kosaki |
| cs | Syndrom nadměrného růstu kostí, kraniofaciálního dysmorfismu, hyperplastické kůže a lézí bílé hmoty | Kosaki overgrowth syndrome · Kosakiho syndrom přerůstání |
| uk | Синдром надмірного росту Косакі | Синдром скелетного розростання - черепно-лицьового дисморфізму - гіпереластичної шкіри - ураження білої речовини |
| zh | 骨骼过度生长-颅面畸形-皮肤弹性过强-白质病变综合征 | Kosaki过度增生综合征 |
| tr | İskelet büyümesi-kraniyofasiyal dismorfizm-hiperelastik deri-beyaz madde lezyonları sendromu | Kosaki aşırı büyüme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616592 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0014704 | E | validated | |
| UMLS | C4225270 | E | validated | |
| MedDRA | 10081313 | 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 (1):
- ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDGFRB | Disease-causing germline mutation(s) in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 25454926[PMID]_26455322[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25454926[PMID]_26455322[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25454926[PMID]_26455322[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477831
- This record as JSON: /data/d/477831.json