Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Synonyms: Kozlowski-Tsuruta syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal
- Status
- active
A form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type | Kozlowski-Tsuruta syndrome |
| fr | Hyperostose corticale dysplasique type Kozlowski-Tsuruta | Syndrome de Kozlowski-Tsuruta |
| de | Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta | Kozlowski-Tsuruta-Syndrom |
| es | Hiperostosis cortical displásica tipo Kozlowski-Tsuruta | Síndrome de Kozlowski-Tsuruta |
| it | Iperostosi corticale displastica, tipo Kozlowski-Tsuruta | Sindrome di Kozlowski-Tsuruta |
| nl | Dysplastische corticale hyperostose, Kozlowski-Tsuruta-type | Syndroom van Kozlowski-Tsuruta |
| pt | Hiperostose cortical displásica, tipo Kozlowski-Tsuruta | Síndrome Kozlowski-Tsuruta |
| pl | Dysplastyczna hiperostoza korowa typu Kozłowskiego i Tsuruta | Zespół Kozlowskiego i Tsuruta |
| cs | Dysplastická kortikální hyperostóza, typ Kozlowski-Tsuruta | Kozlowského-Tsurutův syndrom · Kozlowski-Tsurutův syndrom |
| uk | Диспластичний кортикальний гіперостоз, тип Козловського-Цурути | Синдром Козловського-Цурути |
| zh | 皮质发育不全性骨肥厚 | Kozlowski-Tsuruta 综合征 |
| tr | Displastik kortikal hiperostoz | Kozlowski-Tsuruta sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M85.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | attributed | validated |
| MONDO | 0100527 | E | validated | |
| UMLS | C5780027 | 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:646139Dysplastic cortical hyperostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 12401992[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12401992[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0002813 | Abnormality of limb bone morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0002240 | Hepatomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0009826 | Limb undergrowth | |
| HP:0000252 | Microcephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2204
- This record as JSON: /data/d/2204.json