Pelvis-shoulder dysplasia
Synonyms: Kosenow syndrome · Scapuloiliac dysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Additional skeletal abnormalities may include hypoplasia of the clavicles, phalanges, ribs, femora and fibula, spina bifida, prominent lumbar lordosis, camptodactyly and clubbed feet. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Patients do not exhibit craniocervical abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelvis-shoulder dysplasia | Kosenow syndrome · Scapuloiliac dysostosis |
| fr | Dysplasie de l'épaule et du pelvis | Dysostose scapulo-iliaque · Syndrome de Kosenow |
| de | Becken-Schulter-Dysplasie | Dysostose, skapulo-iliakale · Kosenow-Syndrom |
| es | Displasia de hombro y pelvis | |
| it | Displasia scapola-bacino | Disostosi scapoloiliaca |
| nl | Dysplasie van bekken-schouder | Scapulo-iliacale dysostose · Syndroom van Kosenow |
| pt | Displasia escapulo-pélvica | Disostose escapulo-ilíaca |
| pl | Dysplazja miedniczo-ramienna | Dyzostoza łopatkowo-biodrowa · Zespół Kosenowa |
| cs | Dysplázie pánve a ramene | Skapuloiliakální dysostóza · Kosenowův syndrom |
| uk | Тазово-плечова дисплазія | Синдром Косенова · Лопатково-куприковий дизостоз |
| zh | 骨盆-肩发育不良 | 肩胛髂骨发育不良 |
| tr | Pelvis-omuz displazisi | Kosenow sendromu · Skapuloiliak dizostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169550 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0008217 | E | validated | |
| MeSH | C566811 | E | validated | |
| UMLS | C1868508 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; 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 | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
41 annotations · validated 2017-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005775 | Multiple skeletal anomalies | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0006077 | Absent proximal finger flexion creases | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0006712 | Aplasia/Hypoplasia of the ribs | |
| HP:0006713 | Aplasia/Hypoplasia of the scapulae | |
| HP:0005613 | Aplasia/hypoplasia of the femur | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0003083 | Dislocated radial head | |
| HP:0009937 | Facial hirsutism | |
| HP:0005769 | Fifth finger distal phalanx clinodactyly | |
| HP:0002324 | Hydranencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0000612 | Iris coloboma | |
| HP:0000890 | Long clavicles | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | |
| HP:0000482 | Microcornea | |
| HP:0000171 | Microglossia | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0008857 | Neonatal short-trunk short stature | |
| HP:0008472 | Prominent protruding coccyx | |
| HP:0000480 | Retinal coloboma | |
| HP:0012745 | Short palpebral fissure | |
| HP:0004322 | Short stature | |
| HP:0002414 | Spina bifida | |
| HP:0001159 | Syndactyly | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009100 | Thick anterior alveolar ridges | |
| HP:0002515 | Waddling gait | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7103674[PMID]_11146473[PMID]_9732492[PMID]_11146474[PMID]_16025020[PMID]_9732492[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2839
- This record as JSON: /data/d/2839.json