Pelviscapular dysplasia
Synonyms: Cousin syndrome · Familial pelvis-scapular dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare dysostosis characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, short stature and craniofacial abnormalities. Facial dysmorphism is characterized by macrocephaly with frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and low hairline.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelviscapular dysplasia | Cousin syndrome · Familial pelvis-scapular dysplasia |
| fr | Dysplasie pelviscapulaire | Dysplasie pelviscapulaire familiale · Syndrome de Cousin |
| de | Dysplasie, pelvi-skapuläre | Becken-Scapula-Dysplasie, familiäre · Cousin-Syndrome |
| es | Síndrome de Cousin-Walbraum-Cegarra | |
| it | Sindrome di Cousin-Walbraum-Cegarra | |
| nl | Pelviscapulaire dysplasie | Familiale dysplasie van bekken en schouderblad · Familiale dysplasie van pelvis en scapula · Syndroom van Cousin |
| pt | Displasia pelviscapular | Displasia pelviscapular familiar · Síndrome Cousin |
| pl | Dyspazja miedniczno-łopatkowa | Rodzinna dyspazja miedniczno-łopatkowa · Zespół Cousina |
| cs | Pelviskapulární dysplázie | Familiární dysplázie pánve a lopatky · Cousinův syndrom |
| uk | Тазово-лопаткова дисплазія | Синдром Кузена · Сімейна тазово-лопаткова дисплазія |
| zh | 肩胛骨盆发育不良 | 家族性骨盆-肩胛骨发育不良 |
| tr | Pelviskapular displazi | Cousin sendromu · Ailesel pelvis-skapular displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260660 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0009845 | E | validated | |
| MeSH | C535550 | E | validated | |
| UMLS | C1850040 | E | validated | |
| GARD | 1555 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX15 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11594 | ENSG00000092607 | 604127 | 1p12 | T-box transcription factor 15 | 19068278[PMID]_24039145[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19068278[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19068278[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
24 annotations · validated 2016-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003943 | Abnormality of the joint spaces of the elbow | |
| HP:0001156 | Brachydactyly | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000256 | Macrocephaly | |
| HP:0004987 | Mesomelic leg shortening | |
| HP:0003097 | Short femur | |
| HP:0000470 | Short neck | |
| Very frequent (99-80%) | ||
| HP:0002693 | Abnormality of the skull base | |
| HP:0000369 | Low-set ears | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0000490 | Deeply set eye | |
| HP:0002007 | Frontal bossing | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0002162 | Low posterior hairline | |
| HP:0005989 | Redundant neck skin | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19068278[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93333
- This record as JSON: /data/d/93333.json