Osteoglosphonic dysplasia
Synonyms: Osteoglophonic dwarfism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare primary bone dysplasia with disorganized development of skeletal components characterized by rhizomelic dwarfism, severe craniofacial dysmorphism including craniosynostosis, acrocephaly, a prominent forehead, midface hypoplasia, hypertelorism, depressed nasal bridge, anteverted nostrils, macroglossia, unerupted teeth. Patients also present with short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. Intelligence is not affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteoglosphonic dysplasia | Osteoglophonic dwarfism |
| fr | Dysplasie ostéoglophonique | Nanisme ostéoglophonique |
| de | Dysplasie, osteoglophone | Kleinwuchs, osteoglophoner |
| es | Displasia osteoglofónica | Enanismo osteoglofónico |
| it | Nanismo osteoglofonico | |
| nl | Osteoglofone dysplasie | Osteoglofone dwerggroei |
| pt | Nanismo osteoglofónico | |
| pl | Niskorosłość osteoglofoniczna | = en |
| cs | Osteoglofonické trpaslictví | = en |
| uk | Остеоглосфонна дисплазія | Остеоглофонічна карликовість |
| zh | 骨关节发育不良 | 单纯性三角头侏儒症 |
| tr | Osteoglosfonik displazi | Osteoglofonik cücelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166250 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0008150 | E | validated | |
| MeSH | C536050 | E | validated | |
| UMLS | C0432283 | E | validated | |
| GARD | 4142 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
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 |
|---|---|---|---|---|---|---|---|---|
| FGFR1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 15625620[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 3409933[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3409933[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001363 | Craniosynostosis | |
| HP:0000316 | Hypertelorism | |
| HP:0006283 | Multiple unerupted teeth | |
| HP:0003510 | Severe short stature | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000463 | Anteverted nares | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0000347 | Micrognathia | |
| HP:0000411 | Protruding ear | |
| HP:0008905 | Rhizomelia | |
| Occasional (29-5%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0001156 | Brachydactyly | |
| HP:0000453 | Choanal atresia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0002650 | Scoliosis | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2645
- This record as JSON: /data/d/2645.json