Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-advanced bone age-early-onset osteoarthritis syndrome | |
| fr | Syndrome de petite taille-âge osseux avancé-arthrose précoce | |
| de | Kleinwuchs-beschleunigte Knochenalterung-früh beginnende Osteoarthritis-Syndrom | |
| es | Síndrome de talla baja-edad ósea avanzada-osteoartritis de inicio precoz | |
| it | Sindrome da bassa statura, età ossea avanzata ed osteoartrite ad esordio precoce | |
| nl | Kleine gestalte - gevorderde botleeftijd - vroeg beginnende osteoartritis-syndroom | |
| pt | Síndrome de baixa estatura-idade óssea avançada-osteoartrite de início precoce | |
| pl | Zespół niskiego wzrostu, zaawansowanego wieku kostnego i zapalenia kości i stawów o wczesnym początku | |
| cs | Syndrom zahrnující malý vzrůst, urychlený kostní věk a osteoartrózu s časným nástupem | |
| uk | Синдром низькорослості-збільшеного кісткового віку-раннього остеоартрозу | |
| zh | 身材矮小-骨龄过高-早发性骨关节炎综合征 | |
| tr | Kısa boy-ileri kemik yaşı-erken başlangıçlı osteoartrit sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165800 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.Y | NTBT | attributed | validated |
| MONDO | 0018566 | E | validated | |
| UMLS | C5681177 | 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:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:674499Proteoglycan-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:319 | ENSG00000157766 | 155760 | 15q26.1 | aggrecan | 24762113[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 24762113[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24762113[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
5 annotations · validated 2016-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0007281 | Developmental stagnation | |
| HP:0011800 | Midface retrusion | |
| HP:0009778 | Short thumb | |
| Occasional (29-5%) | ||
| HP:0002758 | Osteoarthritis | |
Annotation source: 24762113[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435804
- This record as JSON: /data/d/435804.json