Achondrogenesis type 2
Synonyms: Achondrogenesis, Langer-Saldino type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Achondrogenesis type 2 | Achondrogenesis, Langer-Saldino type |
| fr | Achondrogenèse type 2 | Achondrogenèse type Langer-Saldino |
| de | Achondrogenesie Typ 2 | |
| es | Acondrogénesis tipo 2 | Acondrogénesis tipo Langer-Saldino |
| it | Acondrogenesi, tipo 2 | Acondrogenesi, tipo Langer-Saldino |
| nl | Achondrogenesie type 2 | Achondrogenesie, Langer-Saldino-type |
| pt | Acondrogénese tipo 2 | |
| pl | Achondrogeneza typu 2 | Achondrogeneza typu Langera i Saldino |
| cs | Achondrogeneze, typ 2 | Achondrogeneze, Langerův-Saldinův typ · Achondrogeneze, Langer-Saldinův typ |
| uk | Ахондрогенез, тип 2 | Ахондрогенез, тип Лангера-Сальдіно |
| zh | 软骨成长不全2型 | 软骨成长不全，Langer-Saldino型 |
| tr | Akondrogenez tip 2 | Akondrogenez, Langer-Saldino tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200610 | E | validated | |
| ICD-10 | Q77.0 | NTBT | attributed | validated |
| ICD-11 | LD24.50 | NTBT | index | validated |
| MONDO | 0008702 | E | validated | |
| MeSH | C536017 | E | validated | |
| UMLS | C0220685 | 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:932Achondrogenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 10797431[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
25 annotations · validated 2020-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003026 | Short long bone | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0004605 | Absent vertebral body mineralization | |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0008788 | Delayed pubic bone ossification | |
| HP:0031096 | Delayed vertebral ossification | |
| HP:0000969 | Edema | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000773 | Short ribs | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0030290 | Unossified sacrum | |
| Occasional (29-5%) | ||
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0000518 | Cataract | |
| HP:0000365 | Hearing impairment | |
| HP:0001132 | Lens subluxation | |
| HP:0000545 | Myopia | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31021589[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93296
- This record as JSON: /data/d/93296.json