Achondrogenesis type 1B
Synonyms: Achondrogenesis, Parenti-Fraccaro type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Achondrogenesis type 1B | Achondrogenesis, Parenti-Fraccaro type |
| fr | Achondrogenèse type 1B | Achondrogenèse type Parenti-Fraccaro |
| de | Achondrogenesie Typ 1B | |
| es | Acondrogénesis tipo 1B | Acondrogénesis tipo Parenti-Fraccaro |
| it | Acondrogenesi, tipo 1B | Acondrogenesi, tipo Parenti-Fraccaro |
| nl | Achondrogenesie type 1B | Achondrogenesie, Parenti-Fraccaro-type |
| pt | Acondrogénese tipo 1B | |
| pl | Achondrogeneza typu 1B | Achondrogeneza typu Parenti i Fraccaro |
| cs | Achondrogeneze, typ 1B | Achondrogeneze, Parentiho-Fraccarův typ · Achondrogeneze, Parenti-Fraccarův typ |
| uk | Ахондрогенез, тип 1B | Ахондрогенез, тип Паренті-Фракаро |
| zh | 软骨成长不全1B型 | 软骨成长不全，Parenti-Fraccaro型 |
| tr | Akondrogenez tipi 1B | Akondrogenez, Parenti-Fraccaro tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600972 | E | validated | |
| ICD-10 | Q77.0 | NTBT | attributed | validated |
| ICD-11 | LD24.50 | NTBT | index | validated |
| MONDO | 0010966 | E | validated | |
| MeSH | C536016 | E | validated | |
| UMLS | C0265274 | 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:93423Sulfation-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC26A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10994 | ENSG00000155850 | 606718 | 5q32 | solute carrier family 26 member 2 | 20301689[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301689[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003336 | Abnormal enchondral ossification | |
| HP:0000463 | Anteverted nares | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0003498 | Disproportionate short stature | |
| HP:0012368 | Flat face | |
| HP:0002007 | Frontal bossing | |
| HP:0001789 | Hydrops fetalis | |
| HP:0005716 | Lethal skeletal dysplasia | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0003510 | Severe short stature | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0010306 | Short thorax | |
| HP:0000474 | Thickened nuchal skin fold | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0100541 | Femoral hernia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000476 | Cystic hygroma | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93298
- This record as JSON: /data/d/93298.json