Fibrochondrogenesis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period persents with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrochondrogenesis | |
| fr | Fibrochondrogenèse | |
| de | Fibrochondrogenesie | |
| es | Fibrocondrogénesis | |
| it | Fibrocondrogenesi | |
| nl | Fibrochondrogenese | |
| pt | Fibrocondrogénese | |
| pl | Fibrochondrogeneza | |
| cs | Fibrochondrogeneze | |
| uk | Фіброхондрогенез | |
| zh | 纤维软骨增生 | |
| tr | Fibrokondrojenez |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228520 | E | validated | |
| OMIM | 614524 | BTNT | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0016068 | E | validated | |
| MeSH | C562524 | E | validated | |
| UMLS | C0265282 | E | validated | |
| GARD | 2321 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93422Type 11 collagen-related bone disorder
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL11A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2186 | ENSG00000060718 | 120280 | 1p21.1 | collagen type XI alpha 1 chain | 21035103[PMID] |
| COL11A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2187 | ENSG00000204248 | 120290 | 6p21.32 | collagen type XI alpha 2 chain | 22246659[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 24127948[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24127948[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0001156 | Brachydactyly | |
| HP:0000885 | Broad ribs | |
| HP:0000774 | Narrow chest | |
| HP:0000520 | Proptosis | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0000773 | Short ribs | |
| HP:0004322 | Short stature | |
| HP:0000260 | Wide anterior fontanel | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000175 | Cleft palate | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000364 | Hearing abnormality | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000369 | Low-set ears | |
| HP:0000160 | Narrow mouth | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000316 | Hypertelorism | |
| HP:0002983 | Micromelia | |
| HP:0001539 | Omphalocele | |
| HP:0001357 | Plagiocephaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2021
- This record as JSON: /data/d/2021.json