Pyknoachondrogenesis
historical
Synonyms: Camera syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare lethal chondrodysplasia characterized by severe generalized osteosclerosis. Main clinical manifestations include large head, palpebral edema, flat nose, low-set ears, hexagon-like mouth, a short neck (hidden by skin folds), a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism with rather normal-length hands and feet. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. It has a lethal outcome, either prenatally or during the early neonatal period. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyknoachondrogenesis | Camera syndrome |
| fr | Pycnoachondrogenèse | Syndrome de Camera |
| de | Pyknoachondrogenesie | Camera-Syndrom |
| es | Picnoacondrogénesis | |
| it | Picnoacondrogenesi | |
| nl | Pycnoachondrogenese | Syndroom van Camera |
| pt | Picnoacondrogénese | |
| pl | Pyknoachondrogeneza | Zespół Camera |
| cs | Pyknoachondrogeneze | Camerův syndrom |
| uk | Пікноахондрогенез | Синдром Камера |
| zh | 频发性无软骨生成 | 卡梅拉氏综合征 |
| tr | Piknoakondrogenez | Camera sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265880 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | FB82.Y | NTBT | index | validated |
| MONDO | 0009942 | E | validated | |
| MeSH | C536251 | E | validated | |
| UMLS | C1849523 | E | validated | |
| GARD | 4610 | 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 (1):
- ORPHA:93465Lethal chondrodysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 7460382[PMID]_3791681[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7460382[PMID]_3791681[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
23 annotations · validated 2019-10-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0012790 | Abnormal intramembranous ossification | |
| HP:0011338 | Abnormality of mouth shape | |
| HP:0011867 | Abnormality of the wing of the ilium | |
| HP:0008817 | Aplastic pubic bones | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0100625 | Enlarged thorax | |
| HP:0000888 | Horizontal ribs | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0040194 | Increased head circumference | |
| HP:0000369 | Low-set ears | |
| HP:0002983 | Micromelia | |
| HP:0100748 | Muscular edema | |
| HP:0100540 | Palpebral edema | |
| HP:0100856 | Poorly ossified vertebrae | |
| HP:0002694 | Sclerosis of skull base | |
| HP:0100866 | Short iliac bones | |
| HP:0003026 | Short long bone | |
| HP:0000773 | Short ribs | |
| HP:0010306 | Short thorax | |
| HP:0030290 | Unossified sacrum | |
| HP:0000465 | Webbed neck | |
Annotation source: 3791681[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3003
- This record as JSON: /data/d/3003.json