Lethal faciocardiomelic dysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal faciocardiomelic dysplasia | |
| fr | Dysplasie facio-cardio-mélique létale | |
| de | Dysplasie, faziokardiomele letale | |
| es | Displasia faciocardiomélica | |
| it | Sindrome facio-cardio-melica | |
| nl | Letale facio-cardio-melische dysplasie | |
| pt | Displasia facio-cardio-mélica letal | |
| pl | Śmiertelna dysplazja twarzowo-sercowo-kończynowa | |
| cs | Letální faciokardiomelická dysplázie | |
| uk | Летальна фаціокардіомелічна дисплазія | |
| zh | 致死性面-心发育不良 | |
| tr | Letal fasiyokardiyomelik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227270 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009204 | E | validated | |
| MeSH | C565578 | E | validated | |
| UMLS | C1856891 | E | validated | |
| GARD | 2229 | 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 (4):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; 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 | 3 cases | Worldwide | Case(s) | Validated | 1218241[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1218241[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000171 | Microglossia | |
| HP:0000308 | Microretrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0004059 | Radial club hand | |
| HP:0001852 | Sandal gap | |
| HP:0009237 | Short 5th finger | |
| HP:0009778 | Short thumb | |
| HP:0005736 | Short tibia | |
| Frequent (79-30%) | ||
| HP:0001643 | Patent ductus arteriosus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1972
- This record as JSON: /data/d/1972.json