Charlie M syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charlie M syndrome | |
| fr | Syndrome Charlie M | |
| de | Charlie M-Syndrom | |
| es | Síndrome de Charlie M | |
| it | Sindrome Charlie M | |
| nl | Syndroom van Charlie M | |
| pt | Síndrome Charlie M | |
| pl | Zespół Charliego M | |
| cs | Charlie M syndrom | |
| uk | Синдром Чарлі М | |
| zh | 查理M综合征 | |
| tr | Charlie M sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.0Y | NTBT | index | validated |
| MONDO | 0015367 | E | validated | |
| UMLS | C4518555 | E | validated | |
| GARD | 1261 | 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 (6):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:2749Oromandibular-limb hypogenesis syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare surgical maxillo-facial 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_940017[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 940017[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0001171 | Split hand | |
| HP:0000233 | Thin vermilion border | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000322 | Short philtrum | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000400 | Macrotia | |
| HP:0001199 | Triphalangeal thumb | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1406
- This record as JSON: /data/d/1406.json