ORPHA:2213
Hypertelorism-microtia-facial clefting syndrome
Synonyms: Bixler-Christian-Gorlin syndrome · HMC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertelorism-microtia-facial clefting syndrome | Bixler-Christian-Gorlin syndrome · HMC syndrome |
| fr | Syndrome d'hypertélorisme-microtie-fente faciale | Syndrome HMC · Syndrome de Bixler-Christian-Gorlin |
| de | Hypertelorismus - Mikrotie - Gesichtsspalten | Bixler-Christian-Gorlin-Syndrom · HMC-Syndrom |
| es | Síndrome hipertelorismo-microtia-hendidura facial | |
| it | Ipertelorismo - microtia - schisi facciale | Sindrome HMC · Sindrome di Bixler-Christian-Gorlin |
| nl | Hypertelorisme - microtie - aangezichtsspleet-syndroom | HMC-syndroom · Syndroom van Bixler-Christian-Gorlin |
| pt | Síndrome de hipertelorismo-micrótia-fenda facial | Síndrome Bixler-Christian-Gorlin · Síndrome HMC |
| pl | Zespół hiperteloryzm -małe uszy-rozszczep twarzy | Zespół Bixlera, Christiana i Gorlina · Zespół HMC |
| cs | Syndrom zahrnující hypertelorismus, mikrocii a faciální rozštěp | HMC syndrom · Bixlerův-Christianův-Gorlinův syndrom · Bixler-Christian-Gorlinův syndrom |
| uk | Синдром гіпертелоризму-мікротії-розщеплення обличчя | Синдром Бікслера-Крістіана-Горліна · Синдром HMC |
| zh | 器官间距过远-小耳症-面部裂综合征 | Bixler-Christian-Gorlin综合征 |
| tr | Hipertelorizm-mikrotia-yüz yarığı sendromu | HMC sendromu · Bixler-Christian-Gorlin sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239800 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009404 | E | validated | |
| MeSH | C537632 | E | validated | |
| UMLS | C0220742 | E | validated | |
| GARD | 897 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 11152141[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11152141[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.
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HPO phenotypes
15 annotations · validated 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000316 | Hypertelorism | |
| HP:0009099 | Median cleft palate | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0001263 | Global developmental delay | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001249 | Intellectual disability | |
| HP:0003510 | Severe short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0003393 | Thenar muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0000456 | Bifid nasal tip | |
| HP:0011803 | Bifid nose | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2213
- This record as JSON: /data/d/2213.json