Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome | |
| fr | Syndrome de microcéphalie-fente palatine-pigmentation rétinienne anormale | |
| de | Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom | |
| es | Síndrome de microcefalia-paladar hendido-pigmentación retiniana anómala | Síndrome de Halal |
| it | Sindrome da microcefalia, palatoschisi e anomalie della pigmentazione retinica | Sindrome di Halal |
| nl | Microcefalie - gespleten verhemelte - abnormale retinale pigmentatie-syndroom | Syndroom van Halal |
| pt | Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal | Síndrome Halal |
| pl | Małogłowie - rozszczep podniebienia | Zespół Halal |
| cs | Syndrom zahrnující mikrocefalii a rozštěp patra | Halalův syndrom |
| uk | Синдром мікроцефалії-розщілини піднебіння-аномальної пігментації сітківки | |
| zh | 小头畸形-腭裂-视网膜异常色素沉着综合征 | |
| tr | Mikrosefali-yarık damak-anormal retina pigmentasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016750 | E | validated | |
| UMLS | C2930954 | E | validated | |
| GARD | 8623 | 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 (3):
- 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.
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 | 6859112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6859112[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
12 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0000252 | Microcephaly | |
| HP:0000176 | Submucous cleft hard palate | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000278 | Retrognathia | |
| HP:0001328 | Specific learning disability | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2521
- This record as JSON: /data/d/2521.json