Megalocornea-intellectual disability syndrome
Synonyms: MMR syndrome · Neuhäuser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megalocornea-intellectual disability syndrome | MMR syndrome · Neuhäuser syndrome |
| fr | Syndrome de mégalocornée-déficience intellectuelle | Syndrome de Neuhäuser |
| de | Megalokornea-Intelligenzminderung-Syndrom | MMR-Syndrom · Neuhäuser-Syndrom |
| es | Síndrome de megalocórnea-discapacidad intelectual | Síndrome de Neuhäuser |
| it | Sindrome megalocornea-disabilità intellettiva | Sindrome MMR · Sindrome di Neuhäuser |
| nl | Megalocornea - intellectuele achterstand-syndroom | MMR-syndroom · Syndroom van Neuhäuser |
| pt | Síndrome de megalocórnea-perturbação do desenvolvimento intelectual | Síndrome Neuhäuser |
| pl | Zespół rogówki olbrzymiej i niepełnosprawności intelektualnej | Zespół MMR · Zespół Neuhäusera |
| cs | Syndrom zahrnující megalokorneu a mentální retardaci | MMR syndrom · Neuhäuserův syndrom |
| uk | Синдром мегалокорнеа - інтелектуальної недостатності | MMR-синдром · Синдром Нойгаузера |
| zh | 球形角膜-智力障碍综合征 | Neuhäuser综合征 |
| tr | Megalokornea-zihinsel yetersizlik sendromu | MMR sendromu · Neuhäuser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249310 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009577 | E | validated | |
| MeSH | C536143 | E | validated | |
| UMLS | C0796086 | E | validated | |
| GARD | 3448 | 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: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:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic 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 | 40 cases | Worldwide | Case(s) | Validated | 24032289[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24032289[PMID]_ORPHANET |
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
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000485 | Megalocornea | |
| HP:0000347 | Micrognathia | |
| Frequent (79-30%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0002970 | Genu varum | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0100693 | Iridodonesis | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0010508 | Metatarsus valgus | |
| HP:0000545 | Myopia | |
| HP:0000194 | Open mouth | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
| HP:0001251 | Ataxia | |
| HP:0002353 | EEG abnormality | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000938 | Osteopenia | |
| HP:0000411 | Protruding ear | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000322 | Short philtrum | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2479
- This record as JSON: /data/d/2479.json