ORPHA:562559
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Synonyms: MRAMS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anterior maxillary protrusion-strabismus-intellectual disability syndrome | MRAMS syndrome |
| fr | Syndrome de protrusion maxillaire antérieure-strabisme-déficience intellectuelle | Syndrome MRAMS |
| de | Vordere Oberkieferprotrusion-Strabismus-Intelligenzminderung-Syndrom | MRAMS-Syndrom |
| es | Síndrome de protrusión maxilar anterior-estrabismo-discapacidad intelectual | Síndrome MRAMS |
| it | Sindrome protrusione mascellare anteriore-strabismo-disabilità intellettiva | Sindrome MRAMS |
| nl | Anterieure maxillaire protrusie - strabisme - intellectuele achterstand-syndroom | MRAMS-syndroom |
| pt | Síndrome de protusão maxilar anterior-estrabismo-perturbação do desenvolvimento intelectual | |
| pl | Zespół niepełnosprawności intelektualnej, protruzji szczęki i zeza | Zespół MRAMS |
| cs | Syndrom zahrnující přední čelistní protruzi, strabismus a mentální retardaci | = en |
| uk | Синдром передньої верхньощелепної протрузії-косоокості-інтелектуальної недостатності | Синдром MRAMS |
| zh | 上颌前突-斜视-智力障碍综合征 | MRAMS综合征 |
| tr | Anterior maksiller çıkıntı-şaşılık-zihinsel yetersizlik sendromu | MRAMS sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613671 | E | validated | |
| ICD-10 | F72.8 | NTBT | attributed | not yet validated |
| MONDO | 0013353 | E | validated | |
| UMLS | C3150924 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOBP | Disease-causing germline mutation(s) in | Assessed | HGNC:29256 | ENSG00000112320 | 613667 | 6q21 | sine oculis binding protein homolog | 17618476[PMID]_21035105[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 17618476[PMID]_21035105[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17618476[PMID]_21035105[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562559
- This record as JSON: /data/d/562559.json