MASA syndrome
Synonyms: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MASA syndrome | Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome |
| fr | Syndrome MASA | Syndrome de déficience intellectuelle-aphasie-brachybasie-pouces en adduction |
| de | MASA-Syndrom | Intelligenzminderung-Aphasie-schlurfender Gang-adduzierte Daumen-Syndrom |
| es | Síndrome MASA | Síndrome de discapacidad intelectual-afasia-marcha arrastrando los pies-pulgares en aducción |
| it | Sindrome MASA | Sindrome deficit cognitivo-afasia-andatura strascicata-pollici addotti |
| nl | MASA-syndroom | Intellectuele achterstand - afasie - schuifelende gang - geadduceerde duimen-syndroom |
| pt | Síndrome MASA | Síndrome de perturbação do desenvolvimento intelectual-afasia-marcha instável-polegares aductos |
| pl | Zespół MASA | Zespół niepełnosprawność intelektualna - afazja - powłóczysty chód - przywiedzione kciuki |
| cs | MASA syndrom | Mentální retardace, afázie, šouravá chůze a addukované palce |
| uk | Синдром МАSА | Синдром Іітелектуальної недостатності-афазії-шаркаючої ходи-доданих великих пальців |
| zh | MASA综合征 | 智力障碍-失语-曳行步态-拇指内收综合征 |
| tr | MASA sendromu | Zihinsel yetersizlik-afazi-yürüyüş karıştırma-addukte başparmak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303350 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.02 | NTBT | index | validated |
| MONDO | 0010559 | E | validated | |
| MeSH | C536029 | E | validated | |
| UMLS | C0795953 | E | validated | |
| GARD | 6986 | 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 (2):
- ORPHA:275543L1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98888X-linked complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85330X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| L1CAM | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001288 | Gait disturbance | |
| HP:0001188 | Hand clenching | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0004322 | Short stature | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2466
- This record as JSON: /data/d/2466.json