Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | |
| fr | Syndrome de déficience intellectuelle sévère-agénésie du corps calleux-dysmorphie faciale-ataxie cérébelleuse | |
| de | Schwere Intelligenzminderung-Corpus callosum-Agenesie-faziale Dysmorphien-zerebelläre Ataxie-Syndrom | |
| es | Síndrome de discapacidad intelectual grave-agenesia del cuerpo calloso-dismorfia facial-ataxia cerebelosa | |
| it | Sindrome disabilità intellettiva grave-agenesia del corpo calloso-dismorfismi facciali-atassia cerebellare | |
| nl | Ernstige intellectuele achterstand - agenesie van corpus callosum - faciale dysmorfie - cerebellaire ataxie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-agenesia do corpo caloso-dismorfia facial-ataxia cerebelosa | |
| pl | Zespół znacznejniepełnosprawności intelektualnej, agenezji ciała modzelowatego, dysmorfii twarzy i ataksji móżdżkowej | |
| cs | Syndrom těžké intelektové nedostatečnosti, ageneze corpus callosum, faciální dysmorfismus a cerebelární ataxie | |
| uk | Синдром тяжкої розумової відсталості-агенезії мозолистого тіла-дизморфізму обличчя- мозочкової атаксії | |
| zh | 严重智力障碍-胼胝体发育不良-面部畸形-小脑共济失调综合征 | |
| tr | Ağır zihinsel yetersizlik-korpus kallozum agenezisi-fasiyal dismorfizm-serebellar ataksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616819 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014787 | E | validated | |
| UMLS | C4225193 | 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 (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FRMD4A | Disease-causing germline mutation(s) in | Assessed | HGNC:25491 | ENSG00000151474 | 616305 | 10p13 | FERM domain containing 4A | 25388005[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 25388005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25388005[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
23 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000463 | Anteverted nares | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001007 | Hirsutism | |
| HP:0001276 | Hypertonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002509 | Limb hypertonia | |
| HP:0000527 | Long eyelashes | |
| HP:0000294 | Low anterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000341 | Narrow forehead | |
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| HP:0100540 | Palpebral edema | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011451 | Primary microcephaly | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000179 | Thick lower lip vermilion | |
| Occasional (29-5%) | ||
| HP:0002465 | Poor speech | |
Annotation source: 25388005[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466688
- This record as JSON: /data/d/466688.json