ORPHA:397709
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Synonyms: SNX14-related autosomal recessive spinocerebellar ataxia · Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome · SCAR20
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | SNX14-related autosomal recessive spinocerebellar ataxia · Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome · SCAR20 |
| fr | Syndrome de déficience intellectuelle-traits grossiers du visage-macrocéphalie-hypotrophie cérébelleuse | Ataxie spinocérébelleuse autosomique récessive associée à SNX14 · Ataxie spinocérébelleuse autosomique récessive type 20 · SCAR20 · Syndrome de déficience intellectuelle-traits grossiers du visage-macrocéphalie-hypoplasie cérébelleuse |
| de | Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom | SNX14-assoziierte autosomal-rezessive spinozerebelläre Ataxie · Ataxie, spinozerebelläre, autosomal-rezessive, Typ 20 · SCAR20 |
| es | Síndrome de discapacidad intelectual-cara tosca-macrocefalia-hipotrofia cerebelosa | Ataxia espinocerebelosa autosómica recesiva asociada al gen SNX14 · Ataxia espinocerebelosa autosómica recesiva tipo 20 · SCAR20 · Síndrome de discapacidad intelectual-cara tosca-macrocefalia-hipoplasia cerebelosa |
| it | Sindrome disabilità intellettiva-aspetto grossolano del viso-macrocefalia-ipotrofia cerebellare | Atassia spinocerebellare autosomica recessiva correlata a SNX14 · SCAR20 · Sindrome deficit cognitivo-faccia grossolana-macrocefalia-ipoplasia cerebellare · Atassia spinocerebellare autosomica recessiva tipo 20 |
| nl | Intellectuele achterstand - grof aangezicht - macrocefalie - cerebellaire hypotrofie-syndroom | SNX14-gerelateerde autosomaal recessieve spinocerebellaire ataxie · Autosomaal recessieve spinocerebellaire ataxie type 20 · Intellectuele achterstand - grof gelaat - macrocefalie - cerebellaire hypoplasie-syndroom · SCAR20 |
| pt | Síndrome de perturbação do desenvolvimento intelectual-facies grosseira-macrocefalia-hipotrofia cerebelosa | Ataxia espinocerebelosa tipo 20 autossómica recessiva · SCAR20 · Síndrome de perturbação do desenvolvimento intelectual-facies grosseira-macrocefalia-hipoplasia cerebelosa |
| pl | Zespół niepełnosprawności intelektualnej, grubych rysów twarzy, wielkogłowia i hipotrofii móżdżku | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 20 · SCAR20 |
| cs | Syndrom zahrnující mentální retardaci, hrubé rysy tváře, makrocefalii a cerebelární hypotrofii | Syndrom zahrnující mentální retardaci, hrubé rysy, makrocefalii a cerebelární hypoplázii · SCAR20 · Autozomálně recesivní spinocerebelární ataxie, typ 20 |
| uk | Синдром інтелектуальної недостатності-грубого обличчя-макроцефалії-гіпотрофії мозочка | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 20 · Синдром інтелектуальної недостатності - грубого обличчя - макроцефалії - гіпоплазії мозочка · SCAR20 |
| zh | 智力障碍-粗糙面容-巨头-小脑萎缩综合征 | 常染色体隐性遗传性脊髓小脑共济失调20型 |
| tr | Zihinsel yetersizlik-kaba yüz-makrosefali-serebellar hipotrofi sendromu | Zihinsel yetersizlik-kaba yüz-makrosefali-serebellar hipoplazi sendromu · SCAR20 · Otozomal çekinik spinoserebellar ataksi tip 20 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616354 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014601 | E | validated | |
| UMLS | C5190595 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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: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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SNX14 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14977 | ENSG00000135317 | 616105 | 6q14.3 | sorting nexin 14 | 25439728[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27913285[PMID] |
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 27913285[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.
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HPO phenotypes
54 annotations · validated 2019-12-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000280 | Coarse facial features | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0002136 | Broad-based gait | |
| HP:0002007 | Frontal bossing | |
| HP:0001252 | Hypotonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000158 | Macroglossia | |
| HP:0000639 | Nystagmus | |
| HP:0100540 | Palpebral edema | |
| HP:0004482 | Relative macrocephaly | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002186 | Apraxia | |
| HP:0001631 | Atrial septal defect | |
| HP:0003487 | Babinski sign | |
| HP:0001156 | Brachydactyly | |
| HP:0000289 | Broad philtrum | |
| HP:0012385 | Camptodactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0002002 | Deep philtrum | |
| HP:0000678 | Dental crowding | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002219 | Facial hypertrichosis | |
| HP:0000293 | Full cheeks | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0001265 | Hyporeflexia | |
| HP:0000343 | Long philtrum | |
| HP:0010471 | Oligosacchariduria | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000768 | Pectus carinatum | |
| HP:0000307 | Pointed chin | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0001250 | Seizure | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000350 | Small forehead | |
| HP:0001257 | Spasticity | |
| HP:0008443 | Spinal deformities | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| HP:0012471 | Thick vermilion border | |
| HP:0002684 | Thickened calvaria | |
| HP:0012810 | Wide nasal base | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 27913285[PMID]_25848753[PMID]_25439728[PMID]_24501761[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397709
- This record as JSON: /data/d/397709.json