Autosomal recessive chorioretinopathy-microcephaly syndrome
Synonyms: Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive chorioretinopathy-microcephaly syndrome | Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome |
| fr | Syndrome de choriorétinopathie-microcéphalie autosomique récessive | Syndrome de choriorétinopathie-microcéphalie-déficience intellectuelle autosomique récessive |
| de | Autosomal-rezessive Mikrozephalie mit Chorioretinopathie | Autosomal-rezessive Chorioretinopathie-Mikrozephalie-Intelligenzminderung-Syndrom |
| es | Síndrome de coriorretinopatía-microcefalia autosómico recesivo | Síndrome de coriorretinopatía-microcefalia-discapacidad intelectual autosómico recesivo |
| it | Sindrome corioretinopatia e microcefalia autosomica recessiva | Sindrome corioretinopatia-microcefalia-disabilità intellettiva autosomica recessiva |
| nl | Autosomaal recessief chorioretinopathie - microcefalie-syndroom | Autosomaal recessief chorioretinopathie - microcefalie - intellectuele achterstand-syndroom |
| pt | Síndrome de coriorretinopatia-microcefalia autossómica recessiva | Síndrome pseudo-toxoplasmose |
| pl | Autosomalnie recesywna chorioretinopatia - małogłowie | Zespół toksoplazmozy rzekomej |
| cs | Syndrom zahrnující autozomálně recesivní chorioretinopatii a mikrocefalii | Syndrom pseudotoxoplazmózy |
| uk | Аутосомно-рецесивний синдром хоріоретинопатії-мікроцефалії | Аутосомно-рецесивний синдром хоріоретинопатії-мікроцефалії-інтелектуальної недостатності |
| zh | 常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征 | 常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征 |
| tr | Otozomal resesif korioretinopati-mikrosefali sendromu | Otozomal çekinik koriyoretinopati-mikrosefali-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251270 | BTNT | validated | |
| OMIM | 616171 | BTNT | validated | |
| OMIM | 616335 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9B61 | NTBT | index | validated |
| UMLS | C4749272 | 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 (3):
- 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:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11397 | ENSG00000142731 | 605031 | 4q28.1 | polo like kinase 4 | 27650967[PMID] |
| TUBGCP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16691 | ENSG00000137822 | 609610 | 15q15.3 | tubulin gamma complex component 4 | 25817018[PMID] |
| TUBGCP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:18127 | ENSG00000128159 | 610053 | 22q13.33 | tubulin gamma complex component 6 | 22279524[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000463 | Anteverted nares | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0004422 | Biparietal narrowing | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2518
- This record as JSON: /data/d/2518.json