ORPHA:500159
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome | |
| fr | Syndrome de microcéphalie-hypoplasie du corps calleux et vermis cérébelleux-dysmorphie faciale-déficience intellectuelle | |
| de | Mikrozephalie-Corpus callosum- und zerebelläre Vermishypoplasie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom | |
| es | Síndrome de microcefalia-hipoplasia del cuerpo calloso y del vérmix cerebeloso-dismorfia facial-discapacidad intelectual | |
| it | Sindrome microcefalia-ipoplasia del corpo calloso e del verme cerebellare-dismorfismi facciali-disabilità intellettiva | |
| nl | Microcefalie - hypoplasie van corpus callosum en vermis cerebelli - faciale dysmorfie - intellectuele achterstand-syndroom | |
| pt | Síndrome de microcefalia-hipoplasia do corpo caloso e do vermis cerebeloso-dismorfia facial-perturbação do desenvolvimento intelectual | |
| pl | Zespół małogłowia, hipoplazji ciała modzelowatego i robaka móżdżku, dysmorfii twarzy i niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující mikrocefalii, hypoplázii corpus callosum a mozečku, faciální dysmorfismus a mentální retardaci | |
| uk | Синдром мікроцефалії-гіпоплазії мозолистого тіла та червяка мозочка-дисморфізму обличчя-інтелектуальної недостатності | |
| zh | 小头畸形-胼胝体和小脑发育不良-面部畸形-智力障碍 | |
| tr | Mikrosefali-korpus kallozum ve serebellar vermis hipoplazisi-fasiyal dismorfizm-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617751 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0030913 | E | validated | |
| UMLS | C4540321 | 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 (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:199639Syndrome with corpus callosum agenesis/dysgenesis 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 |
|---|---|---|---|---|---|---|---|---|
| RAC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9801 | ENSG00000136238 | 602048 | 7p22.1 | Rac family small GTPase 1 | 28886345[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 28886345[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28886345[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
50 annotations · validated 2019-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001344 | Absent speech | |
| HP:0000708 | Atypical behavior | |
| HP:0011968 | Feeding difficulties | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0200007 | Abnormal size of the palpebral fissures | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0003086 | Acromesomelia | |
| HP:0000463 | Anteverted nares | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0001382 | Joint hypermobility | |
| HP:0009765 | Low hanging columella | |
| HP:0000256 | Macrocephaly | |
| HP:0030515 | Moderately reduced visual acuity | |
| HP:0000194 | Open mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001357 | Plagiocephaly | |
| HP:0002126 | Polymicrogyria | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009237 | Short 5th finger | |
| HP:0002786 | Tracheobronchomalacia | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28886345[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500159
- This record as JSON: /data/d/500159.json