ORPHA:495875
Cerebello-oculo-facio-genital syndrome
Synonyms: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome · COFG syndrome · Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebello-oculo-facio-genital syndrome | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome · COFG syndrome · Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
| fr | Syndrome cérébello-oculo-facio-génital | Syndrome d'agénésie congénitale du scrotum ou grandes lèvres-malformation cérébelleuse-dystrophie cornéenne-dysmorphie faciale · Syndrome COFG |
| de | Zerebro-okulo-fazio-genitales Syndrom | COFG-Syndrom · Kongenitale labioskrotale Agenesie-zerebelläre Fehlbildung-Hornhautdystrophie-Gesichtsdysmorphie-Syndrom · Kongenitale Agenesie der Labia majora oder des Scrotums-zerebelläre Fehlbildung-Hornhautdystrophie-Gesichtsdysmorphie-Syndrom |
| es | Síndrome cerebelo-óculo-facio-genital | Síndrome COFG · Síndrome congénito de agenesia labioescrotal-malformación cerebelosa-distrofia corneal-dismorfia facial · Síndrome congénito de agenesia de labios mayores o escroto-malformación cerebelosa-distrofia corneal-dismorfia facial |
| it | Sindrome cerebellare-oculo-facio-genitale | Sindrome agenesia labioscrotale congenita - malformazioni cerebellari - distrofia della cornea - dismorfismi faciali · Sindrome COFG · Sindrome agenesia congenita delle grandi labbra o dello scroto-malformazione cerebellare-distrofia corneale-dismorfismi facciali |
| nl | Cerebello-oculofaciogenitaal syndroom | COFG-syndroom · Congenitaal agenesie van labia majora of scrotum - cerebellaire malformatie - corneadystrofie - faciale dysmorfie-syndroom · Congenitaal labioscrotale agenesie - malformatie van cerebellum - corneadystrofie - faciale dysmorfie-syndroom |
| pt | Síndrome de agenesia labioescrotal congénita-malformação cerebelosa-distrofia córnea-dismorfia facial | Síndrome de agenesia dos grandes lábios ou escroto congénita-malformação cerebelosa-distrofia córnea-dismorfia facial |
| pl | Zespół wrodzonej agenezji fałdu wargowomosznowego-malformacji móżdżku-dystrofii rogówki-dysmorfii twarzy | = en |
| cs | Syndrom zahrnující labioskrotální agenezi, malformace mozečku, korneální dystrofii a faciální dysmorfismus | Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome · Syndrom zahrnující vrozenou agenezi velkých stydkých pysků nebo šourku, mozečkovou malformaci, rohovkovou dystrofii a obličejový dysmorfismus |
| uk | Синдром вродженої лабіоскротальної агенезії-мальформації мозочка-дистрофії рогівки- дизморфізму обличчя | Синдром вродженого агенезу великих статевих губ або мошонки - мозочкової мальформації - дистрофії рогівки - дизморфізму обличчя |
| zh | 先天性阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征 | 先天性大阴唇或阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征 |
| tr | Doğumsal labioskrotal agenezis-serebellar malformasyon-korneal distrofi-fasiyal dismorfizm sendromu | Doğumsal agenezis labia majora veya skrotum-serebellar malformasyon-korneal distrofi-fasiyal dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618479 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044643 | E | validated | |
| UMLS | C5567455 | 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 (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: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:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAB21L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6757 | ENSG00000180660 | 601280 | 13q13.3 | mab-21 like 1 | 30487245[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27075597[PMID]_27103078[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27075597[PMID]_27103078[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
52 annotations · validated 2020-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008729 | Absence of labia majora | |
| HP:0008707 | Absent scrotum | |
| HP:0011229 | Broad eyebrow | |
| HP:0000280 | Coarse facial features | |
| HP:0001131 | Corneal dystrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000294 | Low anterior hairline | |
| HP:0000350 | Small forehead | |
| HP:0045075 | Sparse eyebrow | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000463 | Anteverted nares | |
| HP:0002136 | Broad-based gait | |
| HP:0000557 | Buphthalmos | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001007 | Hirsutism | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0000047 | Hypospadias | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0002465 | Poor speech | |
| HP:0002172 | Postural instability | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0011825 | Tented philtrum | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000455 | Broad nasal tip | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0000527 | Long eyelashes | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000107 | Renal cyst | |
| HP:0002000 | Short columella | |
| HP:0000470 | Short neck | |
| HP:0001350 | Slurred speech | |
| HP:0025405 | Visual fixation instability | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 27103078[PMID]_30487245[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/495875
- This record as JSON: /data/d/495875.json