Oculotrichoanal syndrome
Synonyms: MOTA syndrome · Manitoba oculotrichoanal syndrome · Marles syndrome · Marles-Greenberg-Persaud syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculotrichoanal syndrome | MOTA syndrome · Manitoba oculotrichoanal syndrome · Marles syndrome · Marles-Greenberg-Persaud syndrome |
| fr | Syndrome oculo-tricho-anal | Syndrome MOTA · Syndrome de Marles |
| de | Okulo-tricho-anales Syndrom | MOTA-Syndrom · Manitoba-okulo-tricho-anales Symdrom · Marles-Greenberg-Persaud-Syndrom · Marles-Syndrom |
| es | Síndrome óculo-trico-anal | Síndrome MOTA · Síndrome de Marles · Síndrome de Marles-Greenberg-Persaud · Síndrome óculo-trico-anal de Manitoba |
| it | Sindrome oculo-trico-anale | Sindrome MOTA · Sindrome di Marles · Sindrome di Marles-Greenberg-Persaud · Sindrome oculo-trico-anale di Manitoba |
| nl | Oculo-tricho-anaal syndroom | Manitoba oculo-tricho-anaal syndroom |
| pt | Síndrome oculo-trico-anal | Síndrome Marles-Greenberg-Persaud |
| pl | Zespół oczno-włosowo-odbytowy | Zespół Marlesa · Zespół Marlesa, Greenberga i Persauda · Zespół MOTA · Zespół oczno-włosowo-odbytowy Manitoba |
| cs | Okulotrichoanální syndrom | MOTA syndrom · Manitobský okulotrichoanální syndrom · Marlesové syndrom · Marlesové-Greenbergové-Persaudův syndrom · Marles-Greenberg-Persaudův syndrom |
| uk | Окулотрихоанальний синдром | Манітобський окулотрихоанальний синдром · Синдром Марлеса · Синдром Марлеса-Грінберга-Персо · Синдром MOTA |
| zh | 眼毛发肛门综合征 | Marles-Greenberg-Persaud 综合征 |
| tr | Okülotrikanal sendrom | MOTA sendromu · Marles sendromu · Manitoba okulotrikoanal sendromu · Marles-Greenberg-Persaud sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248450 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009560 | E | validated | |
| MeSH | C536022 | E | validated | |
| UMLS | C1855425 | E | validated | |
| GARD | 3395 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FREM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23399 | ENSG00000164946 | 608944 | 9p22.3 | FRAS1 related extracellular matrix 1 | 20301721[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 20301721[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301721[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000316 | Hypertelorism | |
| HP:0000636 | Upper eyelid coloboma | |
| Frequent (79-30%) | ||
| HP:0002025 | Anal stenosis | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| Occasional (29-5%) | ||
| HP:0000528 | Anophthalmia | |
| HP:0000456 | Bifid nasal tip | |
| HP:0001126 | Cryptophthalmos | |
| HP:0000568 | Microphthalmia | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2717
- This record as JSON: /data/d/2717.json