oculotrichoanal syndrome
MONDO:0009560Mondo
Findings
No curated finding names oculotrichoanal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bifid nasal tipHPOHP:0000456
- 9 of 10 reported patients
- Occasional (5% to 29% of cases)
- Abnormal hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 4 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Upper eyelid colobomaHPOHP:0000636
- Very frequent (80% to 99% of cases)
- Abnormality of the hairlineHPOHP:0009553
- 7 of 9 reported patients
- Anal stenosisHPOHP:0002025
- 2 of 10 reported patients
- Frequent (30% to 79% of cases)
- Anteriorly placed anusHPOHP:0001545
- 2 of 10 reported patients
- Frequent (30% to 79% of cases)
- Nasolacrimal duct obstructionHPOHP:0000579
- Frequent (30% to 79% of cases)
- Eyelid colobomaHPOHP:0000625
- 4 of 10 reported patients
- AnophthalmiaHPOHP:0000528
- 1 of 10 reported patients
- Occasional (5% to 29% of cases)
- CryptophthalmosHPOHP:0001126
- 1 of 10 reported patients
- Occasional (5% to 29% of cases)
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases)
Show the remaining 4
- Broad nasal tipHPOHP:0000455
- 3 of 10 reported patients
- OmphaloceleHPOHP:0001539
- 3 of 10 reported patients
- Vaginal atresiaHPOHP:0000148
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FREM1HGNC:23399
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: oculotrichoanal syndrome
- Also called
- Manitoba oculotrichoanal syndromeMarles syndromeMarles-Greenberg-Persaud syndromeMOTA syndrome