ankyloblepharon filiforme-imperforate anus syndrome
Findings
No curated finding names ankyloblepharon filiforme-imperforate anus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Definition from the Mondo Disease Ontology (MONDO:0015201), read 2026-09-29. CC BY 4.0.
Features
5 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.
- AnkyloblepharonHPOHP:0009755
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Tooth agenesisHPOHP:0009804
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ankyloblepharon filiforme-imperforate anus syndrome
- Also called
- Aughton-Hufnagle syndrome