Ascher syndrome
Findings
No curated finding names Ascher syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0007198), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormal eyelid morphologyHPOHP:0000492
- Very frequent (80% to 99% of cases)
- Abnormal upper lip morphologyHPOHP:0000177
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Upper eyelid edemaHPOHP:0012724
- Very frequent (80% to 99% of cases)
- GoiterHPOHP:0000853
- Frequent (30% to 79% of cases)
- HypothyroidismHPOHP:0000821
- Frequent (30% to 79% of cases)
- Ptosis
Where it sits
Other names
2 names
Resolves to: Ascher syndrome
- Also called
- blepharochalasis and Double type lipblepharochalasis-double lip syndrome