facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Findings
No curated finding names facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
Definition from the Mondo Disease Ontology (MONDO:0011106), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
31 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.
- Dental malocclusionHPOHP:0000689
- 12 of 12 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 13 of 13 reported patients
- Ectopia lentisHPOHP:0001083
- 15 of 15 reported patients
- Lens subluxationHPOHP:0001132
- 2 of 2 reported patients
- Malar flatteningHPOHP:0000272
- 7 of 7 reported patients
- Prominent nasal bridgeHPOHP:0000426
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.
- ASPHHGNC:757
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
- Also called
- facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndromeFDLAB syndromeTraboulsi syndrome