de Barsy syndrome
Findings
No curated finding names de Barsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Definition from the Mondo Disease Ontology (MONDO:0017569), read 2026-09-29. CC BY 4.0.
Features
65 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.
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- AthetosisHPOHP:0002305
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Congenital hip dislocationHPOHP:0001374
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Coxa varaHPOHP:0002812
- Very frequent (80% to 99% of cases)
- Cutis laxa
Show the remaining 53
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Dermal translucencyHPOHP:0010648
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: de Barsy syndrome
- Also called
- cutis laxa-corneal clouding-intellectual disability syndromeprogeroid syndrome, De Barsy type