ORPHA:2962
De Barsy syndrome
Also called Cutis laxa-corneal clouding-intellectual disability syndrome, Progeroid syndrome, De Barsy type
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2962 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Hypernasal speech
- Talipes equinovarus
- Premature rupture of membranes
- Talipes calcaneovalgus
- Athetosis
- Wormian bones