ALDH18A1-related De Barsy syndrome
ORPHA:35664· ICD-10 Q87.8
Definition
A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal