Disease - Cutis laxa, autosomal recessive, 3A
Definition
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Acronym
ARCL3A
Synonyms
Cutis laxa autosomal recessive type IIIA
Cutis laxa corneal clouding and mental retardation
De Barsy syndrome
De Barsy syndrome A
Developmental delay-choreoathetosis-joint dislocation-lax skin
Mental retardation joint hypermobility and skin laxity with or without metabolic abnormalities
Neurocutaneous syndrome Bicknell type
Progeroid syndrome of De Barsy
Cutis laxa corneal clouding and mental retardation
De Barsy syndrome
De Barsy syndrome A
Developmental delay-choreoathetosis-joint dislocation-lax skin
Mental retardation joint hypermobility and skin laxity with or without metabolic abnormalities
Neurocutaneous syndrome Bicknell type
Progeroid syndrome of De Barsy
Keywords
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
