Conditions / Skin
autosomal recessive cutis laxa type IA
info · Skin · ICD-10: Q82.8
An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Signs and symptoms
- Abnormal cutaneous elastic fiber morphology
- Cutis laxa
- Redundant skin
- Emphysema
- Recurrent respiratory infections
- Inguinal hernia
- Hypotonia
- Overgrowth
- Arachnodactyly
- Oligohydramnios
Also known as: ARCL1A