autosomal recessive cutis laxa type IC

info · Skin

A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.

Signs and symptoms

Hypertelorism
Joint hypermobility
Multiple bladder diverticula
Long philtrum
Cutis laxa
Wide nasal bridge
Emphysema
Growth delay
Hypotonia
Feeding difficulties

Also known as: ARCL1C; autosomal recessive cutis laxa type 1C