frontometaphyseal dysplasia 1

info · Genetic

A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.

Signs and symptoms

Downslanted palpebral fissures
Hypoplasia of the musculature
Prominent supraorbital ridges
Limited elbow movement
Interphalangeal joint contracture of finger
Camptodactyly of finger
Arachnodactyly
Absent frontal sinuses
Hearing impairment
Scoliosis

Also known as: FMD1