frontometaphyseal dysplasia 2

info · Genetic

A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.

Signs and symptoms

Hypertelorism
Dislocated radial head
Elbow contracture
Prominent supraorbital ridges
Wide nasal bridge
Sensorineural hearing impairment
Broad thumb
Flared metaphysis
Downslanted palpebral fissures
Scoliosis

Also known as: FMD2