Uruguay faciocardiomusculoskeletal syndrome

info · Syndrome

A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.

Signs and symptoms

Camptodactyly
Skeletal muscle hypertrophy
Hallux valgus
Pugilistic facies
Weak voice
Everted lower lip vermilion
Congenital hip dislocation
Retrognathia
Downslanted palpebral fissures
Thick eyebrow

Also known as: FCMSU