acromesomelic dysplasia 3

info · Genetic

An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.

Signs and symptoms

Brachydactyly
Short femoral neck
Short 1st metacarpal
Hypergonadotropic hypogonadism
Elevated circulating follicle stimulating hormone level
Disproportionate short-limb short stature
Radial deviation of finger
Broad foot
Carpal synostosis
Short phalanx of finger

Also known as: Demirhan-type acromesomelic dysplasia