Clinical Features of Acromicric Dysplasia

 

Chromosome: 15q21.1

Gene affected: FBN1 (product fibrillin-1)

 

Inheritance: autosomal dominant

 

Clinical features of acromicric dysplasia:

(1) short stature

(2) short hands and feet

(3) normal intelligence

(4) mild facial dysmorphism (narrow palpebral fissures; short, stubby nose; anteverted nostrils)

(5) hoarse voice

(6) stiff joints

(7) radiographic abnormalities of the hands (metacarpals and phalanges are short and stubby; proximal portion of metacarpals II to V are slightly pointed; internal notch on the fifth metacarpal)

(8) internal notch of the femoral head