Acromicric dysplasia is a rare disorder.
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
To read more or access our algorithms and calculators, please log in or register.