Acromelic dysplasia

Acromelic dysplasia (Orphanet code 93436) is a group of rare skeletal disorders characterized by shortening of the distal segments of the limbs, particularly the hands and feet (acromelia). This category encompasses several distinct conditions including acromicric dysplasia, geleophysic dysplasia, and Weill-Marchesani syndrome, among others. These disorders share overlapping features of short stature with disproportionately short hands and feet, stiff joints, and thickened skin. The skeletal system is primarily affected, with characteristic radiographic findings including short metacarpals, metatarsals, and phalanges, as well as delayed bone age and cone-shaped epiphyses. Depending on the specific subtype, additional body systems may be involved. Cardiac and respiratory complications can occur, particularly in geleophysic dysplasia, where progressive cardiac valve disease and tracheal narrowing may be life-threatening. Ocular abnormalities such as lens subluxation (ectopia lentis) are prominent in Weill-Marchesani syndrome. Facial features may include a round face, short nose, and full lips. Several forms of acromelic dysplasia have been linked to mutations in genes involved in the fibrillin-ADAMTS-TGF-beta signaling pathway, including FBN1, ADAMTS10, ADAMTS17, and ADAMTSL2. There is currently no cure for acromelic dysplasia. Treatment is supportive and multidisciplinary, focusing on management of specific complications. This may include orthopedic interventions for skeletal abnormalities, cardiac monitoring and surgical valve replacement when needed, ophthalmologic care for lens abnormalities, and respiratory management. Regular follow-up with specialists in genetics, cardiology, orthopedics, and ophthalmology is recommended. Early recognition and monitoring of potentially serious cardiac and respiratory complications are essential for improving outcomes.

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