What is Acromicric Dysplasia

Acromicric Dysplasia is a rare genetic disorder that affects bone and cartilage development. It is characterized by distinctive facial features, short stature, and skeletal abnormalities. Individuals with Acromicric Dysplasia typically have a normal lifespan and intelligence.

Facial features: People with Acromicric Dysplasia may have a round face, a small nose, a prominent forehead, and a wide mouth. Their eyes may appear widely spaced, and they may have thick eyebrows.

Short stature: Individuals with this condition tend to be shorter than average. Their growth may be delayed, and they may have short fingers and toes.

Skeletal abnormalities: Acromicric Dysplasia can cause various skeletal abnormalities, such as shortened bones in the hands and feet, limited joint movement, and a thickened skull base.

Acromicric Dysplasia is caused by mutations in the ACAN gene, which provides instructions for producing a protein called aggrecan. Aggrecan is essential for the normal development of cartilage and bone.

Diagnosis of Acromicric Dysplasia is typically based on clinical features, X-rays, and genetic testing. Treatment focuses on managing the symptoms and may involve physical therapy, orthopedic interventions, and regular monitoring of growth and development.