Chondrodysplasia punctata, brachytelephalangic

Chondrodysplasia punctata, brachytelephalangic
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Chondrodysplasia punctata, brachytelephalangic is a rare genetic disorder characterized by specific skeletal abnormalities, including stippled calcifications in the cartilage (chondrodysplasia punctata) and shortened distal phalanges (brachytelephalangy). This condition is one of several types of chondrodysplasia punctata, each with distinct genetic causes and clinical features.

Clinical Features

Individuals with chondrodysplasia punctata, brachytelephalangic typically present with:

• Stippled epiphyses: This refers to the presence of small, dot-like calcifications in the cartilage, particularly noticeable in infancy.
• Brachytelephalangy: Shortening of the distal phalanges of the fingers and toes.
• Facial dysmorphism: Some individuals may have distinctive facial features, although these are less pronounced than in other forms of chondrodysplasia punctata.
• Growth retardation: Mild to moderate short stature may be observed.

Genetics

Chondrodysplasia punctata, brachytelephalangic is often inherited in an X-linked recessive manner, although autosomal dominant and autosomal recessive forms have also been reported. The X-linked form is associated with mutations in the ARSE gene, which encodes the enzyme arylsulfatase E. This enzyme is involved in the metabolism of certain sulfated molecules, and its deficiency leads to the accumulation of these molecules, affecting cartilage development.

Diagnosis

Diagnosis is typically based on clinical evaluation, radiographic findings, and genetic testing. Radiographs reveal the characteristic stippled calcifications and shortened distal phalanges. Genetic testing can confirm mutations in the ARSE gene or other associated genes.

Management

There is no cure for chondrodysplasia punctata, brachytelephalangic, and treatment is primarily supportive. Management may include:

• Orthopedic interventions: To address skeletal abnormalities and improve mobility.
• Physical therapy: To enhance motor skills and muscle strength.
• Regular monitoring: To assess growth and development, and to manage any complications.

Prognosis

The prognosis for individuals with chondrodysplasia punctata, brachytelephalangic varies depending on the severity of the condition and associated complications. Many individuals lead relatively normal lives with appropriate medical care and support.

Also see

• Chondrodysplasia punctata
• X-linked recessive inheritance
• Skeletal dysplasia
• Genetic disorders