Acrocraniofacial dysostosis

= Acrocraniofacial Dysostosis = Acrocraniofacial dysostosis is a rare genetic disorder characterized by distinctive malformations of the skull, face, and limbs. This condition is part of a group of disorders known as craniofacial dysostoses, which involve abnormalities in the development of the cranial and facial bones.

Signs and Symptoms

Individuals with acrocraniofacial dysostosis typically present with a variety of physical anomalies, which may include:

• Cranial Abnormalities: Premature fusion of certain skull bones (craniosynostosis) leading to an abnormal head shape.
• Facial Features: Underdeveloped midface, wide-set eyes (hypertelorism), and a beaked nose.
• Limb Anomalies: Malformations of the hands and feet, such as syndactyly (fusion of fingers or toes) or polydactyly (extra fingers or toes).

Causes

Acrocraniofacial dysostosis is typically caused by mutations in specific genes that are crucial for the development of bones and tissues in the skull and face. These genetic mutations can be inherited in an autosomal dominant or recessive pattern, depending on the specific type of dysostosis.

Diagnosis

Diagnosis of acrocraniofacial dysostosis is based on clinical evaluation, detailed patient history, and specialized imaging techniques such as X-rays or CT scans to assess the extent of cranial and facial abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Treatment

Treatment for acrocraniofacial dysostosis is often multidisciplinary, involving:

• Surgical Interventions: To correct craniosynostosis and other skeletal abnormalities.
• Orthodontic Treatment: To address dental issues resulting from facial malformations.
• Supportive Therapies: Including physical therapy and occupational therapy to improve functional outcomes.

Prognosis

The prognosis for individuals with acrocraniofacial dysostosis varies depending on the severity of the condition and the presence of associated complications. Early intervention and comprehensive management can improve quality of life and functional outcomes.

See Also

• Craniosynostosis
• Syndactyly
• Polydactyly

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Acrocraniofacial dysostosis

Acrocraniofacial dysostosis is a rare disease.