Acral dysostosis with facial and genital abnormalities
Acral Dysostosis with Facial and Genital Abnormalities Acral dysostosis with facial and genital abnormalities is a rare genetic disorder characterized by distinct malformations of the limbs, face, and genitalia. This condition is part of a group of disorders known as dysostoses, which involve abnormalities in the development of bone and cartilage.
Clinical Features[edit | edit source]
Individuals with acral dysostosis with facial and genital abnormalities typically present with a combination of the following features:
- Acral Dysostosis: This refers to malformations of the extremities, particularly the hands and feet. Patients may exhibit brachydactyly, which is the shortening of the fingers and toes, or other limb anomalies.
- Facial Abnormalities: Common facial features include a prominent forehead, hypertelorism (increased distance between the eyes), and a broad nasal bridge. These features can vary in severity among affected individuals.
- Genital Abnormalities: Genital malformations can include ambiguous genitalia or underdeveloped genital structures. These abnormalities may affect both males and females.
Genetic Basis[edit | edit source]
The genetic cause of acral dysostosis with facial and genital abnormalities is not fully understood, but it is believed to be inherited in an autosomal dominant pattern. This means that a single copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis[edit | edit source]
Diagnosis of this condition is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar dysostoses.
Management[edit | edit source]
Management of acral dysostosis with facial and genital abnormalities is symptomatic and supportive. Treatment may involve:
- Orthopedic Interventions: To address limb malformations and improve function.
- Surgical Correction: For genital abnormalities, if necessary.
- Genetic Counseling: To provide information and support to affected individuals and their families.
Prognosis[edit | edit source]
The prognosis for individuals with acral dysostosis with facial and genital abnormalities varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve quality of life.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Acral dysostosis with facial and genital abnormalities is a rare disease.
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Contributors: Prab R. Tumpati, MD
