Acrofacial dysostosis Preis type
= Acrofacial Dysostosis, Preis Type =
Acrofacial Dysostosis, Preis Type, is a rare genetic disorder characterized by distinctive craniofacial malformations and limb abnormalities. It is one of several types of acrofacial dysostosis, a group of disorders that affect the development of the face and limbs.
Clinical Features[edit | edit source]
Individuals with Acrofacial Dysostosis, Preis Type, typically present with a combination of craniofacial and limb anomalies. Common features include:
- Craniofacial Anomalies: These may include micrognathia (a small jaw), cleft palate, and malar hypoplasia (underdeveloped cheekbones).
- Limb Abnormalities: Limb defects can vary but often include preaxial polydactyly (extra fingers or toes on the thumb side) and syndactyly (fusion of fingers or toes).
- Other Features: Some individuals may have hearing loss, dental anomalies, and intellectual disability.
Genetics[edit | edit source]
Acrofacial Dysostosis, Preis Type, is believed to be inherited in an autosomal dominant manner, although the exact genetic cause has not been fully elucidated. Research is ongoing to identify the specific genetic mutations responsible for this condition.
Diagnosis[edit | edit source]
Diagnosis of Acrofacial Dysostosis, Preis Type, is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and differentiate it from other types of acrofacial dysostosis.
Management[edit | edit source]
Management of Acrofacial Dysostosis, Preis Type, is typically supportive and symptomatic. It may involve:
- Surgical Interventions: To correct craniofacial and limb anomalies, such as cleft palate repair and reconstructive surgery for limb defects.
- Hearing Aids: For individuals with hearing loss.
- Speech Therapy: To address speech and language difficulties, particularly in those with cleft palate.
- Educational Support: For individuals with intellectual disabilities.
Prognosis[edit | edit source]
The prognosis for individuals with Acrofacial Dysostosis, Preis Type, varies depending on the severity of the anomalies and the presence of associated complications. Early intervention and supportive care can improve quality of life and functional outcomes.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic basis of Acrofacial Dysostosis, Preis Type, and to develop targeted therapies. Advances in genetic testing and molecular biology may lead to improved diagnostic and treatment options in the future.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Acrofacial dysostosis Preis type is a rare disease.
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Contributors: Prab R. Tumpati, MD
