Acrofacial dysostosis, Catania type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein filamin B. Symptoms may include a small head, wide-set eyes, a flat nasal bridge, a cleft lip and/or palate, and malformed ears. Other features may include short stature, joint contractures, and intellectual disability. Treatment is supportive and may include physical and occupational therapy, speech therapy, and orthopedic surgery.

The symptoms of Acrofacial dysostosis, Catania type include:

-Cleft lip and/or palate
-Abnormalities of the ears, including small, Low-set ears and/or hearing loss
-Abnormalities of the eyes, including small eyes, strabismus, and/or cataracts
-Abnormalities of the nose, including a flattened bridge and/or a broad nasal tip
-Abnormalities of the teeth, including missing teeth and/or malformed teeth
-Abnormalities of the hands and feet, including short fingers and/or toes, and/or webbing between the fingers and toes
-Abnormalities of the skull, including a Small head size and/or a prominent forehead
-Abnormalities of the face, including a broad, flat face and

Acrofacial dysostosis, Catania type is a rare genetic disorder caused by mutations in the gene encoding the protein filamin A (FLNA). Mutations in this gene can lead to a wide range of physical and developmental abnormalities, including facial dysmorphism, skeletal malformations, and intellectual disability. Other causes of Acrofacial dysostosis, Catania type may include environmental factors, such as exposure to certain toxins or medications, or a combination of genetic and environmental factors.

The treatments for Acrofacial dysostosis, Catania type vary depending on the severity of the condition and the individual's symptoms. Generally, treatment focuses on managing the physical and developmental issues associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and orthodontic treatment. Surgery may be necessary to correct facial deformities, such as cleft lip and palate. In some cases, hearing aids may be needed to improve hearing. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation in the PORCN gene.
2. Family history of Acrofacial dysostosis, Catania type.
3. Maternal exposure to certain medications or environmental toxins during pregnancy.
4. Maternal diabetes or obesity.
5. Maternal age over 35.

At this time, there is no known cure for Acrofacial dysostosis, Catania type. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, orthodontic treatment, and surgery. Additionally, medications such as anticonvulsants, muscle relaxants, and anti-inflammatory drugs may be prescribed to help manage the symptoms.