About Robin sequence-oligodactyly syndrome

What is Robin sequence-oligodactyly syndrome?

Robin sequence-oligodactyly syndrome is a rare genetic disorder characterized by a cleft palate, a small lower jaw, and fewer than the normal number of fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor 8 (FGF8). Symptoms may include feeding difficulties, speech delays, and hearing loss. Treatment typically involves surgery to correct the cleft palate and jaw, as well as speech and language therapy.

What are the symptoms of Robin sequence-oligodactyly syndrome?

The symptoms of Robin sequence-oligodactyly syndrome include:

-Cleft lip and/or palate
-Underdeveloped or absent nasal bridge
-Underdeveloped or absent maxilla
-Underdeveloped or absent mandible
-Underdeveloped or absent ears
-Underdeveloped or absent eyelids
-Underdeveloped or absent eyebrows
-Underdeveloped or absent nose
-Underdeveloped or absent philtrum
-Underdeveloped or absent chin
-Underdeveloped or absent teeth
-Underdeveloped or absent tongue
-Underdeveloped or absent lips
-Underdeveloped or absent jaw
-Underdeveloped or absent facial muscles
-Underdeveloped or absent facial nerve
-Underdeveloped or absent facial bones
-Underdeveloped or absent facial cartilage
-Underdeveloped or absent facial soft tissue
-Underdeveloped or absent facial fat
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What are the causes of Robin sequence-oligodactyly syndrome?

Robin sequence-oligodactyly syndrome is caused by a genetic mutation in the TBX22 gene. This gene is responsible for the development of the face, jaw, and tongue. The mutation can be inherited from a parent or can occur spontaneously.

What are the treatments for Robin sequence-oligodactyly syndrome?

1. Speech therapy: Speech therapy can help improve the ability to communicate and swallow.

2. Physical therapy: Physical therapy can help improve muscle strength and coordination.

3. Surgery: Surgery may be necessary to correct facial deformities, such as cleft lip and palate.

4. Orthodontic treatment: Orthodontic treatment can help improve the alignment of the teeth and jaw.

5. Occupational therapy: Occupational therapy can help improve fine motor skills and daily living activities.

6. Genetic counseling: Genetic counseling can help families understand the condition and the risks associated with it.

What are the risk factors for Robin sequence-oligodactyly syndrome?

1. Maternal diabetes
2. Maternal smoking
3. Maternal alcohol consumption
4. Maternal age over 35
5. Maternal obesity
6. Maternal use of certain medications
7. Family history of Robin sequence-oligodactyly syndrome
8. Genetic mutations in certain genes, such as FOXF1, TBX4, and MSX2

Is there a cure/medications for Robin sequence-oligodactyly syndrome?

There is no cure for Robin sequence-oligodactyly syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. Treatment may include speech therapy, physical therapy, occupational therapy, orthodontic treatment, and surgery. Medications may be prescribed to help manage associated conditions such as sleep apnea or gastroesophageal reflux.