Short rib-polydactyly syndrome, Saldino-Noonan type (SRPSN) is a rare genetic disorder characterized by the presence of extra fingers and toes (polydactyly), short ribs, and other skeletal abnormalities. It is caused by a mutation in the gene encoding the transcription factor TBX6. Symptoms may include short stature, facial abnormalities, and respiratory problems. Treatment is supportive and may include physical therapy, orthopedic surgery, and respiratory support.

The symptoms of Short rib-polydactyly syndrome, Saldino-Noonan type include:

-Abnormalities of the ribs, including short ribs and extra ribs
-Polydactyly (extra fingers and/or toes)
-Cleft lip and/or palate
-Abnormalities of the face, including a flat midface, low-set ears, and a small jaw
-Abnormalities of the heart, including ventricular septal defect, atrial septal defect, and patent ductus arteriosus
-Abnormalities of the kidneys, including cystic kidneys and horseshoe kidneys
-Abnormalities of the spine, including Scoliosis and kyphosis
-Abnormalities of the arms and legs, including short limbs and extra digits
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Short rib-polydactyly syndrome, Saldino-Noonan type is caused by a mutation in the gene encoding the transcription factor TBX6. This gene is responsible for the development of the ribs and limbs. The mutation causes the ribs to be shorter than normal and can also cause extra fingers and toes (polydactyly).

There is no known cure for Short rib-polydactyly syndrome, Saldino-Noonan type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include:

• Surgery to correct any skeletal abnormalities

• Physical therapy to help with mobility and strength

• Occupational therapy to help with daily activities

• Speech therapy to help with communication

• Nutritional counseling to ensure proper nutrition

• Genetic counseling to help families understand the condition and its implications

• Psychological counseling to help with the emotional impact of the condition

• Regular monitoring of organ function and growth

1. Genetic mutation: The most common cause of Saldino-Noonan Syndrome is a mutation in the GPC3 gene.

2. Family history: Individuals with a family history of Saldino-Noonan Syndrome are at an increased risk of developing the condition.

3. Ethnicity: Saldino-Noonan Syndrome is more common in individuals of Asian descent.

4. Age: Saldino-Noonan Syndrome is more likely to occur in infants and young children.

At this time, there is no known cure or medications for Short rib-polydactyly syndrome, Saldino-Noonan type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include surgery to correct any skeletal abnormalities, physical therapy to help with mobility, and medications to manage pain and other symptoms.