Short rib-polydactyly syndrome, Majewski type (SRPSM) is a rare genetic disorder characterized by skeletal abnormalities, including short ribs, extra fingers and toes (polydactyly), and a narrow chest. It is caused by a mutation in the gene encoding the transcription factor TBX6. Symptoms may also include facial abnormalities, heart defects, and kidney problems. Treatment is based on the individual's symptoms and may include surgery to correct skeletal abnormalities, medications to treat heart defects, and physical therapy to improve mobility.

The symptoms of Short rib-polydactyly syndrome, Majewski type (SRPSM) vary from person to person, but may include:

-Short ribs
-Polydactyly (extra fingers or toes)
-Abnormal chest shape
-Abnormal facial features
-Developmental delay
-Intellectual disability
-Feeding difficulties
-Growth delays
-Kidney abnormalities
-Liver abnormalities
-Heart defects
-Skeletal abnormalities
-Hearing loss
-Vision problems
-Cleft lip or palate
-Gastrointestinal problems
-Urogenital abnormalities

Short rib-polydactyly syndrome, Majewski type is caused by a mutation in the IFT140 gene. This gene is responsible for the production of a protein that is involved in the development of cilia, which are small, hair-like structures that help cells move and communicate with each other. Mutations in this gene can lead to the development of the characteristic features of this syndrome, including short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities.

The treatments for Short rib-polydactyly syndrome, Majewski type vary depending on the severity of the condition and the individual patient. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include surgery to correct skeletal abnormalities, physical therapy to improve mobility, and medications to manage pain and other symptoms. In some cases, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation: Short rib-polydactyly syndrome, Majewski type is caused by a mutation in the DYNC2H1 gene.

2. Family history: Individuals with a family history of Short rib-polydactyly syndrome, Majewski type are at an increased risk of developing the condition.

3. Ethnicity: Short rib-polydactyly syndrome, Majewski type is more common in individuals of Ashkenazi Jewish descent.

4. Gender: Short rib-polydactyly syndrome, Majewski type is more common in males than females.

At this time, there is no known cure or medications for Short rib-polydactyly syndrome, Majewski 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.