Short rib-polydactyly syndrome type 5 (SRP-5) 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 mutations in the IFT140 gene. Symptoms may include short stature, skeletal abnormalities, and respiratory problems. Treatment is supportive and may include physical therapy, orthopedic surgery, and respiratory support.

The symptoms of Short rib-polydactyly syndrome type 5 (SRP-5) 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 retardation
-Kidney abnormalities
-Liver abnormalities
-Skeletal abnormalities
-Cardiac defects
-Respiratory problems
-Hearing loss
-Vision problems
-Cleft lip or palate
-Gastrointestinal problems
-Genital abnormalities

Short rib-polydactyly syndrome type 5 is caused by mutations 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 abnormal cilia, which can cause the physical features associated with this syndrome.

Short rib-polydactyly syndrome type 5 is a rare genetic disorder, and there is currently no known cure. Treatment focuses on managing the symptoms and complications associated with the disorder. This may include physical therapy to help with mobility, occupational therapy to help with daily activities, and speech therapy to help with communication. Surgery may be necessary to correct any physical deformities or to help with breathing difficulties. In some cases, medications may be prescribed to help with pain or other symptoms. Genetic counseling may also be recommended to help families understand the disorder and its implications.

1. Autosomal recessive inheritance: Short rib-polydactyly syndrome type 5 is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

2. Mutation in the IFT140 gene: Short rib-polydactyly syndrome type 5 is caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the development of cilia, which are tiny, finger-like projections that line the surface of some cells.

3. Family history: A family history of Short rib-polydactyly syndrome type 5 increases the risk of having

At this time, there is no known cure or medications for Short rib-polydactyly syndrome type 5. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and other supportive care.