Short rib-polydactyly syndrome, Verma-Naumoff type (SRPSVN) 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, Verma-Naumoff type include:

-Short ribs
-Polydactyly (extra fingers or toes)
-Abnormalities of the chest wall
-Abnormalities of the spine
-Abnormalities of the kidneys
-Abnormalities of the heart
-Abnormalities of the face
-Abnormalities of the brain
-Growth retardation
-Developmental delay
-Feeding difficulties
-Respiratory problems
-Hearing loss
-Vision problems
-Cleft lip and/or palate
-Cognitive impairment
-Seizures
-Behavioral problems

Short rib-polydactyly syndrome, Verma-Naumoff 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 syndrome.

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

• Surgery to correct skeletal abnormalities, such as rib deformities, extra digits, and clubfoot
• Physical therapy to improve mobility and strength
• Respiratory support, such as oxygen therapy, to help with breathing difficulties
• Feeding tube to ensure adequate nutrition
• Medications to treat associated conditions, such as seizures
• Genetic counseling to help families understand the condition and its implications

1. Autosomal recessive inheritance: Short rib-polydactyly syndrome, Verma-Naumoff type 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. Mutations in the IFT140 gene: Short rib-polydactyly syndrome, Verma-Naumoff type 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-poly

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