Short rib-polydactyly syndrome, Beemer-Langer type (SRPSBL) 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, Beemer-Langer type 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
-Cleft palate
-Hernias
-Respiratory problems
-Hearing loss
-Vision problems
-Seizures

Short rib-polydactyly syndrome, Beemer-Langer 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 extra fingers and toes, as well as other skeletal abnormalities.

The treatments for Short rib-polydactyly syndrome, Beemer-Langer 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 any skeletal abnormalities, physical therapy to improve mobility, and medications to manage pain. In some cases, a feeding tube may be necessary to ensure adequate nutrition. Genetic counseling may also be recommended to help families understand the condition and its implications.

1. Autosomal recessive inheritance: Short rib-polydactyly syndrome, Beemer-Langer 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. Mutation in the IFT140 gene: Short rib-polydactyly syndrome, Beemer-Langer 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-polydact

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