Rhizomelic dysplasia, Patterson-Lowry type is a rare genetic disorder that affects the development of bones and joints. It is characterized by shortening of the proximal (closest to the center of the body) bones in the arms and legs, joint contractures, and skeletal abnormalities. Other features may include facial abnormalities, intellectual disability, and hearing loss. This condition is caused by mutations in the PEX7 gene and is inherited in an autosomal recessive pattern.

The symptoms of Rhizomelic dysplasia, Patterson-Lowry type, include shortening of the proximal (closest to the center of the body) bones of the arms and legs, a large head, a prominent forehead, a flattened bridge of the nose, a short nose, a wide mouth, and a protruding lower jaw. Other features may include a short neck, a small chest, a protruding abdomen, and a high-arched palate. Affected individuals may also have joint contractures, scoliosis, and/or hip dislocation. Intellectual disability is common.

Rhizomelic dysplasia, Patterson-Lowry type is caused by a mutation in the PEX7 gene. This gene is responsible for the production of a protein called peroxisomal biogenesis factor 7, which is involved in the formation of peroxisomes. Peroxisomes are organelles that are important for the breakdown of fatty acids and other molecules. Mutations in the PEX7 gene lead to a decrease in the production of this protein, which results in the abnormal development of bones and other tissues.

There is no known cure for Rhizomelic dysplasia, Patterson-Lowry type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and other supportive care. Additionally, genetic counseling may be recommended for families affected by the condition.

1. Autosomal recessive inheritance
2. Mutations in the PEX7 gene
3. Maternal consanguinity
4. Advanced maternal age
5. Exposure to certain environmental toxins
6. Low birth weight
7. Premature birth

At this time, there is no cure for Rhizomelic dysplasia, Patterson-Lowry type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and medications to help manage pain and other symptoms.