Rhizomelic syndrome, Urbach type is a rare genetic disorder characterized by shortening of the proximal (closest to the center of the body) bones of the arms and legs. It is caused by a mutation in the PEX7 gene, which is responsible for the production of an enzyme called peroxisomal biogenesis factor 7. Symptoms of this disorder include short stature, joint contractures, and skeletal abnormalities. Other features may include intellectual disability, hearing loss, and vision problems.

The symptoms of Rhizomelic syndrome, Urbach type, include:

-Shortening of the proximal (closest to the center of the body) segments of the arms and legs
-Low muscle tone (hypotonia)
-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Hearing loss
-Vision problems
-Scoliosis
-Joint contractures
-Abnormalities of the hands and feet
-Growth retardation
-Facial dysmorphism (abnormal facial features)

Rhizomelic syndrome, Urbach 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, which are small organelles that play a role in the breakdown of fatty acids and other molecules. Mutations in this gene can lead to a decrease in the number of peroxisomes, which can cause a variety of symptoms, including shortening of the arms and legs (rhizomelic dwarfism), intellectual disability, seizures, vision and hearing loss, and other physical abnormalities.

The treatments for Rhizomelic syndrome, Urbach type, are primarily supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and nutritional support. Physical therapy can help improve muscle strength and range of motion. Occupational therapy can help improve fine motor skills and activities of daily living. Speech therapy can help improve communication and swallowing. Orthopedic surgery may be necessary to correct joint deformities or to improve mobility. Nutritional support may be necessary to ensure adequate caloric intake and to prevent malnutrition.

1. Genetic mutation in the PEX7 gene
2. Family history of Rhizomelic syndrome, Urbach type
3. Male gender
4. Low birth weight
5. Premature birth
6. Abnormal facial features
7. Short stature
8. Joint contractures
9. Scoliosis
10. Intellectual disability
11. Seizures
12. Abnormalities of the eyes, ears, and heart
13. Abnormalities of the kidneys and urinary tract
14. Abnormalities of the gastrointestinal tract

At this time, there is no known cure for Rhizomelic Syndrome, Urbach type. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with muscle spasms, pain, and seizures.