Dyssegmental dysplasia, Rolland-Desbuquois type is a rare genetic disorder that affects the development of bones and joints. It is characterized by short stature, joint contractures, and skeletal abnormalities. Affected individuals may also have distinctive facial features, including a prominent forehead, a flat nasal bridge, and a small lower jaw. Other features may include intellectual disability, seizures, and vision and hearing problems. This condition is caused by mutations in the SLC26A2 gene and is inherited in an autosomal recessive pattern.

The symptoms of Dyssegmental dysplasia, Rolland-Desbuquois type include:

-Severely short stature
-Growth retardation
-Delayed motor development
-Joint contractures
-Scoliosis
-Flat face
-Widely spaced eyes
-Small jaw
-Low-set ears
-Thin lips
-High-arched palate
-Abnormalities of the hands and feet
-Abnormalities of the skull
-Abnormalities of the spine
-Abnormalities of the ribs
-Abnormalities of the heart
-Abnormalities of the kidneys
-Abnormalities of the gastrointestinal tract
-Abnormalities of the genitalia
-Abnormalities of the central nervous system

Dyssegmental dysplasia, Rolland-Desbuquois type is caused by a mutation in the gene SLC26A2. This gene is responsible for the production of a protein called pendrin, which is involved in the transport of chloride ions across cell membranes. Mutations in this gene can lead to abnormal development of the skeleton, resulting in the characteristic features of Dyssegmental dysplasia, Rolland-Desbuquois type.

There is no known cure for Dyssegmental dysplasia, Rolland-Desbuquois type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and other interventions to help improve mobility, strength, and function. In some cases, medications may be prescribed to help manage pain and other symptoms. Genetic counseling may also be recommended for families affected by the condition.

1. Autosomal recessive inheritance
2. Mutations in the COL10A1 gene
3. Maternal diabetes
4. Advanced maternal age
5. Low birth weight
6. Small for gestational age
7. Intrauterine growth restriction
8. Premature birth
9. Abnormal fetal movements
10. Abnormal fetal ultrasound findings

At this time, there is no cure for Dyssegmental dysplasia, Rolland-Desbuquois type. However, there are medications that can help manage the symptoms associated with this condition. These medications may include muscle relaxants, pain medications, and physical therapy. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.