Cleft palate short stature vertebral anomalies syndrome

Cleft Palate Short Stature Vertebral Anomalies Syndrome (CPSSVAS) is a rare genetic disorder characterized by a combination of physical abnormalities. These include cleft palate, short stature, and vertebral anomalies. The syndrome is extremely rare, with only a few reported cases worldwide.

Symptoms and Signs

The primary symptoms of CPSSVAS are a cleft palate, short stature, and vertebral anomalies. The cleft palate is a split or opening in the roof of the mouth, which can affect speech, eating, and hearing. Short stature is defined as a height that is 2 standard deviations below the mean for age and gender. Vertebral anomalies refer to any malformation or abnormality in the spine.

Other symptoms may include micrognathia (a smaller than normal jaw), hearing loss, and intellectual disability. However, the presence and severity of these symptoms can vary greatly between individuals.

Causes

The exact cause of CPSSVAS is currently unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in a yet unidentified gene. It is thought to be inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene to pass it on to their child.

Diagnosis

Diagnosis of CPSSVAS is based on the presence of the characteristic physical abnormalities. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for CPSSVAS is symptomatic and supportive. This may include surgery to repair the cleft palate, growth hormone therapy to address short stature, and physical therapy for vertebral anomalies. Individuals with the syndrome may also benefit from speech therapy, special education services, and hearing aids.

Prognosis

The prognosis for individuals with CPSSVAS varies depending on the severity of the symptoms and the success of treatment. With appropriate management, many individuals with the syndrome can lead productive lives.

See Also

• Cleft palate
• Short stature
• Vertebral anomalies
• Genetic disorders
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Cleft palate short stature vertebral anomalies syndrome

Cleft palate short stature vertebral anomalies syndrome is a rare disease.

Cleft palate short stature vertebral anomalies syndrome Resources
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