Desbuquois Syndrome

A rare genetic disorder affecting bone growth

Desbuquois Syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short stature, joint laxity, distinctive facial features
Complications	N/A
Onset	Birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutations in CANT1 or XYLT1
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive care
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Desbuquois Syndrome is a rare genetic disorder characterized by skeletal dysplasia, leading to short stature, joint laxity, and distinctive facial features. It is named after the French pediatrician Gabriel Desbuquois, who first described the condition.

Genetics

Desbuquois Syndrome is primarily caused by mutations in the CANT1 gene, which encodes a calcium-activated nucleotidase. This enzyme is involved in the metabolism of nucleotides, which are essential for various cellular processes, including glycosaminoglycan synthesis. Mutations in the XYLT1 gene, which encodes xylosyltransferase 1, have also been associated with a variant of Desbuquois Syndrome. Both genes are crucial for normal cartilage and bone development.

Clinical Features

Individuals with Desbuquois Syndrome typically present with:

• Short stature due to skeletal dysplasia
• Joint laxity, leading to joint dislocations
• Distinctive facial features, including a flat midface, prominent eyes, and a small nose
• Scoliosis or other spinal abnormalities
• Brachydactyly (short fingers)

Diagnosis

Diagnosis of Desbuquois Syndrome is based on clinical evaluation and confirmed by genetic testing. Radiographic findings often show advanced bone age, metaphyseal changes, and spondyloepiphyseal dysplasia. Genetic testing can identify mutations in the CANT1 or XYLT1 genes.

Management

There is no cure for Desbuquois Syndrome, and treatment is primarily supportive. Management strategies include:

• Physical therapy to improve joint stability and mobility
• Orthopedic interventions for joint dislocations and spinal deformities
• Regular monitoring of growth and development
• Genetic counseling for affected families

Prognosis

The prognosis for individuals with Desbuquois Syndrome varies depending on the severity of the symptoms and the presence of complications. With appropriate management, many individuals can lead fulfilling lives, although they may face challenges related to mobility and physical development.

Also see

• Skeletal dysplasia
• Joint laxity
• Genetic counseling
• Orthopedic surgery

NIH genetic and rare disease info

• NIH info on Desbuquois Syndrome

Desbuquois Syndrome is a rare disease.