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Desbuquois syndrome

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Other Names for this Disease

  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Desbuquois syndrome?

What are the signs and symptoms of Debuquois syndrome?

What causes Debuquois syndrome?

How is Debuquois syndrome inherited?

How might Debuquois syndrome be treated?

What is Desbuquois syndrome?

Desbuquois syndrome is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, joint laxity, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[1] There is evidence that in some individuals (those with hand abnormalities only), it is caused by mutations in the CANT1 gene. It is inherited in an autosomal recessive manner.[2] Treatment for the condition is geared towards the individual signs and symptoms present in each individual.[1]
Last updated: 6/14/2011

What are the signs and symptoms of Debuquois syndrome?

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include intrauterine growth retardation; short stature with shortened extremities (arms and legs); generalized joint laxity; radial deviation of the fingers with thumbs that are often broad and in the "hitchhiker position"; narrow chest with pectus carinatum (which can lead to respiratory infections); kyphoscoliosis; distinctive facial characteristics including a round flat face, prominent eyes, micrognathia (small jaw), saddle nose, long upper lip, flat philtrum (area between the upper lip and nose), and short neck; intellectual disability of various degrees; and other complications including sleep apnea, respiratory distress, strabismus, cryptorchidism (undescended testicle), cleft palate, and club foot.[1]
Last updated: 6/14/2011

What causes Debuquois syndrome?

In some individuals with Desbuquois syndrome, particularly those with hand abnormalities only, the disorder is caused by mutations in the CANT1 gene. However, it has been found that this gene does not account for individuals with Desbuquois syndrome and "normal"  hands, suggesting that there may be other unidentified genes that may also cause the condition.
Last updated: 6/14/2011

How is Debuquois syndrome inherited?

Desbuquois syndrome has been shown to follow an autosomal recessive pattern of inheritance.[1] This means that an individual must have two mutated (changed) copies of the gene that causes the disorder in each of his/her cells. The affected individual inherits one of the mutated genes from each parent; the parents are referred to as carriers. Carriers typically do not display signs and symptoms of an autosomal recessive condition. When two individuals who are carriers have children, with each pregnancy there is a 25% (1 in 4) risk for the child to have the condition, a 50% (1 in 2) risk for the child to be a carrier like each of the parents, and a 25% chance for the child to not be a carrier and not have the condition.
Last updated: 6/14/2011

How might Debuquois syndrome be treated?

Only symptomatic treatment is currently available for individuals with Desbuquois syndrome. Severe scoliosis, a common complication, may be managed with physical therapy to control the progression of spine abnormalities. Arthrodesis (surgical fusion of a joint) may be considered for dislocations. Surgery may be considered for glaucoma. Because of the degree of shortness in affected individuals, psychological support may be appropriate for some individuals.[1]
Last updated: 6/14/2011

References
  1. Laurence Faivre and Valerie Cormier-Daire. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf. Accessed 6/14/2011.
  2. Nara Sobreira et al. DESBUQUOIS DYSPLASIA; DBQD. OMIM. December 14, 2009; http://www.ncbi.nlm.nih.gov/omim/251450. Accessed 6/14/2011.


Other Names for this Disease
  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.