Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

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.

Symptoms


Newline Maker

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

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.