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Other Names for this Disease
- Desbuquois dysplasia
- Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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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.
Last updated: 6/14/2011
- 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.