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Genetic and Rare Diseases Information Center (GARD)

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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
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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Desbuquois syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the femur 90%
Abnormality of the metaphyses 90%
Accelerated skeletal maturation 90%
Anteverted nares 90%
Aplasia/Hypoplasia of the abdominal wall musculature 90%
Camptodactyly of finger 90%
Cognitive impairment 90%
Depressed nasal bridge 90%
Enlarged thorax 90%
Glaucoma 90%
Joint hypermobility 90%
Patellar dislocation 90%
Proptosis 90%
Short neck 90%
Short stature 90%
Abnormal hair quantity 50%
Abnormality of the eyelashes 50%
Abnormality of the hip bone 50%
Blue sclerae 50%
Clinodactyly of the 5th finger 50%
Elbow dislocation 50%
Genu recurvatum 50%
Low-set, posteriorly rotated ears 50%
Radioulnar synostosis 50%
Scoliosis 50%
Short palm 50%
Ventricular septal defect 50%
Advanced ossification of carpal bones -
Advanced tarsal ossification -
Autosomal recessive inheritance -
Bifid distal phalanx of the thumb -
Brachydactyly syndrome -
Broad femoral neck -
Broad first metatarsal -
Congenital glaucoma -
Coxa valga -
Coxa vara -
Depressed nasal bridge -
Disproportionate short-limb short stature -
Flat acetabular roof -
Flattened epiphyses -
Genu varum -
Hyperlordosis -
Intellectual disability -
Joint dislocation -
Joint laxity -
Kyphosis -
Malar flattening -
Medial deviation of the foot -
Metaphyseal widening -
Microretrognathia -
Midface retrusion -
Motor delay -
Muscular hypotonia -
Myopia -
Narrow chest -
Narrow mouth -
Obesity -
Osteoarthritis -
Osteoporosis -
Partial duplication of the distal phalanx of the hallux -
Pes planus -
Phalangeal dislocations -
Platyspondyly -
Proptosis -
Proximal fibular overgrowth -
Radioulnar dislocation -
Round face -
Sandal gap -
Scoliosis -
Severe short stature -
Short 1st metacarpal -
Short femoral neck -
Short metatarsal -
Short neck -
Short nose -
Talipes equinovarus -
Variable expressivity -
Waddling gait -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


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.