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Diseases

Genetic and Rare Diseases Information Center (GARD)

Desbuquois syndrome


Other Names for this Disease
  • DBQD
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
  • Desbuquois dysplasia
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Symptoms

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What are the signs and symptoms of Desbuquois syndrome?

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include:[1][2][3][4][5] 

  • Intrauterine growth retardation;
  • Short stature with shortened extremities (arms and legs). Adult stature is usually 114 cm or greater.;
  • Generalized joint laxity, which can cause joint dislocations;
  • 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;
  • Obesity in adults.

Complications may include sleep apnea, frequent respiratory infections, strabismus, club foot, cleft palate, glaucoma, and cryptorchidism (undescended testicle).[1]

There are two forms of Debuquois syndrome that have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies (accessory ossification center situated away (distal) from the second bone of the hand (metacarpal), bifid distal phalanx (the bone of the tip of the finger is divided in two parts), or thumb with delta-shaped phalanx). A variant form of the syndrome, Kim variant, has been described in 7 patients from Korea and Japan, and is characterized by short stature, articular and minor facial anomalies, together with hand anomalies, including short metacarpals (bones of the hand) and fingers with long bones (elongated phalanges) with advanced carpal bone age.[4]

Last updated: 9/18/2015

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%
Enlarged thorax 90%
Glaucoma 90%
Joint hypermobility 90%
Patellar dislocation 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%
Broad foot 5%
Broad thumb 5%
Coxa valga 5%
Muscular hypotonia 5%
Narrow chest 5%
Pectus carinatum 5%
Pectus excavatum 5%
Pes planus 5%
Single transverse palmar crease 5%
Toe clinodactyly 5%
Truncal obesity 5%
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 vara -
Depressed nasal bridge -
Disproportionate short-limb short stature -
Epiphyseal dysplasia -
Flat acetabular roof -
Flat face -
Flattened epiphysis -
Genu varum -
Hyperlordosis -
Intellectual disability -
Joint laxity -
Kyphosis -
Long philtrum -
Malar flattening -
Medial deviation of the foot -
Metaphyseal widening -
Microretrognathia -
Midface retrusion -
Motor delay -
Myopia -
Narrow mouth -
Obesity -
Osteoarthritis -
Osteoporosis -
Partial duplication of the distal phalanx of the hallux -
Phalangeal dislocation -
Platyspondyly -
Proptosis -
Proximal fibular overgrowth -
Radioulnar dislocation -
Relative macrocephaly -
Round face -
Sandal gap -
Severe short stature -
Short 1st metacarpal -
Short clavicles -
Short femoral neck -
Short long bone -
Short metacarpal -
Short metatarsal -
Short nose -
Short phalanx of finger -
Talipes equinovarus -
Variable expressivity -
Waddling gait -

Last updated: 5/1/2016

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. Faivre L & Cormier-Daire V. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf.
  2. Desbuquois dysplasia; DBQD. OMIM. December 23, 2014; http://www.ncbi.nlm.nih.gov/omim/251450. Accessed 9/14/2015.
  3. Kaissi A A, Klaushofer K & Grill F. Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. Cases Journal. 2009; 2:7873. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769382/?tool=pubmed. Accessed 9/14/2015.
  4. Desbuquois syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631.
  5. Kaissi A A & cols. Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a probable mild form of Desbuquois dysplasia: a case report and review of the literature. Cases Journal. 2009; 2:45. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648951/. Accessed 9/14/2015.


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