National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Desbuquois syndrome

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Other Names:
DBQD; Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; Desbuquois dysplasia
Categories:
Desbuquois syndrome (DBQD) 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, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[1]Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by mutations in the gene CANT1.  Some cases of DBQD type 2 are caused by mutations in the gene XYLT1 but in other cases the cause is unknown.[2] It is inherited in an autosomal recessive manner.[3] Type 1 can be associated with severe respiratory problems. Treatment for the condition is geared towards the signs and symptoms present in each individual.[1]
Last updated: 9/18/2015

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

Last updated: 9/18/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ] 		0005616
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] 		0010318
Bell-shaped thorax 0001591
Camptodactyly of finger
Permanent flexion of the finger
0100490
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] 		0008873
Glaucoma 0000501
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Patellar dislocation
Dislocated kneecap
0002999
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
30%-79% of people have these symptoms
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] 		0000499
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coxa valga 0002673
Coxa vara 0002812
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Genu recurvatum
Back knee
Knee hyperextension
[ more ] 		0002816
Low-set, posteriorly rotated ears 0000368
Radioulnar synostosis
Fused forearm bones
0002974
Scoliosis 0002650
Small hand
Disproportionately small hands
0200055
Sparse hair 0008070
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
5%-29% of people have these symptoms
Broad foot
Broad feet
Wide foot
[ more ] 		0001769
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Cleft palate
Cleft roof of mouth
0000175
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Single transverse palmar crease 0000954
Toe clinodactyly 0001863
Truncal obesity 0001956
1%-4% of people have these symptoms
Bifid uvula 0000193
Cutaneous syndactyly 0012725
Radial head subluxation 0003048
Percent of people who have these symptoms is not available through HPO
Advanced ossification of carpal bones 0004233
Advanced tarsal ossification 0008108
Autosomal recessive inheritance 0000007
Bifid distal phalanx of the thumb
Notched outermost bone of the thumb
0009611
Brachydactyly
Short fingers or toes
0001156
Broad femoral neck 0006429
Broad first metatarsal
Wide 1st long bone of foot
0010068
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Developmental glaucoma 0001087
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
Flat acetabular roof 0003180
Flat face
Flat facial shape
0012368
Flattened epiphysis
Flat end part of bone
0003071
Genu varum
Outward bow-leggedness
Outward bowing at knees
[ more ] 		0002970
Global developmental delay 0001263
Hyperlordosis
Prominent swayback
0003307
Hypodontia
Failure of development of between one and six teeth
0000668
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Long philtrum 0000343
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Malar flattening
Zygomatic flattening
0000272
Medial deviation of the foot 0008082
Metaphyseal widening
Broad wide portion of long bone
0003016
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microretrognathia
Small retruded chin
0000308
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Motor delay 0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Narrow mouth
Small mouth
0000160
Obesity
Having too much body fat
0001513
Osteoarthritis
Degenerative joint disease
0002758
Osteoporosis 0000939
Partial duplication of the distal phalanx of the hallux
Notched outermost bone of big toe
Partial duplication of the outermost bone of big toe
[ more ] 		0010097
Phalangeal dislocation 0006243
Platyspondyly
Flattened vertebrae
0000926
Postnatal growth retardation
Growth delay as children
0008897
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Proximal fibular overgrowth
Overgrowth of innermost part of calf bone
0005067
Radioulnar dislocation 0006439
Relative macrocephaly
Relatively large head
0004482
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Short clavicles
Short collarbone
0000894
Short femoral neck
Short neck of thighbone
0100864
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Variable expressivity 0003828
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
Showing of 102 |
Last updated: 7/1/2020
Desbuquois syndrome type 1 and Kim variant are caused by mutations in the CANT1 gene (located on chromosome 17q25.3). In some cases of Desbuquois syndrome type 2 there are mutations in the XYLT1 gene (located on chromosome16p12), but in other cases no cause has been identified, suggesting that there may be other unidentified genes that may also cause the condition.[2]
Last updated: 9/14/2015
Desbuquois syndrome is inherited in an autosomal recessive pattern.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to be affected,
  • 50% chance to be an unaffected carrier like each parent,
  • 25% chance to be unaffected and not a carrier.
Last updated: 9/18/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Only symptomatic treatment is currently available for individuals with Desbuquois syndrome. Many people with the condition may present with respiratory problems at birth or during infancy and need urgent attention. 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: 9/18/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes autosomal dominant or recessive Larsen syndrome, Reunion island's Larsen syndrome, Catel-Manzke syndrome, chondrodysplasia with joint dislocations, gPAPP type, CHST3-related skeletal dysplasia, spondyloepiphyseal dysplasia, Omani type, diastrophic dwarfism and humerospinal dysostosis (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Desbuquois syndrome type 1
    Desbequois syndrome type 2
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Desbuquois syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a 12-year-old granddaughter who has Desbuquois syndrome. Can you provide some information to help me understand this condition? See answer


  1. Faivre L & Cormier-Daire V. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf.
  2. Desbuquois syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631.
  3. Desbuquois dysplasia; DBQD. OMIM. December 23, 2014; http://www.ncbi.nlm.nih.gov/omim/251450. Accessed 9/14/2015.
  4. 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.
  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.