Rare Hematology News

Disease Profile

Desbuquois syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q78.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DBQD; Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; Desbuquois dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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, osteopeniakyphoscoliosis, 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]

Symptoms

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]

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.

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
Intellectual disability
Mental deficiency
Mental retardation, nonspecific
Mental retardation
Mental-retardation

[ more ]

0001249
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
Short neck
Decreased length of neck
0000470
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
Narrow shoulders
Low chest circumference

[ 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
Concave nasal ridge
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose

[ more ]

0011120
Cutaneous syndactyly
0012725
Hyperlordosis
Prominent swayback
0003307
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Long philtrum
0000343
Malar flattening
Zygomatic flattening
0000272
Microretrognathia
Small retruded chin
0000308
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal

[ more ]

0002643
Obesity
Having too much body fat
0001513
Radial deviation of the 2nd finger
0009467
Radial head subluxation
0003048
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Smooth philtrum
0000319
Percent of people who have these symptoms is not available through HPO
Advanc

Cause

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]

Diagnosis

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.

    Treatment

    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]

    Organizations

    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

      Learn more

      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.

        References

        1. Faivre L & Cormier-Daire V. Debuquois syndrome. Orphanet. February 2005; https://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf.
        2. Desbuquois syndrome. Orphanet. January, 2015; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631.
        3. Desbuquois dysplasia; DBQD. OMIM. December 23, 2014; https://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. https://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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648951/. Accessed 9/14/2015.

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