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Disease Profile
Desbuquois syndrome
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
The signs and symptoms of Desbuquois
- 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,
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 |
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 |
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 |
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
DiagnosisMaking 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
Treatment Only symptomatic treatment is currently available for individuals with Desbuquois
Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
References
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