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Disease Profile
Diastrophic dysplasia
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.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q77.5
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)
DTD; DD; Diastrophic dwarfism
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Diastrophic dysplasia is a disorder of cartilage and bone development.[1] Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis).[2] Joint
Symptoms
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 | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
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 |
Hypoplastic cervical vertebrae | 0008434 | |
Increased bone mineral density |
Increased bone density
|
0011001 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ] |
0008921 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
0002650 | ||
Short finger |
Stubby finger
|
0009381 |
Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
30%-79% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Hip dysplasia | 0001385 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Low-set, posteriorly rotated ears | 0000368 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Overfolded helix |
Overfolded ears
|
0000396 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
5%-29% of people have these symptoms | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Visceral angiomatosis | 0100761 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cervical kyphosis |
Rounded neck
|
0002947 |
Costal cartilage calcification | 0006646 | |
Cystic lesions of the pinnae | 0010723 | |
Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
Flattened epiphysis |
Flat end part of bone
|
0003071 |
Glabellar hemangioma | 0001076 | |
Hip |
0003273 | |
Hitchhiker thumb | 0001234 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Hypertrophic auricular cartilage | 0008608 | |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Kyphoscoliosis | 0002751 | |
Laryngotracheal stenosis | 0004894 | |
Short long bone |
Long bone shortening
|
0003026 |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
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
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. Where to Start
In-Depth Information
References
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