Rare Neurology News

Disease Profile

Diastrophic dysplasia

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

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

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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)

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 contractures and spinal deformity tend to worsen with age.[2] Mental development and intelligence are usually normal.[2] Occasionally, children with diastrophic dysplasia die in infancy due to respiratory complications such as pneumonia.[2] Management consists of maintaining joint position and mobility through physical therapy and casting. Surgical correction of clubfoot may be necessary. Arthroplasty of the hips and knees to decrease pain and increase motility may also be indicated. Indications for surgical correction of scoliosis have not yet been established.[2] Diastrophic dysplasia is caused by mutations in the SLC26A2 gene and is inherited in an autosomal recessive manner.[1][2]

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 stature
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
Scoliosis
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 palate
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 hypotonia
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
Micrognathia
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
Autosomal recessive inheritance
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 contracture
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

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.

    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.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Diastrophic dysplasia. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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. 
        • 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 Diastrophic dysplasia. Click on the link to view a sample search on this topic.

          References

          1. Diastrophic dysplasia. Genetics Home Reference. February 2008; https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia. Accessed 6/22/2015.
          2. Luisa Bonafé, MD, PhD, Lauréane Mittaz-Crettol, PhD, Diana Ballhausen, MD, and Andrea Superti-Furga, MD.. Diastrophic Dysplasia. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1350/. Accessed 6/22/2015.

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