Disease Profile

Leri Weill dyschondrosteosis

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.

Unknown

Age of Onset

Antenatal

ICD-10

Q77.8

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.

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)

LWD; Dyschondrosteosis; DCO;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity.[1][2] Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty.[3][2] People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females.[1][3][2] Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called tibia, elbow abnormalities, scoliosis, and high-arched palate.[3][2] Intelligence is not affected by this condition.[1][3] Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene.[1][2] The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance, which is similar to the autosomal dominant inheritance.[2] 

LWD is part of a group of diseases caused by deficiency of the SHOX gene, which includes a form or SHOX related short stature without additional problems.[3]

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
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of the carpal bones
0001191
Abnormality of the hip bone
Abnormality of the hips
0003272
Abnormality of the humerus
0003063
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Aplastic/hypoplastic toenail
Absent/small toenails
Absent/underdeveloped toenails

[ more ]

0010624
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
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
Diaphyseal thickening
Thickening of shaft or central part of long bones
0005019
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Dorsal subluxation of ulna
0006459
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Limited wrist movement
Limited movement of the wrist
0006248
Madelung deformity
0003067
Mesomelia
Disproportionately short middle portion of limb
0003027
Micromelia
Smaller or shorter than typical limbs
0002983
Patellar aplasia
Absent kneecap
0006443
Radial bowing
Bowing of outer large bone of the forearm
0002986
Short tibia
Short shinbone
Short skankbone

[ more ]

0005736
Tibial bowing
Bowed shankbone
Bowed shinbone

[ more ]

0002982
Ulnar bowing
Curving of inner forearm bone
0003031
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Abnormality of calvarial morphology
Abnormality of the shape of cranium
Abnormally shaped skull

[ more ]

0002648
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Genu valgum
Knock knees
0002857
Percent of people who have these symptoms is not available through HPO
Abnormal metatarsal morphology
Abnormality of the long bone of foot
0001832
Autosomal dominant inheritance
0000006
Coxa valga
0002673
Fibular hypoplasia
Short calf bone
0003038
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Increased carrying angle
0003102
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion

[ more ]

0002996
Multiple exostoses
0002762
Scoliosis
0002650
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short toe
Short toes
Stubby toes

[ more ]

0001831
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Somatropin (r-DNA) for injection(Brand name: Humatrope) Manufactured by Eli Lilly and Company
      FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox-containing gene) deficiency whose epiphyses are not closed.
      National Library of Medicine Drug Information Portal

    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 Leri Weill dyschondrosteosis. 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 Leri Weill dyschondrosteosis. Click on the link to view a sample search on this topic.

          References

          1. Heath K. Léri-Weill dyschondrosteosis. Orphanet Web site. May 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240.
          2. Léri-Weill dyschondrosteosis. Genetics Home Reference (GHR). January 2012; https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis.
          3. Binder G, Rappold GA. SHOX Deficiency Disorders. GeneReviews. August 20, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1215/.