Rare Endocrinology News
Disease Profile
Dyggve-Melchior-Clausen 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
Infancy
ICD-10
Q77.7
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)
Dyggve-Melchior-Clausen disease; DMC syndrome
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Dyggve-Melchior-Clausen (DMC)
Symptoms
Affected individuals can also develop a protruding breastbone; spinal abnormalities; abnormal bones in the hands, fingers, toes, wrists, and long bones of the arms and legs; and joint
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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the ilium | 0002867 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Genu valgum |
Knock knees
|
0002857 |
Global developmental delay | 0001263 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Disproportionate short-trunk short stature |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hypoplasia of the odontoid process | 0003311 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Kyphosis |
Round back
Hunched back
[ more ] |
0002808 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
5%-29% of people have these symptoms | ||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Shoulder dislocation | 0003834 | |
1%-4% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Femoral bowing |
Bowed thighbone
|
0002980 |
Flaring of lower rib cage | 0006589 | |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Prominent calcaneus |
Prominent heel bone
|
0012428 |
Rhizomelic arm shortening | 0004991 | |
Shield chest | 0000914 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ] |
0002982 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
0000007 | ||
Avascular necrosis of the capital femoral epiphysis | 0005743 | |
Barrel-shaped chest |
Barrel chest
|
0001552 |
Beaking of vertebral bodies | 0004568 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Coxa vara | 0002812 | |
Diagnosis DMC
GeneTests lists the name of the laboratory that performs clinical genetic testing for Dyggve-Melchior-Clausen syndrome. To view the contact information for this laboratory, click here.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you. Testing Resources
Treatment Treatment of individuals with DMC
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
Organizations Providing General Support
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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