Dyggve-Melchior-Clausen syndrome

Title

Other Names:

Dyggve-Melchior-Clausen disease; DMC syndrome

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner.^[1] Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.^[2]

Last updated: 6/9/2011

Symptoms Symptoms

Affected newborns may be small at birth, but otherwise appear normal. Skeletal findings are often recognized first between 1 and 18 months. With age, other characteristics begin to develop. Chest deformities, feeding difficulties, and developmental delay usually occur before 18 months. Disproportionate short stature usually occurs after 18 months. Additional features may include a long skull, distinctive facial appearance, a protruding jaw, microcephaly, and claw-like hands. Intellectual disability occurs in most cases, ranging from moderate to severe.^[1]

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 contractures, especially of the elbows and hips. Secondary problems resulting from the skeletal abnormalities may include spinal compression, dislocated hips, and restricted joint mobility. These problems may in turn cause a waddling gait.^[1]

Last updated: 5/18/2011

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of epiphysis morphology	90%
Abnormality of the hip bone	90%
Abnormality of the metaphyses	90%
Cognitive impairment	90%
Limb undergrowth	90%
Pectus carinatum	90%
Short stature	90%
Short thorax	90%
Skeletal dysplasia	90%
Abnormality of the metacarpal bones	50%
Abnormality of the wrist	50%
Hyperlordosis	50%
Hypoplasia of the odontoid process	50%
Kyphosis	50%
Limitation of joint mobility	50%
Microcephaly	50%
Neurological speech impairment	50%
Sloping forehead	50%
Spinal canal stenosis	50%
Attention deficit hyperactivity disorder	7.5%
Autism	7.5%
Shoulder dislocation	7.5%
Abnormality of the nervous system	-
Autosomal recessive inheritance	-
Avascular necrosis of the capital femoral epiphysis	-
Barrel-shaped chest	-
Beaking of vertebral bodies	-
Brachycephaly	-
Broad foot	-
Broad palm	-
Camptodactyly	-
Carpal bone hypoplasia	-
Coarse facial features	-
Cone-shaped epiphyses of the phalanges of the hand	-
Coxa vara	-
Deformed sella turcica	-
Disproportionate short-trunk short stature	-
Distal ulnar hypoplasia	-
Enlargement of the costochondral junction	-
Flat acetabular roof	-
Flat glenoid fossa	-
Genu valgum	-
Hallux valgus	-
Hypoplastic facial bones	-
Hypoplastic iliac wing	-
Hypoplastic ischia	-
Hypoplastic pelvis	-
Hypoplastic sacrum	-
Hypoplastic scapulae	-
Iliac crest serration	-
Irregular iliac crest	-
Lumbar hyperlordosis	-
Mandibular prognathia	-
Multicentric ossification of proximal femoral epiphyses	-
Multicentric ossification of proximal humeral epiphyses	-
Narrow greater sacrosciatic notches	-
Platyspondyly	-
Postnatal growth retardation	-
Prominent sternum	-
Rhizomelia	-
Scoliosis	-
Severe global developmental delay	-
Shield chest	-
Short femoral neck	-
Short metacarpal	-
Short metatarsal	-
Short neck	-
Spondyloepimetaphyseal dysplasia	-
Thickened calvaria	-
Thoracic kyphosis	-
Waddling gait	-
Wide pubic symphysis	-
X-linked recessive inheritance	-

Last updated: 9/1/2016

Diagnosis Diagnosis

DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. Genetic testing can also confirm a diagnosis.^[1]

Last updated: 5/16/2011

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.

Last updated: 5/16/2011

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.

Treatment Treatment

Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs.^[1]

Last updated: 5/16/2011

Prognosis Prognosis

DMC syndrome is a progressive condition, meaning that signs and symptoms worsen over time. The orthopedic complications usually progress, which can include lumbar lordosis, thoracic kyphosis, scoliosis, dislocation in the hip joints, deformed knees, and spinal cord compression.^[1]^[3] Adult height is severely reduced with height ranging from 82 cm to 128 cm (32 in to 50 in). Neurological complications may include hyperactivity, autistic-like behavior, lack of speech, and mild to severe intellectual disability.^[1]

Last updated: 5/16/2011

Do you have updated information on this condition? Let us know.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

Little People of America, Inc.
250 El Camino Real, Suite 201
Tustin, CA 92780
Toll-free: 888-572-2001
Telephone: 714-368-3689
Fax: 714-368-3367
E-mail: info@lpaonline.org
Website: http://www.lpaonline.org/

Organizations Providing General Support

Coalition for Heritable Disorders of Connective Tissue
4301 Connecticut Avenue, Suite 404
Washington, DC 20008-2304
Telephone: 202-362-9599
Fax: 202-966-8553
E-mail: chdct@pxe.org
Website: http://www.chdct2.org/index.htm
Human Growth Foundation
997 Glen Cove Avenue Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: hgf1@hgfound.org
Website: http://www.hgfound.org/

Do you know of an organization? Send us your suggestions.

Learn More 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

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

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.
Dyggve-Melchior-Clausen syndrome - Autosomal recessive
Dyggve-Melchior-Clausen syndrome - X-linked
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 Dyggve-Melchior-Clausen syndrome. Click on the link to view a sample search on this topic.

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My child was recently diagnosed with Dyggve-Melchior-Clausen syndrome. I am trying to find any information that is available, particulary on life expectancy and and prognosis into adulthood. See answer

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References References

Dyggve Melchior Clausen syndrome. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/874/viewAbstract. Accessed 5/16/2011.
Dyggve-Melchior-Clausen syndrome, X-linked. Online Mendelian Inheritance of Man (OMIM). 1994; http://www.ncbi.nlm.nih.gov/omim/304950. Accessed 5/16/2011.
V. El Ghouzzi. Dyggve-Melchior-Clausen disease. Orphanet. February 2000; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=239. Accessed 5/16/2011.

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