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

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.

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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		0002983
Pectus carinatum	Pigeon chest	0000768
Platyspondyly	Flattened vertebrae	0000926
Short thorax		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	Hunched back Round 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
Scoliosis	Abnormal curving of the spine	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
Autism		0000717
Shoulder dislocation		0003834
Percent of people who have these symptoms is not available through HPO
Abnormality of the nervous system	Neurologic abnormalities Neurological abnormality [ more ]	0000707
Autosomal recessive inheritance		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
Deformed sella turcica		0002681
Distal ulnar hypoplasia		0005033
Enlargement of the costochondral junction		0000920
Flat acetabular roof		0003180
Flat glenoid fossa		0000911
Hallux valgus		0001822
Hypoplastic facial bones	Decreased size of facial bones Decreased size of facial skeleton [ more ]	0002692
Hypoplastic iliac wing		0002866
Hypoplastic ischia		0003175
Hypoplastic pelvis		0008839
Hypoplastic sacrum	Small sacrum	0004590
Hypoplastic scapulae	Small shoulder blade	0000882
Iliac crest serration		0008786
Irregular iliac crest		0003796
Lumbar hyperlordosis		0002938
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Multicentric ossification of proximal femoral epiphyses		0006450
Multicentric ossification of proximal humeral epiphyses		0004997
Narrow greater sacrosciatic notches		0003375
Prominent sternum		0000884
Rhizomelia		0008905
Severe global developmental delay		0011344
Shield chest		0000914
Short femoral neck	Short neck of thighbone	0100864
Short metacarpal	Shortened long bone of hand	0010049
Short metatarsal	Short long bone of foot	0010743
Spondyloepimetaphyseal dysplasia		0002651
Thickened calvaria	Increased thickness of skull cap Thickened skull cap [ more ]	0002684
Thoracic kyphosis		0002942
Waddling gait	'Waddling' gait Waddling walk [ more ]	0002515
Wide pubic symphysis		0003183
X-linked recessive inheritance		0001419

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/7/2018

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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

Related Diseases Related Diseases

Related 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.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Smith-McCort syndrome (SMC; see this term), which presents with the same clinical and radiological features as DMC but without intellectual deficiency, and Morquio disease (or mucopolysaccharidosis type 4, MPS IV; see this term), which is clinically similar but has specific radiological and enzymatic signs. Visit the Orphanet disease page for more information.

Organizations 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

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

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? We want to hear from you.

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.

GARD Answers GARD Answers

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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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