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Dyggve-Melchior-Clausen syndrome

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Other Names:
Dyggve-Melchior-Clausen disease; DMC syndrome
Categories:
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
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
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
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 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
1%-4% of people have these symptoms
Brachydactyly
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
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
Bunion
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
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 sciatic notch 0003375
Prominent sternum 0000884
Severe global developmental delay 0011344
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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Last updated: 7/1/2020
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 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
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 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, which presents with the same clinical and radiological features as DMC but without intellectual deficiency, and mucopolysaccharidosis type 4 which is clinically similar but has specific radiological and enzymatic signs.
Visit the Orphanet disease page for more information.

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

Organizations Providing General Support

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • 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


  1. 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.
  2. 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.
  3. 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.