Definition

What is Dyggve-Melchior-Clausen syndrome?

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability.

How common is Dyggve-Melchior-Clausen syndrome?

Dyggve-Melchior-Clausen syndrome is extremely rare. Only about 100 cases have been reported to date. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Dyggve-Melchior-Clausen syndrome?

Infants born with Dyggve-Melchior-Clausen syndrome will be abnormally small but otherwise will have normal features. As the child ages, characteristics of Dyggve-Melchior-Clausen syndrome start to develop. By the time the child is 2 years of age, he or she will start having chest deformities with a barrel shaped chest.

The child will also have feeding problems and problems attaining developmental milestones on time. Skeletal abnormalities also start to present after the age of 2 years.

Some of the other deformities that may present in a child with Dyggve-Melchior-Clausen syndrome are abnormally small head, a long skull, protruding lower part of the jaw. As the child grows, he or she will start having intellectual disabilities which will tend to worsen with time.

Even though the symptoms of Dyggve-Melchior-Clausen syndrome may be moderate to severe but normally an affected child may have a relatively good health and may survive up to adulthood as well.

Additionally, lumbar lordosis, kyphosis, and scoliosis are also one of the presenting features of Dyggve-Melchior-Clausen syndrome. The affected child may also have irregularly shaped carpal bones.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Dyggve-Melchior-Clausen syndrome?

Dyggve-Melchior-Clausen syndrome  is caused by mutation of the dymeclin gene.

The main function of this gene is to facilitate homeostasis and organization of the Golgi apparatus and facilitating movement of proteins to and from Golgi apparatus. Mutation of the dymeclin gene leads to absence or near complete absence of the protein, resulting in Dyggve-Melchior-Clausen syndrome.

Dyggve-Melchior-Clausen syndrome follows an autosomal recessive trait. Majority of children with this condition are born out of consanguineous parents or parents that are closely related to each other.

Risk factors

What increases my risk for Dyggve-Melchior-Clausen syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Dyggve-Melchior-Clausen syndrome diagnosed?

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.

How is Dyggve-Melchior-Clausen syndrome treated?

Treatment of individuals with Dyggve-Melchior-Clausen 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 Dyggve-Melchior-Clausen syndrome may benefit from early intervention and special educational programs.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Dyggve-Melchior-Clausen syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 1, 2018 | Last Modified: February 1, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.