Affected newborns may be small at birth, but otherwise appear normal. 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.

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Dyggve-Melchior-Clausen Syndrome is an extremely rare genetic condition which is characterized by abnormal skeletal development, extremely short head, and intellectual disability. The skeletal abnormalities noted in Dyggve-Melchior-Clausen Syndrome is a barrel shaped chest, partial hip dislocation, knocked knees, and bowing of the legs. The affected individual will also have instability of the upper neck causing spinal cord compression, weakness and in some cases even paralysis. Advertisement Individuals with Dyggve-Melchior-Clausen Syndrome also have growth deformities with a very short stature.

The main cause of Dyggve-Melchior-Clausen Syndrome is mutation of the dymeclin gene and follows an autosomal recessive trait meaning that two copies of the faulty gene is required from each parent for development of Dyggve-Melchior-Clausen Syndrome. As stated, Dyggve-Melchior-Clausen Syndrome follows an autosomal recessive trait and is caused by mutation of the dymeclin gene. Majority of children with Dyggve-Melchior-Clausen Syndrome are born out of consanguineous parents or parents that are closely related to each other.

Advertisement The dymeclin gene is associated with long arm of chromosome 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. Dyggve-Melchior-Clausen Syndrome results from absence or near complete absence of the protein due to mutation of the dymeclin gene resulting in 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 as the child will grow. Advertisement 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 despite Dyggve-Melchior-Clausen Syndrome.

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.

A thorough clinical evaluation and a detailed history of the patient and family along with the classic presenting features of the disease will be the first step towards diagnosing Dyggve-Melchior-Clausen Syndrome. Radiological studies may be done to look at the specific skeletal abnormalities like barrel shaped chest and irregular shaped carpal bones which are classic signs for Dyggve-Melchior-Clausen Syndrome.

Advertisement Additionally, genetic testing will be done in which mutation of the dymeclin gene will be observed confirming the diagnosis of Dyggve-Melchior-Clausen Syndrome.

The mainstay of treatment for Dyggve-Melchior-Clausen Syndrome is supportive and symptomatic. Surgery may be recommended for individuals with correctable skeletal deformities. In cases of dislocation of the cervical vertebra, then a spinal fusion may be the route to take for correcting this deformity.

This procedure is mainly done to protect the spinal cord from any damage due to the dislocated cervical vertebra which can cause paralysis. Surgeries may also be recommended for treatment of deformities of the hip joints and shoulder joints. In some cases, a hip replacement may be required for patient affected with Dyggve-Melchior-Clausen Syndrome. It should also be noted that children with Dyggve-Melchior-Clausen Syndrome may greatly benefit from special education and speech and language therapy so as to make them as independent as possible and make their growth as normal as possible despite Dyggve-Melchior-Clausen Syndrome.

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