(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Newborns affected by Dyggve-Melchior-Clausen Syndrome 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.
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.
The signs and symptoms of Dyggve-Melchior-Clausen Syndrome may include:
Based on the frequency of symptoms observed, the following information may be noted:
Very frequently present symptoms in 80-99% of the cases:
Frequently present symptoms in 30-79% of the cases:
Occasionally present symptoms in 5-29% of the cases:
(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The complications of Dyggve-Melchior-Clausen Syndrome may include:
Complications may occur with or without treatment, and in some cases, due to treatment also.
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.
(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Currently, Dyggve-Melchior-Clausen Syndrome may not be preventable, since it is a genetic disorder.
Regular medical screening at periodic intervals with tests and physical examinations are recommended.
Dyggve-Melchior-Clausen Syndrome is a progressive condition, meaning that signs and symptoms worsen over time.
(Source: Dyggve-Melchior-Clausen Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
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