genetic test

Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the … Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Antley-Bixler Syndrome: Causes, Symptoms & Treatment

Antley-Bixler syndrome is a genetically caused disorder whose incidence in the general population is relatively low. The commonly used abbreviation for the disorder is ABS. To date, approximately 50 cases of the disease are known and described in individuals. Basically, Antley-Bixler syndrome appears equally in men and women. What is Antley-Bixler syndrome? Antley-Bixler syndrome got … Antley-Bixler Syndrome: Causes, Symptoms & Treatment

Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Muscle-eye-brain disease (MEB) belongs to the disease group of congenital muscular dystrophies, which in addition to severe dysfunction in the muscles also have malformations in the eyes and brain. All diseases of this group are hereditary. Any forms of muscle-eye-brain disease are incurable and lead to death in childhood or adolescence. What is muscle-eye-brain disease? … Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Fibrodysplasia Ossificans Progressiva: Causes, Symptoms & Treatment

Fibrodysplasia ossificans progressiva (FOP) is a very rare hereditary disorder characterized by progressive ossification of the skeleton. Even the smallest injuries trigger additional bone growth. There is not yet a causative treatment for this disease. What is fibrodysplasia ossificans progressiva? The term fibrodysplasia ossificans progressiva already indicates progressive bone growth. This occurs in spurts, and … Fibrodysplasia Ossificans Progressiva: Causes, Symptoms & Treatment

Fechtner Syndrome: Causes, Symptoms & Treatment

Fechtner syndrome is a platelet defect. The cause is due to a mutation in the genetic material: Affected parents can pass the syndrome on to their children. What is Fechtner syndrome? Fechtner syndrome is an inherited disorder that the World Health Organization (WHO) classifies as a qualitative platelet defect (ICD-10, D69.1). The syndrome thus belongs … Fechtner Syndrome: Causes, Symptoms & Treatment

Charcot-Marie-Tooth Disease: Causes, Symptoms & Treatment

Charcot-Marie-Tooth disease is a hereditary neuromuscular disorder. It causes progressive paralysis of the extremities with subsequent muscle wasting. There is no known causative cure. What is Charcot-Marie-Tooth disease? Charcot-Marie-Tooth disease is the name given to an inherited neuromuscular disease. In this type of disease, muscle breakdown occurs due to nerves. The disease is named after … Charcot-Marie-Tooth Disease: Causes, Symptoms & Treatment

EEC Syndrome: Causes, Symptoms & Treatment

EEC syndrome is a rare condition that is present at birth. The abbreviation stands for the terms ectrodactyly, ectodermal dysplasia and cleft (English name for cleft lip and palate). Thus, the disease term summarizes the three most important symptoms of EEC syndrome. Patients suffer from a cleft hand or foot and defects of ectodermal dysplasia. … EEC Syndrome: Causes, Symptoms & Treatment

Schoepf-Schulz-Passarge Syndrome: Causes, Symptoms & Treatment

Schöpf-Schulz-Passarge syndrome is a skin disorder. It occurs very rarely and is a hereditary disease. Patients experience symptoms mainly in the head and face area. What is Schöpf-Schulz-Passarge syndrome? Schöpf-Schulz-Passarge syndrome was named after their discoverers. For the first time in 1971, German physicians and dermatologists Erwin Schöpf, Hans-Jürgen Schulz and Eberhard Passarge reported this … Schoepf-Schulz-Passarge Syndrome: Causes, Symptoms & Treatment

Limb Mammary Syndrome: Causes, Symptoms & Treatment

Limb mammary syndrome is a condition that belongs to the category of ectodermal dysplasias. Limb mammary syndrome is already present at birth in affected individuals. The disease is known by the abbreviation LMS and occurs comparatively rarely. Limb mammary syndrome is typically characterized by marked anatomic malformations of the feet and hands in association with … Limb Mammary Syndrome: Causes, Symptoms & Treatment

Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Chondrodyplasia punctata of the rhizomelic type is one of the congenital malformations. The disorder is characterized by a striking short stature. The patient’s life expectancy is severely shortened in this disease. What is chondrodyplasia punctata of the rhizomelic type? Chondrodyplasia punctata syndromes are a group of different diseases. All subtypes are genetic diseases with characteristic … Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Bethlem Myopathy: Causes, Symptoms & Treatment

Bethlem myopathy is a very rare inherited disease that is associated with muscle weakness and wasting, as well as limited joint function and movement. What is Bethlem myopathy? Bethlem myopathy was first described in 1976 by scientists J. Bethlem and G. K. Wijngaarden. That is why it was given its name in 1988. It is … Bethlem Myopathy: Causes, Symptoms & Treatment

L1CAM Syndrome: Causes, Symptoms & Treatment

L1CAM syndrome is a rare inherited disorder. The mode of inheritance of L1CAM syndrome is x-linked. The typical symptoms of L1CAM syndrome are expressed as spasticity, adducted thumb, and various brain abnormalities in affected patients. What is L1CAM syndrome? L1CAM syndrome is also known by the synonymous names CRASH syndrome, MASA syndrome, and Gareis-Mason syndrome. … L1CAM Syndrome: Causes, Symptoms & Treatment