hereditary diseases

Juberg-Marsidi Syndrome: Causes, Symptoms & Treatment

Juberg-Marsidi syndrome is a hereditary disorder associated with mental retardation and physical disorders. The syndrome is rare, with one case per million births. It is caused by a mutation in the ATRX gene. What is Juberg-Marsidi syndrome? Juberg-Marsidi syndrome, also called Smith-Fineman-Myers syndrome or X-linked mental retardation-hypotonic facies syndrome I, is a hereditary disorder. It … Juberg-Marsidi Syndrome: Causes, Symptoms & Treatment

Zellweger Syndrome: Causes, Symptoms & Treatment

Zellweger syndrome is the medical term for a genetic and fatal metabolic disease. This is manifested by and can be characterized by the absence of peroxisomes. The syndrome is congenital due to a gene mutation and can be inherited in families. What is Zellweger syndrome? Zellweger syndrome is a relatively rare inherited disorder. It is … Zellweger Syndrome: Causes, Symptoms & Treatment

Keratosis Follicularis Spinulosa Decalvans: Causes, Symptoms & Treatment

Keratosis follicularis spinulosa decalvans is a congenital disease of the skin. Keratosis follicularis spinulosa decalvans is inherited and occurs extremely rarely. Sometimes the disease is referred to as Siemens I syndrome or keratosis pilaris decalvans. Keratosis follicularis spinulosa decalvans was first described by Lameris in 1905. What is keratosis follicularis spinulosa decalvans? Keratosis follicularis spinulosa … Keratosis Follicularis Spinulosa Decalvans: Causes, Symptoms & Treatment

Neurofibromatosis Type 2: Causes, Symptoms & Treatment

Neurofibromatosis is a hereditary disease that manifests in two forms, type 1 and type 2. Type 2, in which the affected person suffers from benign tumors in the brain and the symptoms they cause – hearing problems, paralysis of the facial nerves, and balance disorders – is comparatively rare. Neurofibromatosis is not curable, but it … Neurofibromatosis Type 2: Causes, Symptoms & Treatment

Mal De Meleda: Causes, Symptoms & Treatment

Mal de Meleda is a particular form of erythrokeratoderma. Affected patients suffer from the disease from birth. A major symptom of mal de meleda is a condition called palmoplantar keratosis, which develops symmetrically on both sides. Over time, the symptoms spread to the backs of the hands and feet. In some cases, the condition is … Mal De Meleda: Causes, Symptoms & Treatment

Naxos Disease: Causes, Symptoms & Treatment

Naxos disease is a hereditary disease that is inherited in an autosomal recessive manner. Worldwide, it is a very rare hereditary disease, but not on the Greek island of Naxos, where it is very common and was also first described by a doctor. The dangerous thing about Naxos disease is that it always leads to … Naxos Disease: Causes, Symptoms & Treatment

Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Baller-Gerold syndrome belongs to the group of malformation syndromes with predominant involvement of the face. The syndrome is due to mutations and is passed on in an autosomal dominant inheritance. Therapy is limited to symptomatic treatment, which consists largely of surgical correction of the malformations. What is Baller-Gerold syndrome? In the disease group of congenital … Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Symptomatic of Karsch-Neugebauer syndrome are primarily deformities of the hands and feet. Further, uncontrollable eye tremor and severe strabismus are typical. All therapeutic options are primarily based on the symptoms and treatment begins immediately after birth. What is Karsch-Neugebauer syndrome? Karsch-Neugebauer syndrome is a very rare inherited disorder. It was first described by an ophthalmologist … Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Acrorenal Syndrome: Causes, Symptoms & Treatment

Acrorenal syndrome is a group of disorders associated with malformations of the kidneys and limbs. Acrorenal syndrome exists in affected individuals from birth and is characterized by an autosomal recessive mode of inheritance. Acrorenal syndrome is relatively rare. What is acrorenal syndrome? Acrorenal syndrome is a hereditary condition that results in malformations of the limbs … Acrorenal Syndrome: Causes, Symptoms & Treatment

Osteoonychodysplasia: Causes, Symptoms & Treatment

Osteoonychodysplasia is a mutation-related malformation syndrome with predominant involvement of the limbs. In addition to skeletal abnormalities, involvement of the kidneys and eyes is often present. Symptomatic treatment is aimed primarily at delaying terminal renal failure. What is osteoonychodysplasia? Malformation syndromes are characterized by dysplasia of various structures of the anatomy. In medicine, dysplasia is … Osteoonychodysplasia: Causes, Symptoms & Treatment

Hypopigmentation: Causes, Treatment & Help

Hypopigmentation is a specific symptom of human skin or hair. Hypopigmentation is usually characterized by the fact that the number of melanocytes is greatly reduced. The symptom can also occur when the formation of the skin pigment melanin is decreased. Basically, hypopigmentation can be both congenital and acquired. What is hypopigmentation? Symptoms of hypopigmentation can … Hypopigmentation: Causes, Treatment & Help

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