genetic defect

Osteopoikilosis: Causes, Symptoms & Treatment

Also known as osteopoikilosis, osteopathia condensans disseminata, or spotted bones, osteopoikilosis is a form of bone malformation. It occurs extremely rarely and is benign. The international classification according to ICD-10 is Q78.8. What is osteopoikilosis? Osteopoikilosis is characterized by compaction or hardening in bone tissue. Hamburg surgeon and radiologist Heinrich Albers-Schönberg first described osteopoikilosis in … Osteopoikilosis: Causes, Symptoms & Treatment

Hypoplastic Left Heart Syndrome: Causes, Symptoms & Treatment

The term hypoplastic left heart syndrome is used to describe a severely underdeveloped left heart and several other associated severe heart defects in newborns, most commonly involving the mitral and aortic valves. Survival after birth in these children is initially dependent on maintaining the prenatal short circuit between the pulmonary and systemic circulation via the … Hypoplastic Left Heart 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

Naegeli Syndrome: Causes, Symptoms & Treatment

Naegeli syndrome is a genetically caused disease. Naegeli syndrome is synonymously called Naegeli-Franceschetti-Jadassohn syndrome and is referred to by the abbreviation NFJ. Naegeli syndrome occurs exceedingly rarely in the general population. Basically, Naegeli syndrome is a disease of the skin characterized by pigmentary dermatosis of an anhidrotic reticular type. The disease term is derived from … Naegeli Syndrome: Causes, Symptoms & Treatment

Saethre-Chotzen Syndrome: Causes, Symptoms & Treatment

Saethre-Chotzen syndrome is a disease associated with craniosynostosis. Saethre-Chotzen syndrome is congenital, as the causes are genetic. The disease is referred to by the abbreviation SCS. The main symptoms of Saethre-Chotzen syndrome are synostosis of the cranial suture on one or both sides, ptosis, an asymmetrical face, unusually small ears, and strabismus. What is Saethre-Chotzen … Saethre-Chotzen Syndrome: Causes, Symptoms & Treatment

Thalassemia

Introduction Thalassemia is a hereditary disease of the red blood cells. It involves a defect in hemoglobin, an iron-containing protein complex responsible for the red blood cells’ ability to bind oxygen. It is not produced in sufficient quantities or is broken down in greater quantities, resulting in a haemoglobin deficiency. Depending on the severity of … Thalassemia

Prognosis | Thalassemia

Prognosis The prognosis of thalassemia is strongly dependent on the severity of the disease. Patients with mild forms can usually lead a normal life without major restrictions. In the severe form of the disease, the effectiveness of the therapy and any complications that arise are important. The prognostic prospects of the disease in the individual … Prognosis | Thalassemia

DeSanctis-Cacchione Syndrome: Causes, Symptoms & Treatment

DeSanctis-Cacchione syndrome, as a hereditary neurocutaneous syndrome, is characterized by a combination of severe photosensitivity and neurologic deficits. It is an increasingly progressive disease that leads to early death. Therapy consists of lifelong avoidance of sunlight. What is DeSanctis-Cacchione syndrome? DeSanctis-Cacchione syndrome represents a special form of xeroderma pigmentosum, a hereditary hypersensitivity to sunlight. The … DeSanctis-Cacchione Syndrome: Causes, Symptoms & Treatment