Sotos Syndrome: Causes, Symptoms & Treatment

Sotos syndrome is a rare genetic disorder. It is characterized by accelerated body growth and somewhat delayed motor and language development in childhood. In adulthood, the typical symptoms are hardly noticeable. What is Sotos syndrome? Sotos syndrome represents a sporadically occurring rare malformation syndrome. In this condition, accelerated growth with disproportionate skull circumference (macrocephalus) and … Sotos 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

Pallister-Killian Syndrome: Causes, Symptoms & Treatment

Pallister-Killian syndrome is a hereditary disease that leads to various anatomical abnormalities. In Germany and surrounding countries, only 38 cases of the syndrome are currently known. Thus, Pallister-Killian syndrome is a very rare disease. What is Pallister-Killian syndrome? Pallister-Killian syndrome, also called Teschler-Nicola syndrome or tetrasomy 12p mosaic, is a genetically inherited disorder. The syndrome … Pallister-Killian Syndrome: Causes, Symptoms & Treatment

Okihiro Syndrome: Causes, Symptoms & Treatment

Okihiro syndrome is a complex of malformations that primarily affect the upper extremities. Associated with these malformations is a condition called Duane’s anomaly, which prevents patients from looking outward. Treatment is purely symptomatic and usually consists of surgical correction of the individual symptoms. What is Okihiro syndrome? Malformation syndromes are congenital disorders that manifest as … Okihiro Syndrome: 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