C Syndrome: Causes, Symptoms & Treatment

C syndrome is a rare MCA/MR syndrome and is consequently associated with congenital multiple malformations as well as decreased intelligence. The exact causes of the syndrome are not fully understood, as only 40 cases have been described to date. Treatment is exclusively symptomatic, with parents usually assisted by a psychologist. What is C syndrome? Syndromes … C Syndrome: Causes, Symptoms & Treatment

Heterotaxy: Causes, Symptoms & Treatment

Heterotaxy is characterized by a side-to-side arrangement of body organs in the abdomen. Symptoms of this disorder vary quite a bit depending on the location of the organs, ranging from asymptomatic to severe life-threatening cardiac abnormalities. What is heterotaxy? Heterotaxy is not a disease in its own right, but represents a symptom complex of certain … Heterotaxy: Causes, Symptoms & Treatment

Knee Dysplasia: Causes, Symptoms & Treatment

Knee dysplasia is a congenital developmental disorder of the skeleton that results from a genetic mutation and is characterized by severe short stature. The prognosis depends on the severity in each individual case. Causal therapies are not yet available. What is knee dysplasia? Spondylometaepiphyseal dysplasia manifests in growth and associated gait disturbances from about the … Knee Dysplasia: Causes, Symptoms & Treatment

Atelosteogenesis: Causes, Symptoms & Treatment

Atelosteogenesis is a rare, incurable skeletal malformation caused by a genetic defect. Affected individuals usually die in the first few days after birth; a favorable course results in numerous physical malformations. What is atelosteogenesis? Atelosteogenesis is a so-called dysplasia, a congenital malformation of the skeleton. The term is composed of the ancient Greek words “atelos” … Atelosteogenesis: Causes, Symptoms & Treatment

RAPADILINO Syndrome: Causes, Symptoms & Treatment

RAPADILINO syndrome is a malformation syndrome with the leading symptoms of short stature and skeletal malformation. The syndrome is based on a hereditary mutation. Therapy of the incurable disease is symptomatic. What is RAPADILINO syndrome? Some congenital malformation syndromes are predominantly associated with short stature. One of these syndromes is RAOADILINO syndrome, whose name is … RAPADILINO Syndrome: Causes, Symptoms & Treatment

Polyhydramnios: Causes, Symptoms & Treatment

Depending on the pregnant woman, polyhydramnios can take different forms. Medical treatment is not always necessary. What is polyhydramnios? Polyhydramnios (also called hydramnios or polyhydramnios) is when a pregnant woman has a higher than average amount of amniotic fluid. The medical definition of polyhydramnios is based on the so-called amniotic fluid index (AFI) – if … Polyhydramnios: Causes, Symptoms & Treatment