Caudal regression syndrome characterizes a malformation syndrome of the lower (caudal) spinal segments, sometimes with a very severe but variable appearance. In many cases, sections of the caudal spine such as the coccyx and areas of the lumbar spine are missing. The condition is multifactorial and usually develops within the first four weeks of pregnancy. … Caudal Regression 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
Johanson-Blizzard syndrome is the name given to a hereditary disease that is rare. Affected individuals suffer from developmental abnormalities of the pancreas, scalp and nose. What is Johanson-Blizzard syndrome? Johanson-Blizzard Syndrome (JBS) is a rare inherited disorder that can sometimes be fatal. The syndrome is also considered ectodermal dysplasia and is classified as a pancreatic … Johanson Blizzard 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
Cat’s eye syndrome is the name given to a rare hereditary disease. Among other things, it causes changes in the eyes. What is cat eye syndrome? In medicine, cat’s eye syndrome is also known as coloboma anal atresia syndrome or Schmid-Fraccaro syndrome. In this hereditary disease, eye changes (coloboma) and malformations of the rectum (anal … Cats Eye Syndrome: Causes, Symptoms & Treatment
Sirenomelia is a malformation of the lower half of the fetus‘ body, beginning with the pelvic area and ending with the feet. It is also called symmelia, sympodia, or simply mermaid syndrome. The ICD-10 classification is Q47.8. What is sirenomelia? Sirenomelia is characterized by a deformity of the legs and feet. These are, depending on … Sirenomelia: Causes, Symptoms & Treatment
Duodenal stenosis is a narrowing of the small intestine. It is usually congenital, but it can also be acquired. What is duodenal stenosis? A stenosis is a narrowing of a hollow organ. In duodenal stenosis, the small intestine, or more specifically the duodenum, is affected by the stenosis. Duodenal stenosis is also often referred to … Duodenal Stenosis: Causes, Symptoms & Treatment
Verma-Naumoff syndrome belongs to a group of congenital disorders characterized by malformations of bone and cartilage tissue. The prognosis of the disease is always lethal. The syndrome is genetic and is inherited in an autosomal recessive manner. What is Verma-Naumoff syndrome? Verma-Naumoff syndrome is a genetic disorder of bone and cartilage tissue. It is characterized … Verma-Naumoff Syndrome: Causes, Symptoms & Treatment
Dubowitz syndrome is a rare inherited disorder that is associated with symptoms such as short stature and facial deformities. The condition was named after British pediatric neurologist Victor Dubowitz. What is Dubowitz syndrome? Victor Dubowitz first described Dubowitz syndrome in 1965. The disorder is an autosomal recessive [[hereditary diseases|hereditary disease[[ that is rather rare. Currently, … Dubowitz Syndrome: Causes, Symptoms & Treatment
Currarino syndrome is a symptomatic triad of anorectal and sacral abnormalities with presacral masses. The syndrome is a hereditary disorder commonly associated with a mutation of the MNX1 gene and caused by defective separation of the ento and neuroectoderm. Causal therapies do not exist. What is currarino syndrome? The medical term triad refers to a … Currarino Syndrome: Causes, Symptoms & Treatment
Anal atresia is a malformation of the human rectum. In this case, the opening of the anus is missing or is not created correctly. What is anal atresia? Anal atresia is the name given to a malformation of the human rectum. In this case, the opening of the anus is missing or is not created … Anal Atresia: Causes, Symptoms & Treatment
Elschnig syndrome is a very rare hereditary disorder with congenital malformations of the eyelids. However, the severity of symptoms often varies widely. Treatment is symptomatic and depends on the malformations that occur. What is Elschnig syndrome? Elschnig syndrome is mainly characterized by malpositions of the lower eyelids. In rarer cases, other symptoms also appear, such … Elschnig Syndrome: Causes, Symptoms & Treatment
