Sensenbrenner Syndrome: Causes, Symptoms & Treatment

Sensenbrenner syndrome is a genetic disorder that is extremely rare. Sensenbrenner syndrome is characterized by a variety of anatomical and functional defects. Currently, there are fewer than 20 known cases of Sensenbrenner syndrome. A first description of Sensenbrenner syndrome was given in 1975. What is Sensenbrenner syndrome? Sensenbrenner syndrome is an inherited disorder, with an … Read more

Caudal Regression Syndrome: Causes, Symptoms & Treatment

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. … Read more

Becker-Kiener Type Muscular Dystrophy: Causes, Symptoms & Treatment

Becker-Kiener type muscular dystrophy is a genetic disease of the muscles. The disease progresses at a slow rate and is gradually associated with increasing weakness of the muscles. Basically, muscular dystrophy type Becker-Kiener occurs relatively rarely. The incidence is about 1:17,000, and the disease occurs primarily in male patients. The initial manifestation of the disease … Read more

Fine Ultrasound: Treatment, Effects & Risks

As part of prenatal diagnostics, an examination of the child in the womb, further diagnostics may become necessary. This is done by means of fine ultrasound, a special sonographic examination that enables the physician to follow up on indications of a possible developmental disorder of the child or physical abnormalities. What is fine ultrasound? As … Read more

Kleine-Levin Syndrome: Causes, Symptoms & Treatment

Kleine-Levin syndrome is an episodic recurrent hypersomnia characterized by increased sleepiness, perceptual disturbances, and paradoxical waking behaviors. Presumably, a central nervous cause is present. To date, there is no established treatment option because of its low prevalence. What is Kleine-Levin syndrome? The medical profession knows Kleine-Levin syndrome as periodic hypersomnia in childhood or adolescence. More … Read more

Omphalocele: Causes, Symptoms & Treatment

An omphalocele, a hernia of the base of the umbilical cord, develops intrauterine and occurs as a congenital malformation in newborns. In this case, individual organs are anterior to the abdominal cavity and are enclosed by an omphalocele sac. There is a risk of rupture. What is an omphalocele? An omphalocele or exomphalos is the … Read more

Brachydactyly: Causes, Symptoms & Treatment

The medical term brachydactyly describes shortened fingers and toes. This condition, usually inherited in an autosomal dominant manner, belongs to the group of malformed limbs. What is brachydactyly? This genetic defect occurs either in isolation or syndromically. The course may have a primary or a secondary cause. It is additionally characterized by bony dysostosis. Only … Read more

Retinal Dysplasia: Causes, Symptoms & Treatment

So-called retinal dysplasia is a pathological malformation of the human retina. In most cases, it is a genetic condition. Retinal dysplasia is often manifested by the appearance of gray lines or dots in focus, distortion of areas, or retinal detachment. What is retinal dysplasia? Hereditary retinal dysplasia is based on defective development of the retina … Read more

Partington Syndrome: Causes, Symptoms & Treatment

Partington syndrome is a congenital disorder that manifests in specific leading symptoms. For example, Partington syndrome is associated with mental retardation, dystonic movements of the hands, and dysarthria. Intellectual abilities are only mildly to moderately impaired in Partington syndrome. Partington syndrome represents an x-linked inherited disorder. What is Partington syndrome? Partington syndrome is enormously rare. … Read more

Flynn-Aird Syndrome: Causes, Symptoms & Treatment

Flynn-Aird syndrome is a rare malformation syndrome of the central nervous system, also known as hereditary neuroectodermal syndrome. The cause of the symptoms is a genetic disorder during embryonic development. A causal therapy is not yet available. What is Flynn-Aird syndrome? Flynn-Aird syndrome is a symptom complex belonging to the group of malformation syndromes. The … Read more

Johanson Blizzard 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 … Read more

Jones Syndrome: Causes, Symptoms & Treatment

Jones syndrome is a heriditary fibromatosis associated with connective tissue growths on the gums and bilateral progressive sensorineural hearing loss. The connective tissue growths are treated surgically. If hearing loss is present, a cochlear implant can restore hearing. What is Jones syndrome? Hereditary gingival fibromatosis refers to a group of congenital disorders characterized by the … Read more