Research

It is an acute and life-threatening functional disturbance of the heart with symptoms similar to a heart attack, and it really is not so rare: Takotsubo syndrome (TTS) is also called [...]

Mutations in the TELO2 gene were recently described as causing a syndrome characterized by developmental delay, microcephaly and dysmorphic features, which was then termed You-Hoover-Fong [...]

Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, [...]

In a collaborative study, researchers at the Departments of Urology and Experimental Endocrinology, the Institute of Pathology and the Institute of Human Genetics of the University Medical Center [...]

CAGSSS stands for a syndrome presenting with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss and skeletal dysplasia. It is a very rare disorder for which so [...]

Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous [...]

A plethora of factors act together in the cell to ensure that DNA is correctly duplicated and distributed to daughter cells during cell division. Scientists have now uncovered a new factor [...]

It is an extremely rare congenital disease with a very striking appearance: When children are born with no nose or with incompletely developed nasal structures, they have a condition called [...]