What causes Hallermann-Streiff syndrome?
In almost all reported cases, Hallermann-Streiff syndrome has occurred randomly for unknown reasons (sporadically), most likely due to a new spontaneous dominant genetic change (mutation). There have been reports of patients with this disorder reproducing successfully and bearing multiple normal children.
What is hellerman syndrome?
HSS is a rare disease. It is characterized by bird-like face, dental abnormalities, hypotrichosis, atrophy of skin, proportionate nanism, congenital cataracts and bilateral microphthalmia[1]. HSS was initially noted in 1983, however the description was not complete.
What syndrome causes close set eyes?
Overview. Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Is Hallermann Streiff syndrome fatal?
The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.
What is Donna Barrow syndrome?
A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability.
Does Hallermann Streiff syndrome affect intelligence?
The syndrome can be associated with sleep apnea. The physical characteristics of the syndrome can result in difficult intubation by medical professionals. Intelligence is usually normal.
What is van der Woude syndrome?
What is Van der Woude syndrome? Patient with cleft lip and palate as well as lower lip pits, characteristic of Van der Woude syndrome. Van der Woude syndrome is a rare genetic disorder characterized by various structural deformities of the mouth. The disorder affects between 1 and 3 children in every 100,000.
What is Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome is a genetic disorder commonly characterized by overgrowth. The severity of this disorder varies widely in children and is usually recognized at birth, when a child is born with several features of Beckwith-Wiedemann syndrome. However, few children have all the associated characteristics.