What is Baller Gerold syndrome?
General Discussion. Baller-Gerold syndrome (BGS) is a rare genetic disorder that is apparent at birth (congenital). Common features of BGS include a distinctive misshaped appearance of the skull, facial (craniofacial) area and bones of the forearms and hands.
What causes Carpenter syndrome?
Most cases are caused by mutations in the RAB23 gene. In several affected individuals, Carpenter syndrome was caused by mutations in the MEGF8 gene; these individuals are referred to as having Carpenter syndrome type 2. Both types of Carpenter syndrome are inherited in an autosomal recessive manner.
What is BGS in medical terms?
Baller–Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. The symptoms of Baller–Gerold syndrome overlap with features of a few other genetics disorders: Rothmund–Thomson syndrome and RAPADILINO syndrome.
What are the symptoms of Carpenter syndrome?
What are the symptoms of Carpenter syndrome in children?
- Misshapen head: short from front to back, long and narrow from top to bottom.
- Fused or webbed, extra or unusually short fingers and toes.
- Facial deformities including abnormally formed eye sockets, flat nasal bridge, small upper or lower jaw.
- Misshapen, low-set ears.
Can Carpenter syndrome be cured?
The treatment of Carpenter syndrome is focused on correction of the abnormal skull shape. It is the same as the treatment of craniosynostosis. Surgical correction of the craniosynostosis associated with Carpenter syndrome is most often initiated between 6 and 12 months of age.
What is the treatment for Proteus syndrome?
There is no specific treatment for Proteus syndrome. The condition should be managed by identifying early any serious medical problems and providing prophylactic and symptomatic treatment. A multidisciplinary team of doctors is required to manage Proteus syndrome.
How long do people with Proteus syndrome live?
Life expectancy is 9 months to 29 years, according to “Radiologic manifestations of Proteus syndrome” published in the Radiological Society of North America journal RadioGraphics.