Presentation
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006;174:923–7. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Frontal Bossing
Synonyms Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia Overview No overview is available at this time. Please check back for future updates. For more information, visit GARD. [rarediseases.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia See more Don’t fight Akaba Hayasaka syndrome [rareguru.com]
National Center for Advancing Translational Sciences Home Browse by Disease Akaba Hayasaka Syndrome Akaba Hayasaka Syndrome Other Names: Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromeliaFrontal [rarediseases.info.nih.gov]
Treatment
The following resources can be used to stay informed about new treatments and research results related to a rare disease: PubMed PubMed is a database of published research articles. [rarediseases.info.nih.gov]
Treatment of neuroblastoma in CCHS and a PHOX2B polyalanine repeat expansion mutation: new twist on neurocristopathy syndrome. Pediatr Blood Cancer. 2015;62:2007–10. [ncbi.nlm.nih.gov]