Amish, Mennonite, and Hutterite
Genetic Disorder Database

Congenital Central Hypoventilation Syndrome

Disorder
OMIM #:
Disorder: Congenital Central Hypoventilation Syndrome 
Also known as: CCHS 
Clinical
Phenotype: Corneal clouding, epibulbar dermoid, polyhydramnios, dolichpcephaly, prominent occiput, widely seperated sagittal sutures, open metopic suture, deep set small eyes, horizontal crease over nasal bridge, low set posteriorly rotated ears, bulbous nose, loose skin, brachydactyly, lethal in first year of life 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: Personal communication - Dr. V. Siu 
Mutations
Unknown
Last updated: 2014-10-06 

References

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