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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