Orphanet: RAPADILINO Syndrome
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Scan day: 06 February 2014 UTC
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Description: Portal for information on this rare disorder.
The portal for rare diseases and orphan drugs RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified. Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. RAPADILINO syndrome is transmitted in an autosomal recessive manner and is caused by mutations of the
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WEBSITE Info
| Page title: | Orphanet: RAPADILINO syndrome |
| Keywords: | Orphanet,rare disease, rare diseases, orphan drug, orphan drugs, genetic disease, genetic diseases, rare disorder, rare disorders |
| Description: | The portal for rare diseases and orphan drugs |
| IP-address: | 194.167.41.5 |
WHOIS Info
| NS | Name Server: NS1.ORPHA.NET Name Server: NS2.ORPHA.NET |
| WHOIS | Status: ok |
| Date | Creation Date: 03-apr-2000 Expiration Date: 03-apr-2014 |