Renpenning syndrome is a disorder that affects almost exclusively males, causing developmental delay, moderate to severe intellectual disability and distinguishing physical features. Individuals with Renpenning syndrome typically have a short stature and a small head size (microcephaly). Characteristic facial features of this disorder include a long narrow face; outside corners of the eyes pointing upwards (palpebral fissures); a long bulbous nose, with a low-hanging separating the nostrils (hanging columella); a small space between the nose and mouth (prominent); and cup-shaped ears. Males Renpenning syndrome usually have small testes. Seizures and waste away (atrophy) of the muscles used for movement (skeletal muscles) may also occur in this disorder.
About 20 percent of people with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), cardiac anomalies or malformations of the anus.
Certain combinations of features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
These resources address the diagnosis or management of Renpenning syndrome and may include providers of treatment.
You may also find information about the diagnosis or management of Renpenning syndrome in patient support and educational resources.
To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.
The following resources on Renpenning syndrome may be useful. These materials are written for the general public.
You may also be interested in these resources, which are designed for health professionals and researchers.
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The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.
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