National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

RHYNS syndrome


Other Names:
Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia; Retinitis pigmentosa syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 140976

Definition
RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.

Epidemiology
So far, it has been described in four males.

Genetic counseling
Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2008

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the liver
Abnormal liver
Liver abnormality
[ more ] 		0001392
Hypopituitarism 0040075
Nephronophthisis 0000090
Ptosis
Drooping upper eyelid
0000508
Rod-cone dystrophy 0000510
30%-79% of people have these symptoms
Abnormality of body height 0000002
Abnormality of the acetabulum
Abnormality of the hipbone socket
0003170
Cranial nerve VI palsy 0006897
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypoplastic ilia 0000946
Multicystic kidney dysplasia 0000003
Osteopenia 0000938
Skeletal dysplasia 0002652
Small epiphyses
Small end part of bone
0010585
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Brachydactyly
Short fingers or toes
0001156
Chronic kidney disease 0012622
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Exotropia
Outward facing eye ball
0000577
Growth hormone deficiency 0000824
Pituitary hypothyroidism
Low thyroid gland function due to abnormal pituitary gland
0008245
Radial bowing
Bowing of outer large bone of the forearm
0002986
Short femoral neck
Short neck of thighbone
0100864
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ] 		0002684
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss RHYNS syndrome. Click on the link to view a sample search on this topic.

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