Rare Endocrinology News

Disease Profile

RHYNS syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

-

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia; Retinitis pigmentosa syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases

Summary

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.

Symptoms

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.

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

Organizations

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 Providing General Support

    Learn more

    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.