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Disease Profile

Richards-Rundle 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.

Unknown

Age of onset

Infancy

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ICD-10

G60.2

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)

RRS; Ataxia-deafness-retardation syndrome with ketoaciduria; Familial ataxia-hypogonadism syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 1399

Definition
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.

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
Ataxia
0001251
Distal amyotrophy
Distal muscle wasting
0003693
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypergonadotropic hypogonadism
0000815
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline

[ more ]

0001268
30%-79% of people have these symptoms
Hyperreflexia
Increased reflexes
0001347
Hypertonia
0001276
Ketonuria
0002919
5%-29% of people have these symptoms
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Percent of people who have these symptoms is not available through HPO
Absence of secondary sex characteristics
0008187
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Areflexia
Absent tendon reflexes
0001284
Atrophy of the spinal cord
Degeneration of the spinal cord
0006827
Autosomal recessive inheritance
0000007
Global developmental delay
0001263
Hypogonadism
Decreased activity of gonads
0000135
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Mutism
Inability to speak
Muteness

[ more ]

0002300
Pes cavus
High-arched foot
0001761
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Primary amenorrhea
0000786
Progressive
Worsens with time
0003676
Sensorineural hearing impairment
0000407
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762

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 Richards-Rundle syndrome. Click on the link to view a sample search on this topic.