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Ring Chromosome 10 Syndrome

Last updated April 28, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Ring Chromosome 10 Syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described.


What are the other Names for this Condition? (Also known as/Synonyms)

  • R10 Syndrome
  • Ring 10 Syndrome

What is Ring Chromosome 10 Syndrome? (Definition/Background Information)

  • Ring Chromosome 10 Syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described
  • The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum
  • Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases

(Source: Ring Chromosome 10 Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Ring Chromosome 10 Syndrome? (Age and Sex Distribution)

  • Ring Chromosome 10 Syndrome is an extremely rare congenital disorder with only about 20 cases reported in the medical literature
  • The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ring Chromosome 10 Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Ring Chromosome 10 Syndrome can be inherited
  • Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ring Chromosome 10 Syndrome? (Etiology)

The exact cause of development of Ring Chromosome 10 Syndrome is presently unknown.

What are the Signs and Symptoms of Ring Chromosome 10 Syndrome?

The signs and symptoms of Ring Chromosome 10 Syndrome may include: (Very frequently present symptoms in 80-99% of the cases)

  • Abnormality of the antihelix
  • Aganglionic megacolon
  • Cachexia
  • Downslanted palpebral fissures
  • Frontal bossing
  • Hypertelorism
  • Hypocalcemia
  • Intellectual disability
  • Intrauterine growth retardation
  • Large earlobe
  • Long philtrum
  • Low-set ears
  • Micrognathia
  • Microphthalmia
  • Muscular hypotonia
  • Pectus excavatum
  • Renal hypoplasia/aplasia
  • Sandal gap
  • Short neck
  • Seizures
  • Tapered finger
  • Thin vermilion border
  • Wide intermamillary distance
  • Wide nasal bridge

Occasionally present symptoms in 5-29% of the cases: Dysarthria

(Source: Ring Chromosome 10 Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ring Chromosome 10 Syndrome Diagnosed?

Ring Chromosome 10 Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ring Chromosome 10 Syndrome?

The complications of Ring Chromosome 10 Syndrome may include:

  • Severe malnutrition
  • Kidney abnormalities
  • Intellectual deficit

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ring Chromosome 10 Syndrome Treated?

There is no cure for Ring Chromosome 10 Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Ring Chromosome 10 Syndrome be Prevented?

Currently, Ring Chromosome 10 Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Ring Chromosome 10 Syndrome? (Outcomes/Resolutions)

  • The prognosis of Ring Chromosome 10 Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ring Chromosome 10 Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 28, 2018
Last updated: April 28, 2018