R4 syndrome

Introduction: R4 syndrome

Description of R4 syndrome

R4 syndrome (medical condition): A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.

See also:

Chromosome 4 ring syndrome:
  »Introduction: Chromosome 4 ring syndrome
  »Symptoms of Chromosome 4 ring syndrome
  »Treatments for Chromosome 4 ring syndrome

R4 syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

R4 syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that R4 syndrome, or a subtype of R4 syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

R4 syndrome as a Disease

R4 syndrome: Another name for Chromosome 4 ring syndrome (or close medical condition association).
  »Introduction: Chromosome 4 ring syndrome
  »Symptoms of Chromosome 4 ring syndrome
  »Treatments for Chromosome 4 ring syndrome

Symptoms of R4 syndrome (Chromosome 4 ring syndrome)

Some of the symptoms of R4 syndrome incude:

• Small head
• Small jaw
• Large ears
• Dysplastic ears
• Narrow ear canals

See full list of 34 symptoms of R4 syndrome (Chromosome 4 ring syndrome)

Treatments for R4 syndrome (Chromosome 4 ring syndrome)

Treatments for R4 syndrome (Chromosome 4 ring syndrome) include:

• Treatment varies considerable depending on the type and severity of symptom that develop
• Surgery may be needed to correct defects or abnormalities e.g. heart defects, skull and facial abnormalities
• Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
• Various other symptomatic and supportive measures
• Genetic counseling and joining a support group is recommended

Read more about treatments for R4 syndrome

Treatment of R4 syndrome: For more treatment information about R4 syndrome, see treatment of Chromosome 4 ring syndrome (R4 syndrome)

R4 syndrome: Related Disease Topics

These medical disease topics may be related to R4 syndrome:

• developmental delay
• neurological
• craniofacial
• skeletal
• genitourinary
• cutaneous anomalies
• Seckel syndrome
• Wolf-Hirschhorn syndromes

Terms associated with R4 syndrome:

Terms Similar to R4 syndrome:

• Ring 4 syndrome
• Ring 4, Chromosome
• Ring chromosome 4 syndrome
• Chromosome 4 ring syndrome
• (4)r syndrome

Source - NIH

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