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Summary of This Article
Ring Chromosome 14 Syndrome is a rare genetic disorder in which chromosome 14 forms a ring structure. The main symptoms include developmental delay, intellectual disability, epilepsy, and distinctive facial features. Diagnosis is made through chromosomal testing. Treatment mainly focuses on symptomatic therapy, and prognosis varies among individuals. This condition cannot be detected by NIPT and requires a G-banding test.
Ring Chromosome 14 Syndrome is an extremely rare genetic disorder caused by a structural abnormality of chromosome 14.
What is Ring Chromosome 14?
Normally, chromosomes have a linear structure. In this syndrome, both ends of chromosome 14 are deleted, and the remaining ends join together to form a ring structure — the hallmark of this condition.
Cause
Ring Chromosome 14 Syndrome is caused by a spontaneous chromosomal abnormality involving the breakage and rejoining of chromosome 14. In most cases, it is not inherited from a parent.
Symptoms
Key symptoms include:
- Developmental delay: Delayed motor and intellectual development.
- Intellectual disability: Ranges from mild to severe.
- Epilepsy: Often presents with intractable seizures.
- Distinct facial features: May be noticeable in affected individuals.
- Other symptoms: Short stature, microcephaly, heart or kidney abnormalities, and autism spectrum disorder (ASD) may also occur.
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Diagnosis
The condition is diagnosed through chromosomal testing.
Treatment
There is currently no cure for Ring Chromosome 14 Syndrome. Treatment is symptomatic and supportive:
- Epilepsy: Managed with anti-epileptic drugs.
- Developmental delay: Requires rehabilitation and early intervention.
- Other symptoms: Treated by appropriate specialists.
Prognosis
Prognosis varies widely between individuals, depending on the severity of intellectual disability and presence of complications.
Information Sources
More detailed information can be found at:
- Rare & Intractable Disease Center (Japan): https://www.nanbyou.or.jp/
- Orphanet (Rare Disease Information): https://www.orpha.net/
These sites also provide resources for patient and family support groups.
Notes
This syndrome is extremely rare and information is limited. NIPT cannot detect this condition, as it results from a structural rather than quantitative chromosomal change. A G-banding karyotype test — an older cytogenetic method — is usually required for detection.
