Ear, patella, short stature syndrome
Ear, Patella, Short Stature Syndrome Ear, Patella, Short Stature Syndrome (EPS) is a rare genetic disorder characterized by a combination of ear anomalies, patellar aplasia or hypoplasia, and short stature. This condition is also known as Meier-Gorlin syndrome, named after the physicians who first described it.
Clinical Features[edit | edit source]
Individuals with EPS syndrome typically present with the following clinical features:
- Ear Anomalies: These may include small or malformed ears, which can sometimes lead to hearing loss.
- Patellar Aplasia or Hypoplasia: The absence or underdevelopment of the kneecaps (patellae) is a hallmark of this syndrome.
- Short Stature: Affected individuals often have significantly reduced height compared to their peers.
Other features may include microcephaly, skeletal abnormalities, and distinctive facial features.
Genetic Basis[edit | edit source]
EPS syndrome is primarily caused by mutations in genes involved in the DNA replication process. The most commonly implicated genes include:
These genes are crucial for the initiation of DNA replication, and mutations can disrupt normal cell division and growth, leading to the clinical manifestations of the syndrome.
Diagnosis[edit | edit source]
Diagnosis of EPS syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm mutations in the associated genes, providing a definitive diagnosis.
Management[edit | edit source]
Management of EPS syndrome is symptomatic and supportive. It may include:
- Hearing Aids: For those with hearing loss due to ear anomalies.
- Orthopedic Interventions: To address skeletal abnormalities and improve mobility.
- Growth Hormone Therapy: In some cases, to address short stature.
Prognosis[edit | edit source]
The prognosis for individuals with EPS syndrome varies depending on the severity of symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the molecular mechanisms underlying EPS syndrome and to develop targeted therapies. Advances in genetic research may lead to improved diagnostic techniques and potential treatments.
See Also[edit | edit source]
- Meier-Gorlin syndrome
- Genetic disorders
- Skeletal dysplasia
- Meier, E., & Gorlin, R. J. (Year). "Title of the original paper describing the syndrome." Journal Name, Volume(Issue), pages.
- Author(s). (Year). "Title of a relevant review article." Journal Name, Volume(Issue), pages.
External Links[edit | edit source]
- [Link to a reputable genetic disorder database]
- [Link to a patient support group or organization]
NIH genetic and rare disease info[edit source]
Ear, patella, short stature syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
