About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Coffin-Lowry Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips
Advertisement

Coffin-Lowry Syndrome

Written by Anil Golani | Medically Reviewed by dr. simi paknikar, MD on Aug 06, 2021
Font : A-A+

What is Coffin-Lowry Syndrome?

Coffin-Lowry Syndrome is a rare genetic disorder affecting several parts of the body.

Advertisement

It is characterized by skeletal anomalies, intellectual disability and episodes of collapse on hearing sudden loud noise or when excited. It affects males more severely as compared to females.

What are the Causes of Coffin-Lowry Syndrome?

Coffin-Lowry syndrome is caused by a mutation in the RPS6KA3 gene found on the X chromosome. The defective gene results in the defect in a protein, which is involved in several important functions of the body including in the brain.

The type of inheritance in Coffin-Lowry Syndrome is called ‘X-linked dominant inheritance.’ The condition affects both males as well as females, though the syndrome is usually mild in females.

About 70-80% of affected individuals have no family history of this condition.

Advertisement

What are Symptoms of Coffin-Lowry Syndrome?

Severity of symptoms in patients with Coffin-Lowry syndrome is usually more in males than females. Typical facial features in affected males can be easily identified in late childhood and adulthood.

Facial features in affected individuals include the following:

  • Prominent forehead with thickened eyebrow ridges and narrowed temples
  • Few hair on the scalp
  • Wide-set eyes with thickened upper eyelids and downslanting eyelid slits
  • Broad nasal bridge having thick cartilage (septum)
  • Thick prominent lips with prominent chin and underdeveloped upper jaw
  • Prominent ears
  • Small head
  • Dental anomalies

Abnormalities in limb may include:

  • Large soft hands with thick fingers tapering toward the tips
  • Prominent transverse crease in the hand)
  • Short big toe
  • Shortening of long bones
Advertisement

Other abnormalities may include:

  • Short in height
  • Pointed or sunken breast bone
  • In spine, abnormal front-to-back and side-to-side curvature (kyphosis and scoliosis, respectively) may be present, which worsens with age.
  • Cardiac problems, hearing loss, vision loss, problems with speech
  • Mental retardation, which is often worse in males
Symptoms of Coffin Lowry Syndrome
  • Episodes of brief collapse without loss of consciousness (drop attacks) after an unexpected noise or emotional event. These are referred to as stimulus-induced drop episodes (SIDEs).

How is Coffin-Lowry Syndrome Diagnosed?

Diagnosis of Coffin-Lowry syndrome is based on the medical history of the patient, findings on physical examination, imaging tests, enzyme studies and gene testing.

X-ray and neuroimaging studies can diagnose the skeletal and other abnormalities. Genetic testing on blood sample or cells from cheek swab may reveal mutation in the RPS6KA3 gene.

Advertisement

How to Treat Coffin-Lowry Syndrome?

Treatment of Coffin-Lowry syndrome depends on the symptoms of the patient. The patient’s cardiac, hearing and eye functions should be regularly checked. Further, patients should also be monitored for progressive kyphoscoliosis that can be life threatening since a bent spine can affect breathing and cardiac function.

Treatment also involves physical and speech therapy and educational services. Clonazepam can be used to treat drop attacks. Other drugs like valproic acid and selective serotonin reuptake inhibitors have also been used. Genetic counselling can be helpful to patients and their families to understand the mode of inheritance and the chances of having a baby suffering from the condition.

Treatment of Coffin Lowry Syndrome

Health Tips

No cure is available for Coffin-Lowry Syndrome. But, specific symptoms, developmental delays and behaviors can be treated and addressed.

  • Appropriate vision and hearing testing needs to be done. Impaired hearing can be improved by hearing aids and cochlear implants.
  • Identification of heart defects and skeletal abnormalities at early stages should be done to prevent any serious complications later.
  • Neurological check-ups and growth monitoring, should be carried out at regular intervals.
  • Children with Coffin-Lowry syndrome must receive extensive dental check-up and preventive dental care. They should also have access to speech and language therapies.
  • To prevent SIDE episodes, affected people should be kept away from situations that could trigger attacks.
  • Contact with local authority and support groups should be maintained to obtain help quickly whenever necessary.
  1. Coffin Lowry Syndrome - (https://rarediseases.org/rare-diseases/coffin-lowry-syndrome/)
  2. About Coffin-Lowry syndrome - (http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome)
  3. Neurological Diseases & Disorders A-Z from NINDS - (http://www.brainfacts.org/diseases-disorders/diseases-a-to-z-from-ninds/coffin-lowry-syndrome/)

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Anil Golani. (2021, August 06). Coffin-Lowry Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips. Medindia. Retrieved on Dec 09, 2022 from https://www.medindia.net/patients/patientinfo/coffin-lowry-syndrome.htm.

  • MLA

    Anil Golani. "Coffin-Lowry Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips". Medindia. Dec 09, 2022. <https://www.medindia.net/patients/patientinfo/coffin-lowry-syndrome.htm>.

  • Chicago

    Anil Golani. "Coffin-Lowry Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips". Medindia. https://www.medindia.net/patients/patientinfo/coffin-lowry-syndrome.htm. (accessed Dec 09, 2022).

  • Harvard

    Anil Golani. 2021. Coffin-Lowry Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips. Medindia, viewed Dec 09, 2022, https://www.medindia.net/patients/patientinfo/coffin-lowry-syndrome.htm.

Latest Publications and Research on Coffin-Lowry Syndrome


Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Advertisement
Recommended Reading
Advertisement
Health Topics A - Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



    Advertisement
    Drugs for Coffin-Lowry Syndrome
    Clonazepam
    Valproic Acid
    What's New on Medindia
    Get Involved and Stand Up for Human Rights on Human Rights Day 2022
    Coronary Artery Bypass Grafting
    Macronutrients Calculator for Weight Loss
    View all

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    Calculate Ideal Weight for Infants Accident and Trauma Care How to Reduce School Bag Weight - Simple Tips Sanatogen Iron Intake Calculator Blood Pressure Calculator Turmeric Powder - Health Benefits, Uses & Side Effects Indian Medical Journals Vent Forte (Theophylline) Hearing Loss Calculator
    This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close