Coffin-Lowry syndrome



What is Coffin-Lowry syndrome?

Coffin–Lowry syndrome as stated is a genetic medical condition which is X-linked dominant and causes severe mental retardation along with severe growth abnormalities, cardiac issues, kyphoscoliosis, as well as hearing and visual disorders. This condition is characterized by intellectual disability, short stature, musculoskeletal abnormalities, and sudden onset of recurrent muscle weakness. Symptoms are usually more severe in males than females.

How common is Coffin-Lowry syndrome?

Coffin-Lowry syndrome is not common. Please discuss with your doctor for further information.


What are the symptoms of Coffin-Lowry syndrome?

The common symptoms of Coffin-Lowry syndrome are:

  • Abnormal diaphysis morphology
  • Abnormal form of the vertebral bodies
  • Abnormality of dental morphology
  • Anteverted nares
  • Brachydactyly
  • Broad finger
  • Coarse facial features
  • Craniofacial hyperostosis
  • Delayed skeletal maturation
  • Depressed nasal bridge
  • Downslanted palpebral fissures
  • Epicanthus
  • Everted lower lip vermilion
  • Frontal bossing
  • Hypertelorism
  • Hypodontia
  • Intellectual disability
  • Joint hyperflexibility
  • Kyphosis
  • Large hands
  • Muscular hypotonia
  • Neurological speech impairment
  • Open mouth
  • Pectus carinatum
  • Pectus excavatum
  • Scoliosis
  • Severe global developmental delay
  • Short stature
  • Tapered finger
  • Thick lower lip vermilion
  • Thick nasal alae
  • Widely spaced teeth
  • Feeding difficulties in infancy
  • Gait disturbance
  • High palate
  • Hyperconvex fingernails
  • Hypoplasia of the maxilla
  • Hypoplastic fingernail
  • Microcephaly
  • Narrow iliac wings
  • Narrow palate
  • Pes planus
  • Progressive spasticity
  • Protruding ear
  • Pseudoepiphyses of the metacarpals
  • Redundant skin
  • Short distal phalanx of finger
  • Short metacarpal
  • Ventriculomegaly
  • Wide mouth
  • Wide nose
  • Abnormality of neuronal migration
  • Abnormality of retinal pigmentation
  • Abnormality of the aortic valve
  • Abnormality of the mitral valve
  • Abnormality of the tricuspid valve
  • Advanced eruption of teeth
  • Aplasia/Hypoplasia of the cerebellum
  • Aplasia/Hypoplasia of the corpus callosum
  • Cataract
  • Cerebral cortical atrophy
  • Death in early adulthood
  • Delayed eruption of teeth
  • Muscle weakness
  • Optic atrophy
  • Seizures
  • Self-injurious behavior
  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Sleep apnea
  • Strabismus

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Coffin-Lowry syndrome?

Majority of the people suffering from Coffin-Lowry syndrome have a mutation in the RPS6KA3 gene which is present in the short arm of chromosome X. The function of this gene is to control production of RSK2 protein. This protein controls activities of other genes which is extremely essential for nerve cell survival. It also plays an important role in hearing and memory of a person. The mutation in RPS6KA3 gene results in a deficiency in the production of the RSK2 protein causing Coffin–Lowry Syndrome.

Risk factors

What increases my risk for Coffin-Lowry syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Coffin-Lowry syndrome diagnosed?

The diagnosis of Coffin–Lowry syndrome is made based on the signs and symptoms of the disease. Skeletal x-rays are done to identify other characteristics of this disorder. The x-ray findings may reveal inadequate skeletal maturity, increased skull thickness, abnormally large sinuses, narrowed pelvis, and other abnormalities of the musculoskeletal system. Genetic testing also to look for mutation in the RPS6KA3 also confirms the diagnosis of Coffin–Lowry syndrome.

How is Coffin-Lowry syndrome treated?

As of now, there is no clear cut cure for Coffin–Lowry syndrome and treatment is aimed at controlling symptoms of this disease and providing measures to reduce disability. Any cardiac abnormality needs to be identified and treated at its earliest so close cardiac monitoring is required for people with Coffin–Lowry syndrome. Routine x-ray examinations should also be done to check on the status of the spine. If spinal abnormalities become too visible then a corset may be required.

Apart from this, regular neurological examinations should be carried out to check on the growth status of the individual.

Regular ophthalmologic and auditory evaluations should also be done to check on the status of vision and hearing and treat any abnormalities if present. If required, hearing aids can also be given to help with hearing impairment.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Coffin-Lowry syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: January 26, 2018 | Last Modified: January 29, 2018