ADVERTISEMENT
ADVERTISEMENT

Q. My friend's son has been diagnosed with hypochondroplasia. Kindly suggest the best treatment.

Answered by
Dr. Sirisha
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Feb 25, 2015 and last reviewed on: Dec 22, 2018

Hello doctor,

My friend's son has been diagnosed with hypochondroplasia. He is 11 months old. His height is 50 cm and weight is approximately 5 kg. Kindly suggest the best treatment.

ADVERTISEMENT
#

Hi,

Welcome to icliniq.com.

Hypochondroplasia is a rare and genetically inherited condition. It involves the skeletal system, and the child's height and weight are definitely low. And birth history (attachment removed to protect patient identity) also suggests some abnormality. What about the parents status, is anyone affected or are they normal? Very rare tests have been performed, and he has been examined at reputed institutes and already seen by a genetic specialist. The child needs a multispeciality/multidisciplinary approach:

  1. He might not reach normal height. There is no specific treatment for that. Growth hormone which we use in other conditions would not help him. There are some limb lengthening surgeries done later in life. These are complex surgeries which involve orthopedics and should be done in multispeciality setups. Some other movement restrictions can occur at elbows/knees, and these can be managed by orthopedicians and helped by physiotherapists.
  2. Enlarged head due to more fluid in the brain. This rarely requires surgery and can be done by a neurosurgeon. MRI brain does not show any such features now. If any symptoms appear, then probably he will need a repeat MRI.
  3. Fits occur in few children. This can be treated at any children's center and can be seen by a pediatrician or a neurologist.
  4. With respect to the development, special teaching/training programs might be required. Psychological support is needed as the child grows up, which can be rendered by a child psychologist/psychiatrist.
  5. Hearing problems are frequent and hence get regular check-ups done by an ent specialist/pediatrician who will guide you.

Unfortunately, there are no medications to cure this disease. Genetic disorders can affect many body systems. The best we can do is treat the symptoms that are caused. There are more severe forms of the disease which can be life-threatening. Hypochondroplasia is only a milder form.

Hope this information is helpful.


Was this answer helpful?

 | 

Same symptoms doesn’t mean you have the same problem. Consult a doctor now!



Related Questions:
My hematocrit, RBC, Hb, and mean cell volume are elevated. Please help.

.. and hematocrit values are slightly high. Your RBC count is only marginally elevated since the upper limit of normal is 5.5 million/cu.mm. With these values, there is a suspicion of you having hemochromatosis or an early stage of polycythemia vera....   Read full

Can any test determine if a person will have abnormal kids?

If you are referring to genetic analysis, then yes, some genetic testing can tell if the child is abnormal ... Some genetic testing can be done on the father, but yo...   Read full

Can a gay impregnate his wife?

.. if you have homosexual orientation even then you will be able to make your wife pregnant. No need to worry for that provided your sperms count is normal. Homosexuality does not have direct genetic inheritance. So, no need to get worried for that ...   Read full

ADVERTISEMENT

Also Read Answers From:

ideaComprehensive Medical Second Opinion.Submit your Case

Also Read


Management of Coronasomnia
Coronasomnia refers to increased sleep problems among people during the COVID-19 pandemic. Read the below article to get...  Read more»
Balantidiasis - Causes, Signs and Symptoms, Diagnosis, Treatment, and Prevention
Balantidiasis is a rare bacterial infection caused by a parasite called Balantidium coli. Read the article below to know...  Read more»
JAK Inhibitors in Treating Rheumatoid Arthritis
Doctors mainly suggest JAK or Janus kinase inhibitors for patients with rheumatoid arthritis to ease their symptoms. Rea...  Read more»

Ask your health query to a doctor online?

Ask a Paediatrician Now

* guaranteed answer within 4 hours.

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.