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

Hi,

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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.