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.
Hi. 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: 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.