Hypochondroplasia

Treatment depends on the symptoms seen in each child. In some cases, stature is almost normal when compared with the stature of other family members. When necessary, treatment may include:^[1]

• Developmental intervention and special education for learning disabilities
• A surgery called laminectomy or a procedure known as decompression which can take pressure off the spinal nerves or spinal canal in cases of spinal stenosis (narrowing of the spine)
• Growth hormone therapy at around the time of puberty (this has shown mixed results)

Support groups can help individuals with hypochondroplasia and their family members adapt to short stature through peer support. They can also offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars.^[1] Please see the contact information for support groups for hypochondroplasia.

Sometimes, children with hypochondroplasia are more severely affected, and have very similar features to those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. See also a description of the management of achondroplasia.^[1]

A consultation with a genetic doctor for genetic counseling is also recommended so that there can be discussion of issues such as risk of recurrence and parental concerns related to short stature.

Some affected children with severe short stature and disproportion of the body may respond to growth hormone (GH) therapy with an increase in spinal length. This along with a surgical leg-lengthening procedure may make it possible for some individuals to reach adult heights within the normal range.

Some children who have proportionate short stature and hypochondroplasia do not increase their growth rate at puberty. Others seem to grow normally during puberty. However, there is no way of predicting who will undergo a normal growth spurt during puberty. Therefore, affected individuals may be monitored during childhood and given GH treatment only if they fail to develop a growth spurt at puberty. Severe cases may occasionally need treatment before puberty.^[2]