Table 5.

Treatment of Manifestations in Individuals with Hypochondroplasia

Manifestation/
Concern		TreatmentConsiderations/Other
Short stature
  • Management is influenced by parental expectations & concerns.
  • Address parents' expectations & prejudices re child's height rather than attempting to treat child.
Adult height in hypochondroplasia is considerably greater than achondroplasia & functional limitations (e.g., operating an elevator, driving a car, using an automatic teller machine) usually less severe or not an issue.
Narrow
craniocervical
junction w/spinal
cord compression 		Referral to pediatric neurosurgeon to consider suboccipital decompression if neurologic status is affected by spinal cord compressionSee Achondroplasia for best predictors of need for suboccipital decompression.
Thoracolumbar
kyphosis 		Treatment if necessary per orthopedic surgeon
Genu varum Treatment if necessary per orthopedic surgeon
Spinal stenosis Laminectomy 1If severe signs &/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • No one ASM has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 2
DD/ID See Developmental Delay / Intellectual Disability Management Issues
Family/
Community 		Connect family with w/local resources & support (LPA)LPA can:
  • Assist w/adaptation to short stature through peer support, personal example, & social awareness programs;
  • Provide info on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, & parenting through local meetings, workshops, seminars, & a national newsletter.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; LPA = Little People of America, Inc.

1.

Thomeer & van Dijk [2002] determined that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression without laminectomy. The L2-L3 level most commonly required decompression.

2.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on nonmedical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Hypochondroplasia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.