Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs

Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH-related short stature, which can adversely affect quality of life. This study aime...

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Bibliographic Details
Published in:	Molecular genetics & genomic medicine Vol. 13; no. 11; pp. e70151 - n/a
Main Authors:	Oehrlein, Elisabeth M., Pekala, Reni, Cavallaro, Stacie, Cho, Margaret, Crews, Chandler, Dauber, Andrew, Saxena, Ankita, Vandigo, Joe, Reese, Emily S.
Format:	Journal Article
Language:	English
Published:	United States John Wiley & Sons, Inc 01.11.2025 Wiley
Subjects:	Adolescent Adult Bone and Bones - abnormalities Bone dysplasia Caregivers Caregivers - psychology Cartilage - abnormalities Child Child, Preschool Children Children & youth Convulsions & seizures Data collection Dwarfism - diagnosis Dwarfism - psychology Dwarfism - therapy Endocrine therapy Epilepsy Families & family life Female Focus groups Growth hormones Hearing loss Humans Hypochondroplasia Interviews Learning Learning disabilities Limb Deformities, Congenital - diagnosis Limb Deformities, Congenital - psychology Limb Deformities, Congenital - therapy Lordosis - diagnosis Lordosis - psychology Lordosis - therapy Male Parents & parenting patient‐centered research patient‐focused drug development Pregnancy Qualitative research Quality of Life Seizures skeletal dysplasia Skeleton Sleep apnea Surgery Young Adult Young adults patient‐centered research patient‐focused drug development qualitative research hypochondroplasia skeletal dysplasia
ISSN:	2324-9269, 2324-9269
Online Access:	Get full text
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