ECEESPE2025 Poster Presentations Bone and Mineral Metabolism (112 abstracts)
Pathways to facilitate early recognition and diagnosis of hypochondroplasia
Melita Irving 1 , Elena Greco 2 , Alessandra Cocca 3 , Andrew Dauber 4 , Alexander Jorge 5 , Svein Fredwall 6 , Amy Patterson 7 , Juan Llerena Jr 8 , Keiichi Ozono 9 , Rui Santos 3 , Dominique Kelly 10 , Elena Muslimova 10 , Tejaswini Reddi 10 , Renée Shediac 10 , Ravi Savarirayan 11 , V. Reid Sutton 12 , Julie Hoover-Fong 7 & Moira Cheung 13
1Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom; 2Women’s Health Research Unit, Wolfson Institute of Population Health, Queen Mary University London, London, United Kingdom; 3Evelina London Children’s Hospital, London, United Kingdom; 4Children’s National Hospital, Washington DC, United States; 5Universidade de São Paulo, São Paulo, Brazil; 6Sunnaas Rehabilitation Hospital & Oslo University Hospital Rikshospitalet, Oslo, Norway; 7Johns Hopkins University, Baltimore, United States; 8National Institute Fernandes Figueira, Rio de Janeiro, Brazil; 9ISEIKAI International General Hospital, Osaka, Japan; 10BridgeBio Pharma, San Francisco, United States; 11Murdoch Children’s Research Institute, Melbourne, Australia; 12Baylor College of Medicine & Texas Children’s Hospital, Houston, United States; 13Great Ormond Street Hospital, London, United Kingdom
JOINT1802
Background: Hypochondroplasia (HCH) is a disproportionate short statured skeletal dysplasia caused by gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR3) that lead to reduced endochondral bone growth. HCH typically becomes clinically apparent after the first year of life, when growth velocity begins to decline and height discrepancy widens relative to average height peers. Reaching an initial suspicion of HCH can be challenging due to wide phenotypic variability and subtle clinical and radiographic features, which in turn can lead to delayed or missed diagnosis. Early diagnosis may facilitate implementation of appropriate clinical management and psychosocial support. However, there are currently no standardized diagnostic criteria for HCH nor are diagnostic pathways well described in the literature.
Methods: In October 2024, 14 experts across multiple specialties (pediatric endocrinology, medical genetics, maternal fetal medicine, pediatrics, family medicine, radiology, genetic counseling) completed an online survey on current clinical practices for diagnosing HCH. A subset of participants convened to discuss strategies to optimize clinical diagnostic pathways. Insights and recommendations were refined by the collective group during the drafting of this communication.
Results: Sonographic features of HCH may be detectable prenatally from approximately 20 weeks’ gestation, becoming more pronounced in the third trimester, and typically include a short femur and a relatively larger head circumference. Prenatal diagnostic testing options include targeted FGFR3 analysis via non-invasive prenatal testing or multi-gene sequencing in DNA from invasive procedures such as amniocentesis, which also allows wider exploration of other skeletal dysplasias when diagnostic uncertainty exists. Postnatally, features suggesting HCH include a sustained fall in height centiles over the first two years, macrocephaly, seizures, and specific radiographic and neuroimaging findings. Between ages 2-3 years, a characteristic growth pattern including body disproportion with shortened limbs may become evident. Occasionally a history of learning differences may become apparent. HCH should be considered in the differential diagnosis of idiopathic or isolated short stature in children. Genetic testing for growth disorders using panels that include FGFR3 and evaluation of short statured parents are also useful to establish the diagnosis of HCH.
Conclusions: Early diagnosis of HCH is achievable by the detection of key clinical and radiological features and supported by molecular analysis using different diagnostic platforms. Timely diagnosis may enable interventions to reduce complications and potentially enhance vertical growth in the future. This work represents an important initial step towards consensus-based diagnostic criteria and guidelines for HCH.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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