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Children with short-limbed short stature in pediatric endocrinological services in Japan
Kosei Hasegawa1, Hiroyuki Tanaka1,2
1Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Insights
Diagnosing short-limbed short stature is challenging, with FGFR3-related chondrodysplasias like achondroplasia being most common. Genetic testing is crucial, as clinical diagnosis alone can miss other underlying conditions.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Skeletal Dysplasias
Background:
- Short-limbed short stature is a complex condition with diverse causes, including bone disorders, metabolic diseases, and malformation syndromes.
- Accurate diagnosis is essential for appropriate management and treatment of these conditions.
Purpose of the Study:
- To investigate the prevalence and diagnostic challenges of short-limbed short stature in Japan.
- To evaluate the role of genetic testing in differentiating various causes of short-limbed short stature, particularly hypochondroplasia.
Main Methods:
- A questionnaire survey was distributed to pediatric endocrinologists across Japan.
- Retrospective analysis of clinical data from 193 patients with short-limbed short stature.
- Genetic analysis was performed on 25 patients clinically diagnosed with hypochondroplasia.
Main Results:
- FGFR3-related chondrodysplasias, including achondroplasia (56.5%) and hypochondroplasia (24.4%), were the most frequent diagnoses.
- Genetic testing revealed that only 10 of 25 patients diagnosed with hypochondroplasia had FGFR3 mutations; other conditions were identified.
- Clinical diagnosis alone was insufficient, highlighting the need for genetic confirmation.
Conclusions:
- Accurate diagnosis of short-limbed short stature requires both clinical evaluation and genetic testing.
- Current diagnostic strategies may misclassify conditions, emphasizing the need for improved diagnostic approaches.
- Development of specific diagnostic strategies for each disorder causing short-limbed short stature is recommended.
Abstract:
Short-limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short-limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short-limbed short stature patients, among whom FGFR3-related chondrodysplasia such as achondroplasia (n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia (n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR3 mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having "hypochondroplasia". In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and Aarskog-Scott syndrome were included in addition to FGFR3-related hypochondroplasia (n = 10). Clinical diagnosis of each disorder causing short-limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short-limb short stature. Diagnostic strategies must be created for each disorder.
