Short stature in genetic syndromes: Selected issues

Area of Science:

• Pediatric Endocrinology
• Clinical Genetics
• Human Growth and Development

Background:

• Short stature is a common pediatric concern, defined as height below -2 standard deviations from the mean.
• Causes include constitutional delay, familial short stature, chronic diseases, and genetic syndromes.
• Genetic syndromes are a significant factor in pediatric short stature, necessitating careful diagnostic consideration.

Purpose of the Study:

• To provide a mini-review of frequent genetic syndromes associated with short stature.
• To aid clinicians in the differential diagnosis of pediatric short stature.
• To categorize genetic syndromes based on the presence or absence of intrauterine growth retardation (IUGR).

Main Methods:

• Literature review focusing on genetic syndromes causing short stature.
• Categorization of syndromes into two groups: those with IUGR and those without.
• Description of key anomalies associated with each reviewed syndrome.

Main Results:

• Identified frequent genetic syndromes associated with short stature.
• Classified syndromes based on intrauterine growth retardation (IUGR) status.
• Detailed the significant clinical anomalies for each syndrome.

Conclusions:

• Genetic syndromes are crucial considerations in the differential diagnosis of pediatric short stature.
• Understanding the presence or absence of IUGR aids in syndrome classification and diagnosis.
• This review offers a focused overview of key genetic causes of short stature, excluding metabolic and skeletal disorders.