Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (Orphanet code 391307) is an extremely rare genetic neurodevelopmental disorder characterized by a combination of severe intellectual disability, significant short stature, distinctive behavioral abnormalities, and recognizable facial dysmorphic features. This condition is also known as SNYDER-ROBINSON-like syndrome or has been described in association with mutations in the THOC6 gene (Beaulieu-Bherer syndrome). The syndrome primarily affects the central nervous system, skeletal system, and craniofacial structures. Affected individuals typically present in early childhood with pronounced developmental delay, limited or absent speech, and behavioral difficulties that may include features of autism spectrum disorder, hyperactivity, or self-injurious behavior. Facial dysmorphism may include features such as a broad forehead, deep-set eyes, a short nose, thin upper lip, and other distinctive craniofacial characteristics. Growth restriction leading to short stature is a prominent feature. Additional findings may include microcephaly and various congenital anomalies. Currently, there is no specific curative treatment for this syndrome. Management is supportive and multidisciplinary, involving developmental and behavioral therapies, speech therapy, educational support, and monitoring of growth. Genetic counseling is recommended for affected families to understand recurrence risks and inheritance patterns.

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