June 12 has been designated as Lamb-Shaffer Syndrome Awareness Day, a rare genetic disorder caused by changes in the SOX5 gene. The symbolic date—12/6—was chosen because the SOX5 gene is located on chromosome 12.

Lamb-Shaffer Syndrome is characterized by developmental delays, speech difficulties, mild to moderate intellectual disability, and subtle facial features (e.g., broad nose, thin upper lip, small jaw, strabismus).

Other possible symptoms include behavioral disorders, signs of autism spectrum disorder, skeletal anomalies (such as scoliosis), and rare seizures. Pregnancy and delivery are typically normal, and the first symptoms usually appear in early childhood.

Diagnosis is confirmed through genetic testing. There is no specific cure, so early intervention, developmental support, and individualized care are essential.

Life expectancy is usually not reduced, and the severity of symptoms varies from person to person.

This day is dedicated to raising awareness, educating the public, and supporting families affected by this rare syndrome. The goal is to foster understanding, acceptance, and the strengthening of the community facing the challenges this condition brings.

This content was developed with the financial support of the Ministry of Health. The content of this document is the sole responsibility of the Croatian Alliance for Rare Diseases and can under no circumstances be regarded as reflecting the views of the Ministry of Health.