Shpritzen Goldberg syndrome

Shprintzen-Goldberg syndrome is an extremely rare congenital disorder that affects multiple parts of the body and is characterized by facial dysmorphism, neurological abnormalities, and skeletal abnormalities. It is often mistaken for Marfan syndrome because the two conditions share many similar features.

Diagnosis:
Diagnosis is primarily based on clinical findings. Definitive confirmation is made through genetic testing, which detects a known mutation. The syndrome was first described in 1979 by American physicians Robert F. Shprintzen and Rosalie B. Goldberg, and further characterized in 1980 by G. Sugarman and M. W. Vogel.

This congenital disorder should not be confused with Shprintzen syndrome (22q11 microdeletion syndrome). The estimated frequency is less than 1 in 1,000,000 people, making it an extremely rare syndrome; at the time of early reports, only about 60 patients had been described. Inheritance is autosomal dominant. The condition is associated primarily with mutations in the SKI gene on chromosome 1 (locus p36.33–p36.32); mutations involving FBN1 on chromosome 15 (locus q21.1) have also been discussed in relation to overlapping features.

Treatment:
Treatment is symptomatic, meaning it focuses on managing the individual manifestations of the disorder. Care is often multidisciplinary and may involve specialists such as cardiologists, orthopedists, and surgeons. Early intervention, rehabilitation therapy beginning in infancy, and support from special education professionals are important parts of care.

• Similar body and facial features – craniofacial anomalies (especially craniosynostosis) – premature fusion of the cranial sutures – therefore the skull cannot grow symmetrically, “withered” mouth, exophthalmos – the eyes are markedly “bulging”, prominent eyebrows, hypertelorism – the eyes are far apart, broad root of the nose, long and narrow shape of the head and face, gothic palate, micrognathia – small jaw, skeletal malformations
• Similar body constitution – long limbs, sunken chest, scoliosis, marfanoid habitus
• Heart abnormalities
• Skeletal abnormalities
• Omphalocele (umbilical hernia)
• Intellectual disability
• Cardiovascular system abnormalities – mostly milder forms of involvement
• Delayed psychomotor development
• Hypotonia – decreased muscle tone
• Joint hypermobility
• Wide spectrum of intellectual disability (mild to moderately severe)
• Learning difficulties
• Omphalocele – umbilical hernia, inguinal hernia – groin hernia
• Hypoplasia (pharynx and larynx)