Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome is a very rare disease that is congenital. It is often considered as Marfan syndrome, due to its many similar disorders, such as: long limbs, scoliosis, abnormalities of the heart, and mental disorders.

Occurence of the syndrome[edit | edit source]

This disease was discovered in 1979 by American doctors Robert F. Shprintzen and Rosalie B. Goldberg. It is a congenital disorder that is often confused with Shprintzen syndrome. It is a very rare syndrome, which occurs at a ratio of 1:1,000,000. The disorder is inherited in an autosomal dominant manner. It is a partial mutation in the SKI gene on chromosome 1, locus p36.33-p36.32 or FBN on chromosome 15 and locus q21.1.

Diagnosis[edit | edit source]

The diagnosis is based on clinical findings. Only a genetic examination, which detects the presence of a gene mutation, will definitely confirm this disease.

Symptoms[edit | edit source]

The symptoms can be visible during pregnancy on an ultrasound, where we can observe an elongated head (due to an enlarged fontanel).

Premature fusion of cranial sutures (the skull cannot grow symmetrically)
Long and thin face shape
Prominent eyebrows, eyes are wide apart
Exophthalmos
Wide bridge of the nose
Slightly raised mouth
Marfanoid tongue
Skeletal malformations
Abnormalities of the cardiovascular system
Hypotonia
Omphalocele
Hypoplasia
Arachnodactyly

Treatment[edit | edit source]

The treatment is dependent on the symptoms. A tracheostomy is performed for better breathing and due to the development of sucking reflex, a tube is sometimes inserted.