Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal. Shprintzen-Goldberg syndrome causes, symptoms, complications and treatment from St. Louis Children's Hospital, top rated children's hospital in the nation. Shprintzen Goldberg syndrome (SGS) is an extremely rare connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular deformities.‎General Discussion · ‎Signs & Symptoms · ‎Causes · ‎Related Disorders.


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Like MFS, individuals can have long, slender fingers and toes and arm spans that exceed their height.


Most individuals have permanent fixation of certain joints in a flexed position contractures that is present at birth congenital and is progressive. The joints of the fingers, elbows, sindrome de shprintzen goldberg, and hips are most often affected.

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The contractures generally improve with age. Rarely, affected individuals may have a slight deformity of the valve on the left side of the heart mitral valve prolapse.

Shprintzen–Goldberg syndrome - Wikipedia

A severe lethal form has been found in infants and is characterized by cardiovascular and gastrointestinal anomalies as well as the skeletal features. This is exceedingly rare.

Diagnosis Shprintzen Goldberg syndrome is generally diagnosed after a thorough physical examination and the presence of certain craniofacial, skeletal, cardiovascular, neurologic features and brain anomalies. Sindrome de shprintzen goldberg date, this is the only identified gene associated with SGS.

Treatments are primarily surgical: X-ray of the neck and spine should be done annually to assess for skeletal changes and surgical fusion of the cervical vertebrae C1 and C2 may be needed.

MRA magnetic resonance angiography or CTA computed tomography angiography is recommended every two years to assess from head to pelvis in patients with SGS. Bone density sindrome de shprintzen goldberg should be performed in all people diagnosed with SGS.

Feeding may need to come exclusively or be supplemented by a feeding tube. CPAP can be used if patient suffers from obstructive apnea.

Shprintzen-Goldberg syndrome: a rare disorder

Tracheostomy or tracheostomy may be needed if airway is obstructed by abnormality in the structure of bone or tissue at the back of nasal passage choanal atresia. An eye exam with an ophthalmologist that specializes in connective tissue disease is recommended yearly and glasses may be prescribed for myopia.

Annual exams with a cardiologist are recommended and medications beta blocker or sindrome de shprintzen goldberg receptor blocker should be considered sindrome de shprintzen goldberg those patients with abnormal aortic growth.

Echocardiograms should be conducted yearly to monitor aortic size and heart function.


Early analysis of these treatments has yielded varying results. The condition may be misdiagnosed as Marfan syndrome, another connective tissue disorder resulting in similar signs and symptoms.

Intellectual disability is more sindrome de shprintzen goldberg to occur in those with Shprintzen-Goldberg syndrome, while heart problems sindrome de shprintzen goldberg more likely to occur in Marfan syndrome.

What are the signs and symptoms of Shprintzen-Goldberg syndrome? The traits of Shprintzen-Goldberg syndrome are similar to the traits of Marfan syndrome and include: A tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers.


Abnormal head shape Either a sunken chest or one that bulges outward Curvature of the sindrome de shprintzen goldberg Long, slender arms, legs and fingers One or more permanently bent fingers Delayed development Mild to moderate intellectual disabilities What causes Shprintzen-Goldberg syndrome?

Most cases are caused by a defect in a gene that affects a protein instrumental in the development of many tissues, including the skull, other bones, skin and brain.