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At a glance

A very rare disorder characterized by a child with happy face (gelios = happy, and physis = nature). The facial signs include a small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. This condition is believed to be a “focal” mucopolysaccharidosis. The presence of dysostosis multiplex-like changes, predominantly in the hands and feet, associated with cardio- and hepatomegaly has been reported. Right ventricular hypertrophy, usually mild (can also be severe) mitral and tricuspid valve stenosis and aortic valve regurgitation is reported as the patient ages. Airway obstruction as a result of progressive tracheal narrowing is reported.


This is a very rare medical condition and the incidence remains unknown.

Genetic inheritance

It is inherited as an autosomal recessive genetic trait.


This form of “focal” mucopolysaccharidosis is defined by specific organ lysosomal storage affecting especially the trachea, liver, cartilage, and heart. Lysosomal storage vacuoles are found in skin epithelial cells and in the tracheal mucosa, liver, cartilage, and macrophages.

Clinical aspects

The most important characteristic of children affected with geleophysic dysplasia is the presence of a pleasant, happy-looking, round, full face, and a high-pitched voice. However, the facial characteristic has been suggested to not always be associated with a “geleophysic” behavior. The short stature is associated with a normal head circumference. The cardiovascular system is affected with cardiomegaly and right ventricular hypertrophy leading to cardiac failure. The valvular system presents with mitral and tricuspid valve stenosis, aortic valve regurgitation, and/or stenosis. The respiratory system can be affected with tracheal and bronchial stenosis. Usually, a significant pectus excavatum is noted. The liver is highly affected by storage of mucopolysaccharides, and hepatomegaly develops at an early age. The skeletal system shows osteopenia, coxa valga, shortened long tubular bones, short hands, wrist contractures, short metacarpals with rounded proximal ends, and short feet. The skin is thickened and tight. The neurologic system may present important developmental delay and seizure activity. Radiologically, the shape of the sella turcica shows a characteristic J-form.

Anesthetic considerations

The most important considerations affect the pulmonary and cardiovascular systems. The presence of tracheal stenosis or main bronchi stenosis may have a considerable effect on tracheal intubation and mechanical ventilation. Maintenance of spontaneous ventilation is highly recommended until proper ventilatory support is confirmed. A smaller than expected tracheal tube should be used. The association of valvular disease (most probably stenosis, but also possible association with regurgitation) and heart muscle disease should direct the administration of anesthesia accordingly. Intraoperative positioning could be difficult because of joint contractures or reduced mobility.

Other conditions to be considered

  • ☞Acromicric Dysplasia: Characterized by severe growth retardation, mild facial ...

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