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Very rare disorder characterized by a child with happy face (gelios = happy, and physis = nature). This condition is believed to be a “focal” mucopolysaccharidosis. The presence of dysostosis-multiplex-like changes, predominantly in the hands and feet, associated with cardioand hepatomegaly has been reported. Right ventricular hypertrophy, severe mitral valve stenosis and aortic regurgitation as the patient ages has been observed.

This rare syndrome 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.

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.

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.

Acromicric Dysplasia: Characterized by severe growth retardation, mild facial anomalies, and markedly shortened hands and feet secondary to short and stubby metacarpals and phalanges.

Moore-Federman Syndrome: Dwarfism with disproportionately short legs. Reduced joint mobility (or stiffness) and ocular anomalies (hyperopia, glaucoma, cataract and retinal detachment).

Lipson AH, Kan AE, Kozlowski K: Geleophysic dysplasia: Acromicric dysplasia with evidence of glycoprotein storage. Am J Med Genet Suppl 3:181, 1987.  [PubMed: 3130853]
Santolaya JM, Groninga LC, Delgado A, et al: Patients with geleophysic dysplasia are not always geleophysic. Am J Med Genet 72:85, 1997.  [PubMed: 9295082]

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