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
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
Santolaya JM, Groninga LC, Delgado A, et al: Patients with geleophysic
dysplasia are not always geleophysic. Am J Med Genet