Dwarfism with disproportionately short legs. Reduced
joint mobility (or stiffness) and ocular anomalies (hyperopia, glaucoma,
cataract, and retinal detachment).
Dwarfism with Stiff Joints and Ocular Abnormalities.
Only a few families described.
Autosomal dominant. Genetic disorder thought to be transmitted from male to
male. Acromicric dysplasia, geleophysic dysplasia, and Moore-Federman
syndrome may be allelic forms of the same disorder or different disturbances
of the same metabolic pathway.
Disproportionate dwarfism, with short legs and
fingers, delayed carpal bone age, stiff joints, and thickened forearm skin.
Abnormalities of the eyes may include hyperopia, glaucoma, cataract, and
retinal detachment. A comparison of these different related entities is
difficult because of the small number of patients reported, and not all
descriptions are of the same quality with regard to details of clinical
features or radiography.
The true syndrome has no descriptions of
association with any storage or metabolic disease, and no problems with
tracheal stenosis have been reported. However, because of the small number
of cases and the possible overlapping of several syndromes, pay special
attention to the airway, and check cardiac and hepatic functions.
Acromicric Dysplasia: Mild facial anomalies, markedly shortened
hands and feet, and severe growth retardation. Radiologic examination
reveals short, stubby metacarpals and phalanges with notching of the second
Geleophysic Dysplasia: Characterized by the designation of the
happy face of the affected child (gelios = happy, physis = nature). This disorder is
often considered a “focal” mucopolysaccharidosis. The clinical features
include dysostosis multiplex-like changes, predominantly in the hands and
feet, and the consequences of focal accumulation of acid mucopolysaccharides
in the liver and possibly the cardiovascular system. Joint contractures,
hepatomegaly, and cardiomegaly can be present. Aortic and mitral valves
regurgitation have been reported.
Leri Pleonosteosis: Characterized by laryngotrachealstenoses,
short stature, mongoloid facies, short spadelike hands, broad thumbs in
valgus position, genu recurvatum and generalized limitation of joint
mobility, thickening of the palmar and forearm fasciae, enlargement of the
posterior neural arches of the cervical vertebrae, and shuffling
short-stepped gait. It is inherited as an autosomal dominant pattern.
Weill-Marchesani Syndrome: Rare, genetic disorder characterized
by short stature, brachycephaly, hand defects, including brachydactyly, and
unusually small, round lenses of the eyes (spherophakia) prone to ectopia
lentis. Affected individuals may have varying degrees of visual impairment,
ranging from myopia to blindness. Autosomal recessive or autosomal dominant
Faivre L, Le Merrer M, Baumann C, et al: Acromicric dysplasia: Long-term
outcome and evidence of autosomal dominant inheritance. J Med Genet
Hennekam RCM, van Bever Y, Oorthuys JWE: Acromicric dysplasia and
geleophysic dysplasia: Similarities and differences. Eur J Pediatr
Winter RM, Patton MA, Challener J, et al: Moore-Federman syndrome and
acromicric dysplasia: Are they the same entity? J Med Genet