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

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Dwarfism with Stiff Joints and Ocular Abnormalities.

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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.

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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.

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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.

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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 metacarpal.

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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.

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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.

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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 inheritance.

Faivre L, Le Merrer M, Baumann C, et al: Acromicric dysplasia: Long-term outcome and evidence of autosomal dominant inheritance. J Med Genet 38:745, 2001.  [PubMed: 11694546]
Hennekam RCM, van Bever Y, Oorthuys JWE: Acromicric dysplasia and geleophysic dysplasia: Similarities and differences. Eur J Pediatr 155:311, 1996.  [PubMed: 8777926]
Winter RM, Patton MA, Challener J, et al: Moore-Federman syndrome and acromicric dysplasia: Are they the same entity? J Med Genet 26:320, 1989.  [PubMed: ...

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