acrodysostosis


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ac·ro·dys·os·to·sis

(ak'rō-dis-os-tō'sis), [MIM*101800]
A disorder in which the hands and feet are short with stubby fingers and toes. Growth retardation is progressive. Mental retardation and marked nasal hypoplasia are also present; autosomal dominant inheritance.
[acro- + dysostosis]

Acrodysostosis

An autosomal dominant condition which primarily affects bone and is characterised by ocular hypertelorism, brachycephaly, small upturned broad nose with flat nasal bridge, protruding jaw, short arms and legs with deformities of the hands and feet, possibly with other defects of skin, genitals, teeth, and skeleton. It is usually associated with mental retardation and ear infections.
Imaging In early infancy, spotty calcium deposits—stippling in bones—especially in the nose, short bones.
References in periodicals archive ?
INTRODUCTION: Acrodysostosis is an extremely rare skeletal dysplasia characterized by abnormally short and malformed bones of the hands and feet, nasal hypoplasia, and mental retardation.
The most unique and constant feature of acrodysostosis is generalized peripheral dysostosis.
Associated features were mental retardation, small upturned nose and flat face suggestive of acrodysostosis.
Associated features seen in this patient were mental retardation, small upturned nose and flat face suggestive of acrodysostosis (4, 7).
The differential diagnosis of acrodysostosis are achondroplasia, hypothyroidism, pseudo-hypoparathyroidism, and pseudo-pseudohypoparathyroidism.
Acrodysostosis associated with symptomatic cervical spine stenosis.
Table 1 Etiology of Secondary Protrusio Acetabuli Infection Gonococcus Echinococcus Tuberculosis Syphilis Streptococcus Staphylococcus Inflammatory Rheumatoid Arthritis Spondyloarthritides Idiopathic Chondrolysis Metabolic Paget's Disease Osteomalacia Hyperparathyroidism Genetic Osteogenesis Imperfecta Acrodysostosis Marfan Syndrome Ehler-Danlos Syndrome Trisomy 18 Stickler Syndrome Neurofibromatosis Sickle Cell Disease Trichorhinophalangeal Syndrome Homocystinuria Neoplastic Primary Neoplasm (e.