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Synostosis of many small joints.


Polysynostosis Syndrome; Synostosis Multiplex.


Familial; autosomal dominant inheritance. Chromosome 17q 21-22 has been linked to the disease.


Symphalangism, synostoses of the tarsal and carpal bones, and other abnormalities, including orofacial defects and delayed mental development, occurring alone or as a component of other syndromes.


Numerous skeletal deformities should evoke the diagnosis.


Hand abnormalities include synostoses of the carpal bones, radial head subluxation, hypoplasia of the middle phalanges, and metacarpophalangeal synostoses; short and broad first metacarpal bones, disturbances in bone modeling of the metacarpal bones and phalanges, and agenesis of the middle phalanges. Foot abnormalities include synostoses of the tarsal bones, synostoses of the tarsal and metatarsal bones, agenesis of the middle and distal phalanges, and disturbance in bone modeling of the phalanges. Hypoplasia of the alae nasi. Short upper lip. Cubitus valgus, limited extension of the forearm, and limited hip motion. Variable fusion of middle ear ossicles. Moderate mental retardation.


Complete neurologic and motor examination encompassing milestones, parental information, and chart information. Determine if another syndrome is associated and its implications. If the patient receives chronic corticosteroid treatment, preoperative supplementation is indicated.


Difficult vascular access; potentially uncooperative patient. In presence of orofacial anomalies, the possibility of difficult direct laryngoscopy and tracheal intubation must be suspected. Nasal intubation probably problematic.


No known implications for this disease.


Legg-Calvé-Perthes Disease: Group of disorders known as the osteochondroses. Believed to be caused by unexplained interruption of the blood supply to the capital femoral epiphysis resulting in avascular necrosis. Clinically, this disease is characterized by limp with or without pain in the hip, knee, thigh, and groin.


Pseudo-Achondroplastic Dysplasia: Rare inherited disorder characterized by skeletal malformations resulting in short-limbed dwarfism. Affected individuals present brachydactyly, genu varum, and genu valgum. In addition, affected individuals may have lumbar lordosis and kyphosis. Cases of pseudoachondroplastic dysplasia are the result of mutations of the COMP gene, indicating this disorder is allelic to some cases of multiple epiphyseal dysplasia.

da-Silva EO, Filho SM, de Albuquerque SC: Multiple synostosis syndrome: Study of a large Brazilian kindred. Am J Med Genet 18:237, 1984.  [PubMed: 6465200]
Jones KL: Multiple synostosis syndrome, in Jones KL (ed): Smith's Recognizable Patterns of Human Malformation. Philadelphia, WB Saunders, 1997, p 432.
Krakow D, Reinker K, Powell B, et al: Localization of a multiple synostoses syndrome disease gene to chromosome 17q 21-22. Am J Hum Genet 63:120, 1998.  [PubMed: 9634519]
Shiraishi M, Minami K: Anesthesia for a child with Antley-Bixler Syndrome. Can J Anaesth 48:828, 2001.  [PubMed: 11546734]

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