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Stüve-Wiedemann syndrome 1
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11. [from OMIM]
Dysosteosclerosis
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly. [from ORDO]
Abnormal metaphyseal trabeculation
An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. [from HPO]
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