Rhizomelic syndrome, Urbach type

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Rhizomelic syndrome Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature dislocated hips digitalization of the thumb with bifid distal phalanx) craniofacial features (e.g. microcephaly large anterior fontanelle fine and sparse scalp hair depressed nasal bridge high arched palate micrognathia short neck) congenital heart defects (e.g. pulmonary stenosis) delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses platyspondyly and/or digital anomalies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Rhizomelic syndrome, Urbach type?

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