Rhizomelic syndrome, Urbach type
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 April 2024
Newly diagnosed with
Rhizomelic syndrome, Urbach type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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