Humeral agenesis/hypoplasia
Synonyms: Congenital absence of humerus | Congenital hypoplasia of humerus | Humeral intercalary meromelia
Humeral agenesis/hypoplasia is a rare non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder no articulation at the shoulder joint impossible passive extension of the arm beyond the mid-axillary line no elbow joints bowing of the radius a short ulna and/or ulnar/radial deviation of the hand at the wrist.
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
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Humeral agenesis/hypoplasia?
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