Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Morphological anomaly Synonyms Congenital absence of humerus Congenital hypoplasia of humerus Humeral intercalary meromelia Congenital absence of humerus Congenital hypoplasia of humerus Humeral intercalary meromelia ORPHA code 294973 OMIM code - ICD10 code Q71.8 ICD11 code LB99.1 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl