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Aplasia/hypoplasia of the humerus

MedGen UID:
Concept ID:
Synonyms: Absent/small long bone in upper arm; Absent/underdeveloped long bone in upper arm
HPO: HP:0006507


Absence (due to failure to form) or underdevelopment of the humerus. [from HPO]

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
MedGen UID:
Concept ID:
Disease or Syndrome

Recent clinical studies


Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H
Orphanet J Rare Dis 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y. PMID: 25344219Free PMC Article

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