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Mesomelic arm shortening

MedGen UID:
Concept ID:
Synonyms: Mesomelia (upper limbs); Upper limb brachymesomelia
HPO: HP:0005011


Shortening of the middle parts of the arm in relation to the upper and terminal segments. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic arm shortening

Conditions with this feature

Terminal osseous dysplasia-pigmentary defects syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).
Richieri Costa-Pereira syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
MedGen UID:
Concept ID:
Disease or Syndrome
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families.
Autosomal recessive Robinow syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Upper limb mesomelic dysplasia
MedGen UID:
Concept ID:
Disease or Syndrome
This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

Recent clinical studies


Patton MA, Afzal AR
J Med Genet 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. PMID: 12011143Free PMC Article

Clinical prediction guides

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G
Clin Genet 2000 Jun;57(6):449-53. doi: 10.1034/j.1399-0004.2000.570609.x. PMID: 10905666

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