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Abnormal humeral diaphysis morphology

MedGen UID:: 871038
•Concept ID:: C4025502
•: Anatomical Abnormality

Synonyms:	Abnormality of shaft of long bone in upper arm; Abnormality of the humeral diaphysis

HPO:	HP:0003926

Definition

An anomaly of the humeral diaphysis. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal humeral diaphysis morphology

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb bone morphology
      - Abnormal humerus morphology
        Abnormal humeral diaphysis morphology
        Abnormal deltoid tuberosity morphology
        Prominent deltoid tuberosities
        Cortical irregularity of humeral diaphysis
        Cortical thickening of humeral diaphysis
        Ground glass opacity of humeral diaphysis
        Lytic defects of humeral diaphysis
        Sclerosis of humeral diaphysis
        Sclerotic foci of humeral diaphysis
        Slender humeral diaphysis
        Wide humeral diaphysis

Recent clinical studies

Etiology

Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.

Farr S, Jauker F, Ganger R
J Shoulder Elbow Surg 2024 Jan;33(1):e21-e30. Epub 2023 Jun 26 doi: 10.1016/j.jse.2023.05.025. PMID: 37379966

Achondroplasia: Really rhizomelic?

Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098

Study of malignant fibrous histiocytoma: clinical, statistic and histopatological interrelation.

Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A
Am J Med Genet 2000 Mar 13;91(2):153-6. doi: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u. PMID: 10748417

Fractures in patients who have myelomeningocele.

Lock TR, Aronson DD
J Bone Joint Surg Am 1989 Sep;71(8):1153-7. PMID: 2777841

See all (8)

Diagnosis

Achondroplasia: Really rhizomelic?

Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098

Cystic fibrous dysplasia of the humerus.

Burns AH, Wilcox Iii RB
J Orthop Sports Phys Ther 2011 Jun;41(6):459. Epub 2011 May 31 doi: 10.2519/jospt.2011.0413. PMID: 21628829

Study of malignant fibrous histiocytoma: clinical, statistic and histopatological interrelation.

Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A
Am J Med Genet 2000 Mar 13;91(2):153-6. doi: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u. PMID: 10748417

Ocular findings in hereditary diaphyseal cysplasia (Engelmann's disease).

Morse PH, Walsh FB, McCormick JR
Am J Ophthalmol 1969 Jul;68(1):100-4. doi: 10.1016/0002-9394(69)94939-3. PMID: 5793652

See all (10)

Therapy

Current aspects of osteoarticular pathology in patients undergoing hemodialysis: study of 80 patients. Part 1. Clinical and radiological analysis.

Hardouin P, Flipo RM, Foissac-Gegoux P, Thevenon A, Pouyol F, Duquesnoy B, Delcambre B
J Rheumatol 1987 Aug;14(4):780-3. PMID: 3668984

See all (1)

Prognosis

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.

Mason AE, Grier D, Smithson SF, Burren CP, Gradhand E
BMC Med Genet 2020 Mar 30;21(1):64. doi: 10.1186/s12881-020-01007-z. PMID: 32228492 Free PMC Article

Study of malignant fibrous histiocytoma: clinical, statistic and histopatological interrelation.

Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079

The fetal arm: individualized growth assessment in normal pregnancies.

Lee W, Deter RL, McNie B, Gonçalves LF, Espinoza J, Chaiworapongsa T, Balasubramaniam M, Romero R
J Ultrasound Med 2005 Jun;24(6):817-28. PMID: 15914686

See all (3)

Clinical prediction guides

Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.

Farr S, Jauker F, Ganger R
J Shoulder Elbow Surg 2024 Jan;33(1):e21-e30. Epub 2023 Jun 26 doi: 10.1016/j.jse.2023.05.025. PMID: 37379966

Achondroplasia: Really rhizomelic?

Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098

Study of malignant fibrous histiocytoma: clinical, statistic and histopatological interrelation.

Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079

The fetal arm: individualized growth assessment in normal pregnancies.

Lee W, Deter RL, McNie B, Gonçalves LF, Espinoza J, Chaiworapongsa T, Balasubramaniam M, Romero R
J Ultrasound Med 2005 Jun;24(6):817-28. PMID: 15914686

Study of diaphyseal nutrient foramina in human long bones.

Longia GS, Ajmani ML, Saxena SK, Thomas RJ
Acta Anat (Basel) 1980;107(4):399-406. doi: 10.1159/000145267. PMID: 7405528

See all (9)

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Abnormal humeral diaphysis morphology

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

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Clinical resources

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