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Camurati-Engelmann disease, type 2

MedGen UID:
419470
Concept ID:
C2931683
Disease or Syndrome
Synonym: Progressive diaphyseal dysplasia with striations of the bones
 
Monarch Initiative: MONDO:0011690
OMIM®: 606631

Definition

Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. [from MONDO]

Clinical features

From HPO
Lower limb pain
MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Hyperostosis
MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Excessive growth or abnormal thickening of bone tissue.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Thoracolumbar scoliosis
MedGen UID:
196671
Concept ID:
C0749379
Anatomical Abnormality
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

Recent clinical studies

Etiology

Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ
Clin Orthop Surg 2017 Mar;9(1):109-115. Epub 2017 Feb 13 doi: 10.4055/cios.2017.9.1.109. PMID: 28261436Free PMC Article

Diagnosis

Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ
Clin Orthop Surg 2017 Mar;9(1):109-115. Epub 2017 Feb 13 doi: 10.4055/cios.2017.9.1.109. PMID: 28261436Free PMC Article
Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, Superti-Furga A
Am J Med Genet A 2014 Oct;164A(10):2667-71. Epub 2014 Aug 5 doi: 10.1002/ajmg.a.36692. PMID: 25099136
de Vernejoul MC
Best Pract Res Clin Rheumatol 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011. PMID: 18328982
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

Therapy

Brener A, Zeitlin L, Wilnai Y, Birk OS, Rosenfeld T, Chorna E, Lebenthal Y
Acta Diabetol 2022 May;59(5):711-719. Epub 2022 Feb 8 doi: 10.1007/s00592-022-01854-7. PMID: 35137278
Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ
Clin Orthop Surg 2017 Mar;9(1):109-115. Epub 2017 Feb 13 doi: 10.4055/cios.2017.9.1.109. PMID: 28261436Free PMC Article
Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, Superti-Furga A
Am J Med Genet A 2014 Oct;164A(10):2667-71. Epub 2014 Aug 5 doi: 10.1002/ajmg.a.36692. PMID: 25099136

Prognosis

Brener A, Zeitlin L, Wilnai Y, Birk OS, Rosenfeld T, Chorna E, Lebenthal Y
Acta Diabetol 2022 May;59(5):711-719. Epub 2022 Feb 8 doi: 10.1007/s00592-022-01854-7. PMID: 35137278
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ
Clin Orthop Surg 2017 Mar;9(1):109-115. Epub 2017 Feb 13 doi: 10.4055/cios.2017.9.1.109. PMID: 28261436Free PMC Article

Clinical prediction guides

Brener A, Zeitlin L, Wilnai Y, Birk OS, Rosenfeld T, Chorna E, Lebenthal Y
Acta Diabetol 2022 May;59(5):711-719. Epub 2022 Feb 8 doi: 10.1007/s00592-022-01854-7. PMID: 35137278
Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article
Ichimura S, Sasaki S, Murata T, Fukumura R, Gondo Y, Ikegawa S, Furuichi T
Exp Anim 2017 May 3;66(2):137-144. Epub 2016 Dec 8 doi: 10.1538/expanim.16-0085. PMID: 27928112Free PMC Article
Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, Superti-Furga A
Am J Med Genet A 2014 Oct;164A(10):2667-71. Epub 2014 Aug 5 doi: 10.1002/ajmg.a.36692. PMID: 25099136
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

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