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Genu recurvatum

MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
Synonyms: Back knee; Genu recurvata; Knee hyperextension
 
HPO: HP:0002816

Definition

An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. [from NCI]

Conditions with this feature

Goldblatt hypertension
MedGen UID:
9071
Concept ID:
C0018036
Disease or Syndrome
HYPERTENSION due to renal ISCHEMIA. In 1934, Harry Goldblatt described that hypertension can be produced experimentally by using a clamp to obstruct blood flow to one kidney, the Goldblatt phenomenon.
Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Disease or Syndrome
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
Megalocornea mental retardation syndrome
MedGen UID:
162904
Concept ID:
C0796086
Disease or Syndrome
Megalocornea and iris anomalies accompanied by facial and skeletal defects, slow psychomotor development, hypotonia, and seizures. Later reports classify megalocornea-mental retardation syndrome into several types: Type 1 Synonym: Neuhauser syndrome With iris hypoplasia and minor abnormalities. Type 2 With camptodactyly, scoliosis, and growth retardation. Type 3 Synonym: Verloes type With macrocephaly, hypotonia, and other minor anomalies but no hypoplasia of the irides. Type 4 With megalocephaly,obesity, and normal irides.
Atkin syndrome
MedGen UID:
163230
Concept ID:
C0796206
Disease or Syndrome
Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical hernia, and hip dislocation.
Shprintzen-Goldberg syndrome
MedGen UID:
231160
Concept ID:
C1321551
Congenital Abnormality
Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males are also characteristic findings.
Leri pleonosteosis
MedGen UID:
331978
Concept ID:
C1835450
Disease or Syndrome
Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210), and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015).
Marfanoid habitus with situs inversus
MedGen UID:
323046
Concept ID:
C1836994
Disease or Syndrome
Ehlers-Danlos syndrome Beasley Cohen type
MedGen UID:
332459
Concept ID:
C1837462
Disease or Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized.Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome.Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older.Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
MedGen UID:
347359
Concept ID:
C1857034
Disease or Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized.Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome.Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older.Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
MedGen UID:
346973
Concept ID:
C1858726
Congenital Abnormality
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils); mildly dysmorphic facial features apparent in late childhood; and a hypo/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade. Secondary scoliosis and foot deformities are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild non-progressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Roma/Gypsy population.
Clark-Baraitser syndrome
MedGen UID:
443983
Concept ID:
C2931130
Disease or Syndrome
Aarskog syndrome, autosomal dominant
MedGen UID:
460570
Concept ID:
C3149220
Disease or Syndrome
Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983).
Meier-Gorlin syndrome 4
MedGen UID:
462470
Concept ID:
C3151120
Disease or Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Spastic paraplegia 47, autosomal recessive
MedGen UID:
481368
Concept ID:
C3279738
Disease or Syndrome
Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

Recent clinical studies

Etiology

Koo K, Silva A, Chong HC, Chin PL, Chia SL, Lo NN, Yeo SJ
Clin Orthop Surg 2016 Sep;8(3):249-53. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.249. PMID: 27583106Free PMC Article
Brooks JT, Bernholt DL, Tran KV, Ain MC
J Pediatr Orthop 2016 Jun;36(4):349-54. doi: 10.1097/BPO.0000000000000458. PMID: 26114241
Klotz MC, Wolf SI, Heitzmann D, Maier MW, Braatz F, Dreher T
Res Dev Disabil 2014 Jun;35(6):1357-63. Epub 2014 Apr 3 doi: 10.1016/j.ridd.2014.03.032. PMID: 24705489
Klotz MC, Wolf SI, Heitzmann D, Gantz S, Braatz F, Dreher T
Clin Orthop Relat Res 2013 Jul;471(7):2327-32. Epub 2013 Mar 6 doi: 10.1007/s11999-013-2897-7. PMID: 23463290Free PMC Article
Kawahara K, Sekimoto T, Watanabe S, Yamamoto K, Tajima T, Yamaguchi N, Chosa E
Knee Surg Sports Traumatol Arthrosc 2012 Aug;20(8):1479-87. Epub 2011 Nov 9 doi: 10.1007/s00167-011-1701-z. PMID: 22068266

Diagnosis

Tani Y, Otaka Y, Kudo M, Kurayama T, Kondo K
J Stroke Cerebrovasc Dis 2016 May;25(5):1153-7. Epub 2016 Feb 19 doi: 10.1016/j.jstrokecerebrovasdis.2016.01.028. PMID: 26907679
Monteagudo A, Kudla MM, Essig M, Santos R, Timor-Tritsch IE
J Ultrasound Med 2006 Aug;25(8):1079-83. PMID: 16870903
Llario S, Brandon ML, Bonamo JR, Flynn MI, Sherman MF
J Knee Surg 2004 Oct;17(4):214-7. PMID: 15553589
Chen LC, Chan YS, Wang CJ
J Orthop Trauma 2004 Jul;18(6):384-7. PMID: 15213505
Gorincour G, Chotel F, Rudigoz RC, Guibal-Baggio AL, Berard J, Pracros JP, Guibaud L
Ultrasound Obstet Gynecol 2003 Dec;22(6):643-5. doi: 10.1002/uog.884. PMID: 14689540

Therapy

Koo K, Silva A, Chong HC, Chin PL, Chia SL, Lo NN, Yeo SJ
Clin Orthop Surg 2016 Sep;8(3):249-53. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.249. PMID: 27583106Free PMC Article
Portnoy S, Frechtel A, Raveh E, Schwartz I
PM R 2015 Oct;7(10):1042-51. Epub 2015 Apr 14 doi: 10.1016/j.pmrj.2015.04.007. PMID: 25886825
Appasamy M, De Witt ME, Patel N, Yeh N, Bloom O, Oreste A
PM R 2015 Feb;7(2):105-12. Epub 2014 Nov 13 doi: 10.1016/j.pmrj.2014.10.015. PMID: 25460209
Kievit AJ, van Duijvenbode DC, Stavenuiter MH
J Pediatr Orthop B 2013 Jul;22(4):318-21. doi: 10.1097/BPB.0b013e3283623b2c. PMID: 23652968
Klotz MC, Wolf SI, Heitzmann D, Gantz S, Braatz F, Dreher T
Clin Orthop Relat Res 2013 Jul;471(7):2327-32. Epub 2013 Mar 6 doi: 10.1007/s11999-013-2897-7. PMID: 23463290Free PMC Article

Prognosis

Dreher T, Vegvari D, Wolf SI, Geisbüsch A, Gantz S, Wenz W, Braatz F
J Bone Joint Surg Am 2012 Jan 18;94(2):121-30. doi: 10.2106/JBJS.J.00890. PMID: 22257998
Gorincour G, Chotel F, Rudigoz RC, Guibal-Baggio AL, Berard J, Pracros JP, Guibaud L
Ultrasound Obstet Gynecol 2003 Dec;22(6):643-5. doi: 10.1002/uog.884. PMID: 14689540
Segev E, Hendel D, Wientroub S
J Pediatr Orthop B 2002 Jul;11(3):260-4. PMID: 12089505
Choi IH, Chung CY, Cho TJ, Park SS
J Bone Joint Surg Br 1999 Sep;81(5):769-74. PMID: 10530834
Moroni A, Pezzuto V, Pompili M, Zinghi G
J Bone Joint Surg Am 1992 Apr;74(4):577-86. PMID: 1583053

Clinical prediction guides

Koo K, Silva A, Chong HC, Chin PL, Chia SL, Lo NN, Yeo SJ
Clin Orthop Surg 2016 Sep;8(3):249-53. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.249. PMID: 27583106Free PMC Article
Appasamy M, De Witt ME, Patel N, Yeh N, Bloom O, Oreste A
PM R 2015 Feb;7(2):105-12. Epub 2014 Nov 13 doi: 10.1016/j.pmrj.2014.10.015. PMID: 25460209
Shultz SJ, Levine BJ, Nguyen AD, Kim H, Montgomery MM, Perrin DH
J Orthop Res 2010 Nov;28(11):1411-7. doi: 10.1002/jor.21145. PMID: 20872575Free PMC Article
Zwick EB, Svehlík M, Steinwender G, Saraph V, Linhart WE
J Pediatr Orthop B 2010 Jul;19(4):373-8. doi: 10.1097/BPB.0b013e32833822d5. PMID: 20308923
Gorincour G, Chotel F, Rudigoz RC, Guibal-Baggio AL, Berard J, Pracros JP, Guibaud L
Ultrasound Obstet Gynecol 2003 Dec;22(6):643-5. doi: 10.1002/uog.884. PMID: 14689540

Recent systematic reviews

Baldini A, Castellani L, Traverso F, Balatri A, Balato G, Franceschini V
Bone Joint J 2015 Oct;97-B(10 Suppl A):30-9. doi: 10.1302/0301-620X.97B10.36920. PMID: 26430084
Bleyenheuft C, Bleyenheuft Y, Hanson P, Deltombe T
Ann Phys Rehabil Med 2010 Apr;53(3):189-99. Epub 2010 Jan 28 doi: 10.1016/j.rehab.2010.01.001. PMID: 20153279

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