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Irregular femoral epiphysis

MedGen UID:
340592
Concept ID:
C1850658
Finding
Synonym: Irregular femoral epiphyses
 
HPO: HP:0006361

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIrregular femoral epiphysis

Conditions with this feature

Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).
Roifman syndrome
MedGen UID:
375801
Concept ID:
C1846059
Disease or Syndrome
Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006).
Stickler syndrome type 1
MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Richieri Costa-da Silva syndrome
MedGen UID:
419686
Concept ID:
C2930978
Disease or Syndrome
A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.
Meier-Gorlin syndrome 5
MedGen UID:
462476
Concept ID:
C3151126
Disease or Syndrome
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.\n\nMeier-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.\n\nSome 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).\n\nMost 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.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Stickler syndrome, type 4
MedGen UID:
481571
Concept ID:
C3279941
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MedGen UID:
1684771
Concept ID:
C5231478
Disease or Syndrome
The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).

Professional guidelines

PubMed

Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG
Clin Rheumatol 2020 Feb;39(2):553-560. Epub 2019 Oct 18 doi: 10.1007/s10067-019-04783-z. PMID: 31628567
Burgos J, Gonzalez-Herranz P, Ocete G, Rapariz JM
J Pediatr Orthop B 1995;4(2):188-93. doi: 10.1097/01202412-199504020-00011. PMID: 7670988

Recent clinical studies

Etiology

Wang J, Du Z, Yang R, Tang X, Yan T, Guo W
J Orthop Sci 2022 Jan;27(1):235-241. Epub 2021 Jan 5 doi: 10.1016/j.jos.2020.12.009. PMID: 33419623
Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG
Clin Rheumatol 2020 Feb;39(2):553-560. Epub 2019 Oct 18 doi: 10.1007/s10067-019-04783-z. PMID: 31628567
Borgo A, Cossio A, Gallone D, Vittoria F, Carbone M
Ital J Pediatr 2018 Nov 16;44(Suppl 2):123. doi: 10.1186/s13052-018-0557-y. PMID: 30442173Free PMC Article
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Klisić PJ
Int Orthop 1984;8(2):95-102. doi: 10.1007/BF00265831. PMID: 6386709

Diagnosis

Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG
Clin Rheumatol 2020 Feb;39(2):553-560. Epub 2019 Oct 18 doi: 10.1007/s10067-019-04783-z. PMID: 31628567
Borgo A, Cossio A, Gallone D, Vittoria F, Carbone M
Ital J Pediatr 2018 Nov 16;44(Suppl 2):123. doi: 10.1186/s13052-018-0557-y. PMID: 30442173Free PMC Article
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Subramanian S, Gamanagatti S, Sinha A, Sampangi R
Indian Pediatr 2007 Dec;44(12):931-3. PMID: 18175850
Klisić PJ
Int Orthop 1984;8(2):95-102. doi: 10.1007/BF00265831. PMID: 6386709

Therapy

Elera-Fitzcarrald C, Alfaro-Lozano JL, Pastor-Asurza CA
Clin Rheumatol 2015 Dec;34(12):2155-8. Epub 2015 Oct 29 doi: 10.1007/s10067-015-3092-x. PMID: 26511966
Lui TH
BMJ Case Rep 2015 Feb 26;2015 doi: 10.1136/bcr-2014-206909. PMID: 25721826Free PMC Article
Sharma R, Anand R, Chandra J, Seth A, Pemde H, Singh V
Pediatr Blood Cancer 2013 Dec;60(12):1957-62. Epub 2013 Aug 13 doi: 10.1002/pbc.24678. PMID: 23940095
Bache CE, Graham HK, Dickens DR, Donnan L, Johnson MB, Nattrass G, O'Sullivan M, Torode IP
J Pediatr Orthop 2008 Sep;28(6):607-13. doi: 10.1097/BPO.0b013e318184202c. PMID: 18724195
Shinoda S, Hasegawa Y, Kawasaki S, Tagawa N, Iwata H
Skeletal Radiol 1997 Jun;26(6):354-9. doi: 10.1007/s002560050247. PMID: 9229418

Prognosis

Iwame T, Matsuura T, Suzue N, Katsuura-Kamano S, Takao S, Iwase J, Sairyo K
J Pediatr Orthop B 2022 Mar 1;31(2):e174-e179. doi: 10.1097/BPB.0000000000000885. PMID: 34074919
Kreipke TC, Niebur GL
Ann Biomed Eng 2017 Jun;45(6):1543-1554. Epub 2017 Feb 2 doi: 10.1007/s10439-017-1805-9. PMID: 28155122
Yoo WJ, Kim YJ, Menezes NM, Cheon JE, Jaramillo D
Clin Orthop Relat Res 2011 Oct;469(10):2881-8. Epub 2011 Jun 10 doi: 10.1007/s11999-011-1931-x. PMID: 21660596Free PMC Article
Gekeler J
Oper Orthop Traumatol 2007 Oct;19(4):329-44. doi: 10.1007/s00064-007-1214-6. PMID: 17940732
Klisić PJ
Int Orthop 1984;8(2):95-102. doi: 10.1007/BF00265831. PMID: 6386709

Clinical prediction guides

Uludağ Alkaya D, Taner HE, Yıldırım T, Akpınar E, Tüysüz B
Am J Med Genet A 2024 Aug;194(8):e63635. Epub 2024 Apr 18 doi: 10.1002/ajmg.a.63635. PMID: 38634625
Wang J, Du Z, Yang R, Tang X, Yan T, Guo W
J Orthop Sci 2022 Jan;27(1):235-241. Epub 2021 Jan 5 doi: 10.1016/j.jos.2020.12.009. PMID: 33419623
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N
BMC Med Genet 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. PMID: 32460719Free PMC Article
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750

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