Legg-Calvé-Perthes disease

A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.



Input patient's signs and symptoms


Narrow down the case reports



Total: 84 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
10
(32.7%)
9075104
Surgical correction of "functional retroversion" and "functional coxa vara" in late Legg-Calve-Perthes disease and epiphyseal dysplasia: correction of deformity defined by new imaging modalities.
Kim HT, Wenger DR.
J Pediatr Orthop. 1997;17(2):247-54.
Epiphyseal dysplasia Coxa vara
Child Hip Joint Homo sapiens Joint Deformities, Acquired Legg-Calve-Perthes Disease Male Osteochondrodysplasias Osteotomy Repeat Surgery X-Ray Computed Tomography
10
(32.7%)
7419941
[Painful hip joint with epiphyseal dysplasia (author's transl)].
Inoue S, Tagawa H, Ninomiya S, Miyanaga Y.
Nihon Seikeigeka Gakkai Zasshi. 1980;54(5):419-30.
Spondyloepiphyseal dysplasia Epiphyseal dysplasia Coxa vara
Adult Child Chondrodysplasia Punctata Females Hip Joint Homo sapiens Male Middle Aged Sex Factors
10
(32.7%)
3584859
Abnormal daily periodicity of serum thyrotropin (TSH) and evidence for defective TSH suppression in a case of non-neoplastic syndrome of inappropriate TSH secretion.
Benvenga S, Sobbrio GA, Vermiglio F, Li Calzi L, Cannavo S, Consolo F, Trimarchi F.
J Endocrinol Invest. 1987;10(2):195-202.
Nystagmus Genu valgum
Adult Circadian Rhythms Growth Hormone Homo sapiens Male Pituitary Gland, Anterior Thyroid Hormones
10
(32.7%)
1604748
[Epiphyseal dysplasia of the femoral head in monozygotic twins].
Jorgensen PH, Pedersen CB, Hougaard K.
Ugeskr Laeger. 1992;154(17):1189-90.
Epiphyseal dysplasia Dysplasia of the femoral head
Child, Preschool Differential Diagnosis Diseases in Twins Females Homo sapiens Osteochondrodysplasias
15
(32.2%)
23913778
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.
Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A.
Am J Med Genet A. 2013;161A(9):2216-25.
Gynecomastia Cone-shaped epiphysis
EXT1 GH1 TRPS1
Adult Child Child, Preschool Chromosome Banding Chromosome Mapping Facies Follow-Up Studies Homo sapiens Langer-Giedion Syndrome Male Middle Aged Phenotype Young Adult
15
(32.2%)
15346299
[Epiphyseal dysplasia--symptoms and differential diagnostic aspects].
Kohler G, Hesse B.
Z Orthop Ihre Grenzgeb. 2004;142(4):397-402.
Skeletal dysplasia Epiphyseal dysplasia
Child Differential Diagnosis Homo sapiens Legg-Calve-Perthes Disease Mucopolysaccharidoses Osteochondrodysplasias Severity of Illness Index
15
(32.2%)
6814560
Maroteaux-Lamy syndrome, mild form--MPS vi b.
Paterson DE, Harper G, Weston HJ, Mattingley J.
Br J Radiol. 1982;55(659):805-12.
Hypothyroidism Epiphyseal dysplasia
Differential Diagnosis Females Hand Homo sapiens Leg Male Mucopolysaccharidoses Mucopolysaccharidosis VI Pelvic Bones
15
(32.2%)
598116
Avascular necrosis of the femoral head in children under the age of three.
Herold HZ.
Clin Orthop Relat Res. 1977;(126):193-5.
Epiphyseal dysplasia
Child, Preschool Congenital Dysplasia Of The Hip Femur Head Necrosis Homo sapiens Legg-Calve-Perthes Disease Male
19
(31.0%)
2966861
Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip.
Garrett C, Tripp JH.
J Med Genet. 1988;25(4):270-2.
Syndactyly
Child Femur Head Necrosis Fingers Hair Homo sapiens Intellectual Disability Legg-Calve-Perthes Disease Male Syndrome Toes
20
(30.2%)
16612620
A transepiphyseal fracture of the proximal femur combined with a fracture of the mid-shaft of ipsilateral femur in a child: a case report and literature review.
Akahane T, Fujioka F, Shiozawa R.
Arch Orthop Trauma Surg. 2006;126(5):330-4.
Coxa vara
Child, Preschool Females Femoral Neck Fractures Femur Head Necrosis Fracture Fixation, Internal Homo sapiens Orthotic Devices
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0001373 Joint dislocation Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010885 Avascular necrosis Very frequent (99-80%)
HP:0100773 Cartilage destruction Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 43

HPO ID Term # of case reports
HP:0003095 Septic arthritis 6
HP:0100769 Synovitis 5
HP:0002656 Epiphyseal dysplasia 4
HP:0002754 Osteomyelitis 4
HP:0002655 Spondyloepiphyseal dysplasia 3
HP:0030838 Hip pain 3
HP:0000821 Hypothyroidism 2
HP:0001369 Arthritis 2
HP:0001909 Leukemia 2
HP:0002758 Osteoarthritis 2
HP:0002812 Coxa vara 2
HP:0008807 Acetabular dysplasia 2
HP:0000100 Nephrotic syndrome 1
HP:0000252 Microcephaly 1
HP:0000324 Facial asymmetry 1
HP:0000639 Nystagmus 1
HP:0000819 Diabetes mellitus 1
HP:0000979 Purpura 1
HP:0001159 Syndactyly 1
HP:0001250 Seizures 1
HP:0001385 Hip dysplasia 1
HP:0001513 Obesity 1
HP:0002301 Hemiplegia 1
HP:0002650 Scoliosis 1
HP:0002721 Immunodeficiency 1
HP:0002808 Kyphosis 1
HP:0002827 Hip dislocation 1
HP:0002857 Genu valgum 1
HP:0002944 Thoracolumbar scoliosis 1
HP:0003302 Spondylolisthesis 1
HP:0003304 Spondylolysis 1
HP:0008843 Hip osteoarthritis 1
HP:0010740 Osteopathia striata 1
HP:0011002 Osteopetrosis 1
HP:0012062 Bone cyst 1
HP:0030431 Osteochondroma 1
HP:0030772 Proximal femoral focal deficiency 1
HP:0030836 Wrist pain 1
HP:0030839 Knee pain 1
HP:0100259 Postaxial polydactyly 1
HP:0100646 Thyroiditis 1
HP:0100777 Exostoses 1
HP:0100806 Sepsis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL2A1 collagen type II alpha 1 chain 1280