Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.



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Narrow down the case reports



Total: 139 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(51.6%)
21465984
Fibrodysplasia ossificans progressiva.
Shaikh N, Arif F.
J Pak Med Assoc. 2011;61(4):397-9.
Short thumb
Child Hallux Valgus Homo sapiens Male Myositis Ossificans
1
(51.6%)
20349070
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies.
Ulusoy H.
Rheumatol Int. 2012;32(5):1379-82.
Hallux valgus Short thumb
Adult Biomechanical Phenomena Bone Density Conservation Agents Bone and Bones Drug Administration Schedule Heterotopic Ossification Homo sapiens Male Muscle Strength Myositis Ossificans Physical Therapy Modalities Predictive Value of Tests
3
(46.6%)
24868261
(4034297)
Clinical, evolution and therapeutical considerations upon a case of fibrodysplasia ossificans progressiva (FOP).
Rogoveanu O, Traistaru R, Streba CT, Stoica Z, Popescu R.
J Med Life. 2013;6(4):454-8.
Fever Short hallux
Adult Females Homo sapiens Magnetic Resonance Imaging Myositis Ossificans
4
(45.4%)
30984411
Bilateral fibrodysplasia ossificans affecting the masticatory muscles and causing irreversible trismus in a domestic shorthair cat.
Guzu M, Gaillot HA, Rosati M, Nicolier A, Hennet PR.
JFMS Open Rep. 2019;5(1):2055116919839857.
Trismus Open bite
4
(45.4%)
30373608
(6206835)
Myositis ossificans traumatica of the masticatory muscles: etiology, diagnosis and treatment.
Hanisch M, Hanisch L, Frohlich LF, Werkmeister R, Bohner L, Kleinheinz J.
Head Face Med. 2018;14(1):23.
Trismus Periodontitis
Adult Females Homo sapiens Male Myositis Ossificans Oral Surgical Procedures
4
(45.4%)
29730069
Severe trismus and contraindicated exodontia in a patient with fibrodysplasia ossificans progressiva: case report.
Geddis-Regan A.
Br J Oral Maxillofac Surg. 2018;56(5):427-429.
Trismus Carious teeth
Adult Contraindications, Procedure Homo sapiens Male Myositis Ossificans Patient Care Team Referral and Consultation Tooth Extraction Trismus
7
(45.4%)
27232676
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A.
Am J Med Genet A. 2016;170(8):2191-5.
Pierre-Robin sequence Temporomandibular joint ankylosis
Ankylosis Facies Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Mobius Syndrome Myopathy Phenotype Physical Examination Pierre Robin Syndrome Temporomandibular Joint Disorders Tomography, Spiral Computed
8
(42.7%)
30582158
Simulation-Guided Tracheotomy in a Patient With Fibrodysplasia Ossificans Progressiva.
Padia R, Miller C, Patak L, Friedman SD, Stone K, Otjen J, Johnson K.
Laryngoscope. 2019;129(4):812-817.
Trismus
Child Females Homo sapiens Myositis Ossificans Printing, Three-Dimensional X-Ray Computed Tomography
8
(42.7%)
28797219
Unresolving trismus following third molar surgery: Report of a case of fibrodysplasia ossificans progressiva with review of literature.
Rajanikanth BR, Prasad K, Vineeth K, Sonale SMN, Al-Kubra K.
Cranio. 2018;36(5):341-349.
Trismus
Adult Heterotopic Ossification Homo sapiens Male Myositis Ossificans Postoperative Complications Severity of Illness Index Temporomandibular Joint Trismus
8
(42.7%)
25425787
(4234798)
Emergent airway management in a case of fibrodysplasia ossificans progressiva.
Parekh UR, Read S, Desai V, Budde AO.
J Anaesthesiol Clin Pharmacol. 2014;30(4):565-7.
Thoracolumbar kyphoscoliosis Temporomandibular joint ankylosis
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0003306 Spinal rigidity Very frequent (99-80%)
HP:0003468 Abnormal vertebral morphology Very frequent (99-80%)
HP:0010054 Abnormality of the first metatarsal bone Very frequent (99-80%)
HP:0010109 Short hallux Very frequent (99-80%)
HP:0011987 Ectopic ossification in muscle tissue Very frequent (99-80%)
HP:0011989 Ectopic ossification in ligament tissue Very frequent (99-80%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux Frequent (79-30%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001822 Hallux valgus Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0100240 Synostosis of joints Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 25

HPO ID Term # of case reports
HP:0011986 Ectopic ossification 8
HP:0100614 Myositis 6
HP:0031013 Ankylosis 5
HP:0001822 Hallux valgus 4
HP:0000473 Torticollis 2
HP:0002650 Scoliosis 2
HP:0002754 Osteomyelitis 2
HP:0003761 Calcinosis 2
HP:0007618 Subcutaneous calcification 2
HP:0008443 Spinal deformities 2
HP:0100242 Sarcoma 2
HP:0000211 Trismus 1
HP:0001009 Telangiectasia 1
HP:0001059 Pterygium 1
HP:0001156 Brachydactyly 1
HP:0002592 Gastric ulcer 1
HP:0002756 Pathologic fracture 1
HP:0011838 Sclerodactyly 1
HP:0025027 Osteoma cutis 1
HP:0025615 Abscess 1
HP:0030431 Osteochondroma 1
HP:0030833 Neck pain 1
HP:0030838 Hip pain 1
HP:0032245 Abnormal metabolism 1
HP:0100959 Dense metaphyseal bands 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ACVR1 activin A receptor type 1 90