Disease #01330 (FOP (fibrodysplasia ossificans progressiva (FOP)), OMIM:135100)

Official abbreviation FOP
Name fibrodysplasia ossificans progressiva (FOP)
OMIM ID 135100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 162
Phenotype entries for this disease 162
Associated with 1 gene ACVR1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

162 entries on 2 pages. Showing entries 1 - 100.
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00204342 - - - - - - - - - - - FOP, Healthy/Control - ACVR1 ACVR1 1 16 LOVD
00204346 Fam1;FamA PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 4 affected (2F, 2M) F - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 4 LOVD
00204349 patient PubMed: Ratbi 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Morocco - - - - - FOP see paper; ... ACVR1 ACVR1 1 1 LOVD
00204352 - - - F - El Salvador - - - - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 1 LOVD
00204356 Pat17 PubMed: Carvalho 2010 - F - Brazil - - - - - FOP 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; short broad femoral necks; thumb malformations; hearing impairment; reduction terminal deficits of other digits; absent nail in digits with reduction deficits; postaxial missing digit of both hands; mild cognitive impairment; primary amenorrhea; corpus callosum abnormality ACVR1 ACVR1 1 1 LOVD
00395244 patient PubMed: Hasegawa 2022 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - FOP see paper; ..., syndactyly hands and feet, nail agenesis, mandibular hypoplasia, heterotopic ossification occurring from infancy, congenital cardiac malformation ACVR1 ACVR1 1 1 Kosei Hasegawa
00395245 Fam2;FamB PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 5 affected (4F, M) - - United Kingdom (Great Britain) - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 5 Johan den Dunnen
00395246 Fam4;FamC PubMed: Feldman 2000, PubMed: Shore 2006 2-generation family, affected father/daughter - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 2 Johan den Dunnen
00395247 FamD PubMed: Shore 2006 2-generation family, affected father/2 daughters - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 3 Johan den Dunnen
00395248 FamE PubMed: Shore 2006 2-generation family, affected father/son/daughters - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 3 Johan den Dunnen
00395249 FamF PubMed: Shore 2006 family - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395250 FamG PubMed: Shore 2006 family - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395251 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395252 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395253 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395254 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395255 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395256 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395257 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395258 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395259 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395260 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395261 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395262 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395263 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395264 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395265 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395266 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395267 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395268 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395269 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395270 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395271 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395272 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395273 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395274 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395275 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395276 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395277 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395278 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395279 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395280 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395281 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395282 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395283 patient PubMed: Lin 2006 2-generation family, 1 affected, unaffected non-carrier parent F - Taiwan - - - - - FOP see paper; ... ACVR1 ACVR1 1 1 Johan den Dunnen
00395284 FOP1 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - FOP see paper; ..., abnormal great toe, short thumb ACVR1 ACVR1 1 1 Johan den Dunnen
00395285 FOP2 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - FOP see paper; ..., scalp baldness, abnormal great toe ACVR1 ACVR1 1 1 Johan den Dunnen
00395286 FOP3 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent F - Japan - - - - - FOP see paper; ..., short broad femoral neck, abnormal great toe, short thumb ACVR1 ACVR1 1 1 Johan den Dunnen
00395287 FOP1 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395288 FOP2 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 15m-onset ossification, great toe malformation, hydrocephalus secondary to posterior bulbar expansive lesion of unknown origin (surgical correction) ACVR1 ACVR1 1 1 Johan den Dunnen
00395289 FOP3 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 4y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395290 FOP4 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 20m-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395291 FOP5 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 8y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395292 FOP6 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 6y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395293 FOP7 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 11y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395294 FOP8 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 11y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395295 FOP9 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 3y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395296 FOP10 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 14y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395297 FOP11 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 6m-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395298 FOP12 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 4y-onset ossification, no great toe malformation ACVR1 ACVR1 2 1 Johan den Dunnen
00395299 FOP13 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 5y-onset ossification, great toe malformation, episodic seizures ACVR1 ACVR1 1 1 Johan den Dunnen
00395300 FOP14 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 4y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395301 FOP15 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 6y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395302 FOP16 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395303 FOP17 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 14y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395304 Pat1 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 3y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; aplastic anemia; ACVR1 ACVR1 1 1 Johan den Dunnen
00395305 Pat2 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 14y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; polyostotic fibrous dysplasia; ACVR1 ACVR1 1 1 Johan den Dunnen
00395306 Pat3 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 4m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); craniopharygioma; ACVR1 ACVR1 1 1 Johan den Dunnen
00395307 Pat4 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; thumb malformations (short 1st metacarpal, +/- monophalangism); sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; childhood glaucoma; ACVR1 ACVR1 1 1 Johan den Dunnen
00395308 Pat5 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 9y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; cataracts; retinal detachment; childhood glaucoma; diffuse cerebral dysfunction, seizures; ACVR1 ACVR1 1 1 Johan den Dunnen
00395309 Pat6 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 1y6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation; ACVR1 ACVR1 1 1 Johan den Dunnen
00395310 Pat7 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation; ACVR1 ACVR1 1 1 Johan den Dunnen
00395311 Pat8 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 26y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); distal femoral osteochondroma; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); normal right great toe, minor changes in 1st left metatarsal; intra-articular synovial osteochondromatosis of hips, DJD hips; anatomic abnormalities of cerebellum; ACVR1 ACVR1 1 1 Johan den Dunnen
00395312 Fam9PatII2 PubMed: Kaplan 2019 2-generation family, 3 affected, mother/2 daughters F - - - - - - - FOP see paper; ..., 22y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, no ntra-articular synovial osteochondromatosis hip, radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; ACVR1 ACVR1 1 3 Johan den Dunnen
00395313 Fam9PatIII1 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., no heterotopic ossification, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, minor congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; ACVR1 ACVR1 1 1 Johan den Dunnen
00395314 Fam9PatIII2 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 13y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, intra-articular synovial osteochondromatosis hip, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; ACVR1 ACVR1 1 1 Johan den Dunnen
00395315 Pat10 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 21y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; short broad femoral necks; characteristic short monophalangic great toe, missing middle phalanges of 4th and 5th toes bilaterally; intra-articular synovial osteochondromatosis of hips, DJD hips; cerebral cavernous malformations ACVR1 ACVR1 1 1 Johan den Dunnen
00395316 Pat11 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; anatomic abnormalities of cerebellum; ACVR1 ACVR1 1 1 Johan den Dunnen
00395317 Pat12 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 8y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; ACVR1 ACVR1 1 1 Johan den Dunnen
00395318 Pat13 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; ACVR1 ACVR1 1 1 Johan den Dunnen
00395319 Pat14 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; ACVR1 ACVR1 1 1 Johan den Dunnen
00395320 Pat15 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); persistence of primary teeth in adulthood; primary amenorrhea; ACVR1 ACVR1 1 1 Johan den Dunnen
00395321 Pat16 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 4m-onset heterotopic ossification; characteristic malformations right great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism) ; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of left digits ; absent finger/toe nails in left digits with severe reduction deficits; hypospadias; ACVR1 ACVR1 1 1 Johan den Dunnen
00395322 Pat17 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., heterotopic ossification; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; mild cognitive impairment; ACVR1 ACVR1 1 1 Johan den Dunnen
00395323 Pat18 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 15y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); primary amenorrhea; ACVR1 ACVR1 1 1 Johan den Dunnen
00395324 Pat19 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 14y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; normal or minimal changes in great toes; ACVR1 ACVR1 1 1 Johan den Dunnen
00395325 Pat20 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 11y6m-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; normal or minimal changes in great toes; ACVR1 ACVR1 1 1 Johan den Dunnen
00395326 patients PubMed: Kaplan 2019 64 classic FOP patients F;M - - - - - - - FOP see paper; ..., 1-10y-onset heterotopic ossification; 1.00 characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); 1.00 progressive heterotopic ossification in characteristic anatomic patterns; 0.50 conductive hearing impairment; 0.80 cervical spine malformations i(ntra-articular ankylosis facet joints, early degenerative changes cervical spine); 0.90 proximal medial tibial osteochondromas; 0.70 short broad femoral necks; 0.50 thumb malformations (short 1st metacarpal, +/- monophalangism) ACVR1 ACVR1 1 64 Johan den Dunnen
00395327 patient PubMed: Furuya 2008 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - FOP see paper; ..., normal birth, 10y-difficulty moving shoulder due to contractures both shoulder joints; joint contractures progressed slowly in extremities; 36y-unable to walk; 55y-bedridden, rigid spine, baldness, sensory hearing-loss, abnormal ossification, no respiratory failure; severe hypodactyly, short thumbs both hands, severe defect both great toes; no neurological anomalies, joint contractures, abnormal ossification; X-ray/3D-tomography extensive heterotopic bone formation, rigid spine, very short first metacarpal bones, toe malformations, defect of ossa digitorum both great toes ACVR1 ACVR1 1 1 Johan den Dunnen
00395328 Pat1 PubMed: Petrie 2009 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ..., painful bony lump over right scapula after fall, one short great toe; developed multiple tender bony swellings; fixed flexion deformities both elbows, lumbar spinal movements restricted; frequent flares of condition with increased inflammatory lesions over shoulder joints, neck, and jaw; fusion neck within 6 months of clinical presentation ACVR1 ACVR1 1 1 Johan den Dunnen
00395329 Pat2 PubMed: Petrie 2009 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ..., birth severe reduction deformities all digits; 6y-lumps, usually painful, on occiput, stiff spine, stiff shoulders; 14y-both elbows and right hip ectopic ossification; 18y-left hip ectopic ossification; 20y-ossification jaw after dental extraction; 26y-complete spinal fixation, shoulders fixed in adduction, elbows fixed in flexion, hip movement restricted and fixed in slight flexion, jaw gape 0.3cm; mild cognitive impairment, diffuse scalp, 14y-onset hair thinning ACVR1 ACVR1 1 1 Johan den Dunnen
00395330 patient PubMed: Barnett 2011 - F - Australia - - - - - FOP see paper; ..., 21y-stiff back, X-ray lumbar spine normal ACVR1 ACVR1 1 1 Johan den Dunnen
00395331 patient PubMed: Gregson 2011 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ... ACVR1 ACVR1 1 1 Johan den Dunnen
00395332 patient PubMed: Nakahara 2014 - M - Japan - - - - - FOP see paper; ..., heterotopic ossification, no malformation great toes, normal development from birth; 17y-heterotopic ossification lumbar area; delayed onset, slower and mild clinical course, little finger camptodactyly ACVR1 ACVR1 1 1 Johan den Dunnen
00395333 Pat1 PubMed: Sun 2009 - M - China - - - - - FOP see paper; ... ACVR1 ACVR1 1 1 Johan den Dunnen
00395334 Pat2 PubMed: Sun 2009 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - FOP see paper; ... ACVR1 ACVR1 1 1 Johan den Dunnen
00395335 Pat1 PubMed: Lee 2009 - M - Korea - - - - - FOP great toe abnormality; no migrating nodule; no ankylosis; currently normal life ACVR1 ACVR1 1 1 Johan den Dunnen
00395336 Pat2 PubMed: Lee 2009 - F - Korea - - - - - FOP great toe abnormality; migrating nodule;16y-onset ossification; ankylosis neck; currently community ambulator ACVR1 ACVR1 1 1 Johan den Dunnen
00395337 Pat3 PubMed: Lee 2009 - F - Korea - - - - - FOP great toe abnormality; migrating nodule;10y-onset ossification; ankylosis whole body; currently bed-ridden ACVR1 ACVR1 1 1 Johan den Dunnen
00395338 Pat4 PubMed: Lee 2009 - F - Korea - - - - - FOP great toe abnormality; no migrating nodule;6y-onset ossification; ankylosis neck, shoulder, back, hip, knee; currently wheel-chair bound ACVR1 ACVR1 1 1 Johan den Dunnen
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