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Progressive myositis ossificans(FOP)

MedGen UID:
4698
Concept ID:
C0016037
Disease or Syndrome
Synonyms: Fibrodysplasia Ossificans Progressiva; FOP; Myositis ossificans; Myositis ossificans progressiva; Progressive ossifying myositis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not genetically inherited
MedGen UID:
832438
Concept ID:
CN227390
Finding
Source: Orphanet
clinical entity without genetic inheritance.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Fibrodysplasia ossificans progressiva (82725007); FOP - Fibrodysplasia ossificans progressiva (82725007); Fibrodysplasia ossificans congenita (82725007); Progressive myositis ossificans (82725007); Münchmeyer disease (82725007); Diffuse progressive ossifying polymyositis (82725007); Myositis ossificans progressiva (82725007)
 
Gene (location): ACVR1 (2q24.1)
OMIM®: 135100
Orphanet: ORPHA337

Definition

Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009). [from OMIM]

Additional description

From GHR
Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza.People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.  https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva

Clinical features

From HPO
Hamartoma
MedGen UID:
6713
Concept ID:
C0018552
Neoplastic Process
A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
IQ 50-70.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
A deformity characterized by lateral deviation of the great toe.
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Abnormality of the first metatarsal bone
MedGen UID:
869654
Concept ID:
C4024082
Anatomical Abnormality
An anomaly of the first metatarsal bone.
Respiratory failure
MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
A deformity characterized by lateral deviation of the great toe.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
A congenital or acquired spinal deformity characterized by lateral curvature of the spine.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Progressive cervical vertebral spine fusion
MedGen UID:
341933
Concept ID:
C1851129
Finding
Small cervical vertebral bodies
MedGen UID:
341934
Concept ID:
C1851130
Finding
Reduced size of cervical vertebrae.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Ectopic ossification in ligament tissue
MedGen UID:
868691
Concept ID:
C4023094
Anatomical Abnormality
Formation of abnormal bony tissue within ligament tissue.
Ectopic ossification in tendon tissue
MedGen UID:
868692
Concept ID:
C4023095
Pathologic Function
Formation of abnormal bony tissue within tendon tissue.
Ectopic ossification in muscle tissue
MedGen UID:
868693
Concept ID:
C4023096
Pathologic Function
Formation of abnormal bony tissue within muscle tissue.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
Absence of hair from areas where it is normally present.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive myositis ossificans
Follow this link to review classifications for Progressive myositis ossificans in Orphanet.

Recent clinical studies

Diagnosis

Khan SA, Zahid M, Asif N, Gogi N
Acta Orthop Belg 2001 Feb;67(1):86-9. PMID: 11284280

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