Clinical Signs and Symptoms
ORPHA:337 Fibrodysplasia ossificans progressiva
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal vertebral morphology HP:0003468
- Abnormality of the first metatarsal bone HP:0010054
- Ectopic ossification in ligament tissue HP:0011989
- Ectopic ossification in muscle tissue HP:0011987
- Limitation of joint mobility HP:0001376
- Short hallux HP:0010109
- Spinal rigidity HP:0003306
- Subcutaneous nodule HP:0001482
Very frequent
- Alopecia HP:0001596
- Aplasia/Hypoplasia of the phalanges of the hallux HP:0010058
- Clinodactyly of the 5th finger HP:0004209
- Hearing impairment HP:0000365
- Respiratory insufficiency HP:0002093
Frequent
- Anemia HP:0001903
- Failure to thrive HP:0001508
- Glaucoma HP:0000501
- Hallux valgus HP:0001822
- Intellectual disability HP:0001249
- Seizure HP:0001250
- Synostosis of joints HP:0100240
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.