Clinical Signs and Symptoms
ORPHA:575 Muckle-Wells syndrome
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.
- Arthralgia HP:0002829
- Arthritis HP:0001369
- Broad foot HP:0001769
- Conjunctivitis HP:0000509
- Cranial nerve paralysis HP:0006824
- Episcleritis HP:0100534
- Hepatomegaly HP:0002240
- Progressive sensorineural hearing impairment HP:0000408
- Skin rash HP:0000988
- Splenomegaly HP:0001744
- Uveitis HP:0000554
- Abnormal palate morphology HP:0000174
- Abnormality of the genital system HP:0000078
- Abnormality of the nose HP:0000366
- Abnormality of the voice HP:0001608
- Anemia HP:0001903
- Camptodactyly of finger HP:0100490
- Delayed puberty HP:0000823
- Fever HP:0001945
- Glaucoma HP:0000501
- Hernia of the abdominal wall HP:0004299
- Ichthyosis HP:0008064
- Macrocephaly HP:0000256
- Myalgia HP:0003326
- Optic atrophy HP:0000648
- Pes cavus HP:0001761
- Recurrent aphthous stomatitis HP:0011107
- Restrictive ventilatory defect HP:0002091
- Short stature HP:0004322
- Vasculitis HP:0002633
Specialised Social Services
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.