Clinical Signs and Symptoms
ORPHA:634 Netherton 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.
- Abnormality of the hair HP:0001595
- Acanthosis nigricans HP:0000956
- Asthma HP:0002099
- Congenital nonbullous ichthyosiform erythroderma HP:0007479
- Eczema HP:0000964
- Fine hair HP:0002213
- Ichthyosis HP:0008064
- Immunologic hypersensitivity HP:0100326
- Increased circulating IgE level HP:0003212
- Irregular hyperpigmentation HP:0007400
- Malabsorption HP:0002024
- Sparse scalp hair HP:0002209
- Trichorrhexis nodosa HP:0009886
- Urticaria HP:0001025
Very frequent
- Decreased circulating antibody level HP:0004313
- Emphysema HP:0002097
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
- Recurrent respiratory infections HP:0002205
- Seizure HP:0001250
Frequent
- Aminoaciduria HP:0003355
- Dehydration HP:0001944
- Dry skin HP:0000958
- Ectopic kidney HP:0000086
- Erythroderma HP:0001019
- Hydronephrosis HP:0000126
- Recurrent infections HP:0002719
- Short stature HP:0004322
- Skin rash HP:0000988
- Sparse eyebrow HP:0000535
- Sparse eyelashes HP:0000653
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.