Clinical Signs and Symptoms
ORPHA:69087 Naegeli-Franceschetti-Jadassohn 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.
- Adermatoglyphia HP:0007455
- Reticulated skin pigmentation HP:0007427
Very frequent
- Abnormality of dental morphology HP:0006482
- Abnormality of the dentition HP:0000164
- Decreased number of sweat glands HP:0007500
- Dry skin HP:0000958
- Fragile nails HP:0001808
- Heat intolerance HP:0002046
- Hypohidrosis HP:0000966
- Malalignment of the great toenail HP:0031282
- Nail dystrophy HP:0008404
- Subungual hyperkeratosis HP:0008392
Frequent
- Acral blistering HP:0031045
- Anhidrosis HP:0000970
- Carious teeth HP:0000670
- Dystrophic toenail HP:0001810
- Flexion contracture of finger HP:0012785
- Generalized reticulate brown pigmentation HP:0007599
- Hyperpigmentation in sun-exposed areas HP:0005586
- Hypopigmentation of the skin HP:0001010
- Hypoplasia of dental enamel HP:0006297
- Increased number of teeth HP:0011069
- Interphalangeal joint contracture of finger HP:0001220
- Milia HP:0001056
- Onycholysis HP:0001806
- Palmoplantar hyperkeratosis HP:0000972
- Premature loss of teeth HP:0006480
- Punctate palmoplantar hyperkeratosis HP:0007530
- Swelling of proximal interphalangeal joints HP:0006253
- Yellow-brown discoloration of the teeth HP:0006286
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.