Clinical Signs and Symptoms
ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
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.
- Cafe-au-lait spot HP:0000957
- Hypertelorism HP:0000316
Very frequent
- Abnormal facial shape HP:0001999
- Abnormal heart morphology HP:0001627
- Abnormality of the skeletal system HP:0000924
- Attention deficit hyperactivity disorder HP:0007018
- Axillary freckling HP:0000997
- Bone cyst HP:0012062
- Brain imaging abnormality HP:0410263
- Broad neck HP:0000475
- Coarse facial features HP:0000280
- Inguinal freckling HP:0030052
- Joint hypermobility HP:0001382
- Large hands HP:0001176
- Lisch nodules HP:0009737
- Long foot HP:0001833
- Macrocephaly HP:0000256
- Muscular hypotonia HP:0001252
- Neurodevelopmental delay HP:0012758
- Proportionate tall stature HP:0011407
- Scoliosis HP:0002650
- Specific learning disability HP:0001328
- Speech articulation difficulties HP:0009088
- Subcutaneous neurofibromas HP:0100698
Frequent
- Abnormal renal morphology HP:0012210
- Abnormality of the dental pulp HP:0006479
- Abnormality of the sphenoid sinus HP:0430022
- Epicanthus HP:0000286
- Facial asymmetry HP:0000324
- Genu valgum HP:0002857
- Global developmental delay HP:0001263
- High palate HP:0000218
- Hypoplasia of the corpus callosum HP:0002079
- Hypotelorism HP:0000601
- Impaired visuospatial constructive cognition HP:0010794
- Intellectual disability HP:0001249
- Long face HP:0000276
- Long philtrum HP:0000343
- Micrognathia HP:0000347
- Narrow forehead HP:0000341
- Neurofibrosarcoma HP:0100697
- Optic nerve glioma HP:0009734
- Pectus excavatum HP:0000767
- Pes cavus HP:0001761
- Prominent glabella HP:0002057
- Protruding ear HP:0000411
- Seizures HP:0001250
- Short stature HP:0004322
- Spinal neurofibromas HP:0009735
- Thick vermilion border HP:0012471
Occasional
- Abnormality of tibia morphology HP:0002992
- Atrial septal defect HP:0001631
- Granuloma HP:0032252
- Headache HP:0002315
- Hemangioma HP:0001028
- Hydrocephalus HP:0000238
- Hydronephrosis HP:0000126
- Hyperlordosis HP:0003307
- Hypertrophic cardiomyopathy HP:0001639
- Kyphoscoliosis HP:0002751
- Lower limb dysmetria HP:0020035
- Macule HP:0012733
- Mitral regurgitation HP:0001653
- Mitral valve prolapse HP:0001634
- Ossifying fibroma HP:0030426
- Patent foramen ovale HP:0001655
- Pulmonic stenosis HP:0001642
- Renal hypoplasia/aplasia HP:0008678
- Schwannoma HP:0100008
- Sinusitis HP:0000246
- Ventricular septal defect HP:0001629
Rare
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.