Clinical Signs and Symptoms
ORPHA:1340 Cardiofaciocutaneous 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.
- Abnormal eyelash morphology HP:0000499
- Abnormal heart valve morphology HP:0001654
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of the eye HP:0000478
- Abnormality of vision HP:0000504
- Anteverted nares HP:0000463
- Aplasia/Hypoplasia of the eyebrow HP:0100840
- Atrial septal defect HP:0001631
- Brittle hair HP:0002299
- Coarse facial features HP:0000280
- Dry skin HP:0000958
- Excessive wrinkled skin HP:0007392
- Failure to thrive in infancy HP:0001531
- Feeding difficulties in infancy HP:0008872
- Fine hair HP:0002213
- Full cheeks HP:0000293
- Global developmental delay HP:0001263
- Hypotonia HP:0001252
- Intellectual disability HP:0001249
- Long face HP:0000276
- Long palpebral fissure HP:0000637
- Neurological speech impairment HP:0002167
- Palmoplantar keratoderma HP:0000982
- Pulmonic stenosis HP:0001642
- Short stature HP:0004322
- Thickened helices HP:0000391
- Underdeveloped supraorbital ridges HP:0009891
Very frequent
- Abnormality of the ulna HP:0002997
- Biparietal narrowing HP:0004422
- Cavernous hemangioma HP:0001048
- Cryptorchidism HP:0000028
- Deep palmar crease HP:0006191
- Depressed nasal bridge HP:0005280
- Downslanted palpebral fissures HP:0000494
- Dystrophic fingernails HP:0008391
- EEG abnormality HP:0002353
- Epicanthus HP:0000286
- Frontal bossing HP:0002007
- Generalized hyperpigmentation HP:0007440
- High forehead HP:0000348
- High palate HP:0000218
- Hyperextensible skin HP:0000974
- Hyperkeratosis HP:0000962
- Hypertelorism HP:0000316
- Hypoplasia of the zygomatic bone HP:0010669
- Ichthyosis HP:0008064
- Long philtrum HP:0000343
- Low posterior hairline HP:0002162
- Low-set, posteriorly rotated ears HP:0000368
- Macrocephaly HP:0000256
- Macrotia HP:0000400
- Multiple cafe-au-lait spots HP:0007565
- Multiple lentigines HP:0001003
- Myopia HP:0000545
- Nystagmus HP:0000639
- Pectus excavatum HP:0000767
- Premature birth HP:0001622
- Ptosis HP:0000508
- Scoliosis HP:0002650
- Short neck HP:0000470
- Short nose HP:0003196
- Slow-growing hair HP:0002217
- Sparse hair HP:0008070
- Sparse or absent eyelashes HP:0200102
- Strabismus HP:0000486
- Webbed neck HP:0000465
Frequent
- Abnormality of the gastrointestinal tract HP:0011024
- Cerebral cortical atrophy HP:0002120
- Cubitus valgus HP:0002967
- Dysarthria HP:0001260
- Functional abnormality of the gastrointestinal tract HP:0012719
- Genu valgum HP:0002857
- Hydrocephalus HP:0000238
- Hydronephrosis HP:0000126
- Hypertrophic cardiomyopathy HP:0001639
- Lymphedema HP:0001004
- Optic atrophy HP:0000648
- Redundant skin HP:0001582
- Submucous cleft hard palate HP:0000176
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.