Clinical Signs and Symptoms
ORPHA:2752 Orofaciodigital syndrome type 3
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 involuntary eye movements HP:0012547
- Abnormality of the dentition HP:0000164
- Bifid uvula HP:0000193
- Bulbous nose HP:0000414
- Cerebellar vermis hypoplasia HP:0001320
- Dandy-Walker malformation HP:0001305
- Exotropia HP:0000577
- Eyelid myoclonias HP:0011168
- Hamartoma of tongue HP:0011802
- Hypertelorism HP:0000316
- Intellectual disability, severe HP:0010864
- Irregular dentition HP:0040079
- Lobulated tongue HP:0000180
- Low-set ears HP:0000369
- Myoclonus HP:0001336
- Oculomotor apraxia HP:0000657
- Pectus excavatum HP:0000767
- Postaxial foot polydactyly HP:0001830
- Postaxial hand polydactyly HP:0001162
- Short sternum HP:0000879
- Spasticity HP:0001257
- Stage 5 chronic kidney disease HP:0003774
- Suprasellar arachnoid cyst HP:0012489
- Thoracic kyphosis HP:0002942
Frequent
- Cherry red spot of the macula HP:0010729
- Seesaw nystagmus HP:0012044
Occasional
- Abnormality of hair texture HP:0010719
- Abnormality of skeletal morphology HP:0011842
- Abnormality of the cardiovascular system HP:0001626
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.