Clinical Signs and Symptoms
ORPHA:90650 Otopalatodigital syndrome type 1
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.
- Anodontia HP:0000674
- Cleft palate HP:0000175
- Depressed nasal bridge HP:0005280
- Downslanted palpebral fissures HP:0000494
- Hearing impairment HP:0000365
- Hypertelorism HP:0000316
- Intellectual disability, mild HP:0001256
- Limitation of joint mobility HP:0001376
- Oligodontia HP:0000677
- Prominent supraorbital ridges HP:0000336
- Sandal gap HP:0001852
- Short hallux HP:0010109
- Skeletal dysplasia HP:0002652
- Wide nasal bridge HP:0000431
- Abnormality of the metacarpal bones HP:0001163
- Bowing of the long bones HP:0006487
- Elbow dislocation HP:0003042
- Hypoplastic frontal sinuses HP:0002738
- Increased bone mineral density HP:0011001
- Proximal placement of thumb HP:0009623
- Short distal phalanx of finger HP:0009882
- Short palm HP:0004279
- Short thumb HP:0009778
- Thickened calvaria HP:0002684
Specialised Social Services
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.