Clinical Signs and Symptoms
ORPHA:1401 CHAND 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.
- Ankyloblepharon HP:0009755
- Curly hair HP:0002212
- Nail dysplasia HP:0002164
Very frequent
- Abnormal oral frenulum morphology HP:0000190
- Agenesis of maxillary incisor HP:0200160
- Agenesis of permanent teeth HP:0006349
- Ataxia HP:0001251
- Atelectasis HP:0100750
- Bifid tongue HP:0010297
- Cleft palate HP:0000175
- Commissural lip pit HP:0002710
- Depressed nasal bridge HP:0005280
- Dry skin HP:0000958
- Hydroureter HP:0000072
- Hypertelorism HP:0000316
- Hypohidrosis HP:0000966
- Imperforate hymen HP:0030011
Frequent
- Short fifth metatarsal HP:0004704
Occasional
- Motor delay HP:0001270
- Skin erosion HP:0200041
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.