Orphanet: Clinical Signs and Symptoms

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.

Diagnostic criterion *

Ankyloblepharon HP:0009755

Curly hair HP:0002212

Nail dysplasia HP:0002164

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Very frequent

Ankyloblepharon HP:0009755
Curly hair HP:0002212
Nail dysplasia HP:0002164

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

Occasional

Short fifth metatarsal HP:0004704

Exclusion criterion *

Motor delay HP:0001270
Skin erosion HP:0200041

* Phenotypic abnormalities noted as « exclusion criterion » are those that are always absent in a particular disease and therefore exclude its diagnosis.

Additional information

Further information

Disease(s)/group of diseases

Specialised Social Services

Eurordis directory

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.