Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:168984 CLAPO 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 *

Capillary hemangioma HP:0005306

Capillary malformation of the lip HP:0031487

* 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

Always present

Capillary hemangioma HP:0005306
Capillary malformation of the lip HP:0031487

Very frequent

Hemihypertrophy HP:0001528
Lymphangioma HP:0100764
Nevus flammeus HP:0001052
Overgrowth HP:0001548

Frequent

Asymmetric growth HP:0100555
Facial asymmetry HP:0000324
Failure to thrive HP:0001508
Hemihypertrophy of lower limb HP:0100553
Hemihypertrophy of upper limb HP:0100554
Lymphedema HP:0001004
Macrodactyly HP:0004099
Varicose veins HP:0002619
Venous malformation HP:0012721

Occasional

Narrow chest HP:0000774
Pectus excavatum HP:0000767
Tall stature HP:0000098

Rare

Ganglioneuroma HP:0003005

Exclusion criterion *

Intellectual disability HP:0001249

* 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.