Clinical Signs and Symptoms
ORPHA:3440 Waardenburg 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.
- Abnormal facial shape HP:0001999
- Abnormality of skin pigmentation HP:0001000
- Abnormality of vision HP:0000504
- Conductive hearing impairment HP:0000405
- Hearing impairment HP:0000365
- Heterochromia iridis HP:0001100
- Hypopigmentation of hair HP:0005599
- Hypopigmented skin patches HP:0001053
- Premature graying of hair HP:0002216
- Prominent nasal bridge HP:0000426
- Synophrys HP:0000664
Very frequent
- Abnormal eyebrow morphology HP:0000534
- Abnormal lip morphology HP:0000159
- Abnormality of the eye HP:0000478
- Abnormality of the face HP:0000271
- Abnormality of the mouth HP:0000153
- Lacrimation abnormality HP:0000632
- Telecanthus HP:0000506
- Underdeveloped nasal alae HP:0000430
- White forelock HP:0002211
- Wide nasal bridge HP:0000431
Frequent
- Abnormality of the gastrointestinal tract HP:0011024
- Abnormality of the uterus HP:0000130
- Abnormality of the vagina HP:0000142
- Aganglionic megacolon HP:0002251
- Aplasia/Hypoplasia of the colon HP:0100811
- Intestinal obstruction HP:0005214
- Myelomeningocele HP:0002475
- Orofacial cleft HP:0000202
- Ptosis HP:0000508
Occasional
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.