Waardenburg syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 47 |
| OrphanetNr: | 3440 |
| OMIM Id: |
148820
193500 193510 600193 606662 608890 611584 |
| ICD-10: |
E70.3 |
| UMLs: |
C0043008 |
| MeSH: |
D014849 |
| MedDRA: |
10069203 |
| Snomed: |
47434006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2.4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Eyebrow/eyelashes pigmentation anomaly
-Rare eye disease -Rare genetic disease Genetic hypopigmentation of the skin -Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Hypopigmentation of the skin -Rare skin disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Pigmentation disorder with eye involvement, excluding albinism -Rare eye disease -Rare genetic disease Syndrome associated with Pierre Robin syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndrome with a symptomatic strabismus -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000142) | Abnormality of the vagina | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Very frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000153) | Abnormality of the mouth | Frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | Frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0000202) | Oral cleft | Occasional [Orphanet] | 120 / 7739 | |||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000534) | Abnormality of the eyebrow | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | Very frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000632) | Lacrimation abnormality | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0001100) | Heterochromia iridis | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000635) | Blue irides | 25 / 7739 | ||||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0002251) | Aganglionic megacolon | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | 212 / 7739 | ||||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0002475) | Myelomeningocele | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0009702) | Carpal synostosis | 26 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0003691) | Scapular winging | 51 / 7739 | ||||
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(HPO:0002250) | Abnormality of the large intestine | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0005214) | Intestinal obstruction | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0007443) | Partial albinism | 8 / 7739 | ||||
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(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0005599) | Hypopigmentation of hair | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002216) | Premature graying of hair | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0002211) | White forelock | 18 / 7739 | ||||
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(HPO:0011365) | Patchy hypopigmentation of hair | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0012851) | Colonic stenosis | Occasional [Orphanet] | 3 / 7739 | |||
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(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
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(HPO:0001452) | Autosomal dominant contiguous gene syndrome | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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