Waardenburg Syndrome [Waardenburgův syndrom]

topical
10
Terms

Kleinův-Waardenburgův syndrom
Waardenburgův syndrom I. typu
Waardenburgův syndrom III. typu

 

Klein Syndrome
Klein-Waardenburg Syndrome
Klein's Syndrome
Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 3
Waardenburg Syndrome with Dystopia Canthorum
Waardenburg Syndrome with Upper Limb Anomalies
Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3
Waardenburg Syndrome, Type III
Waardenburg-Klein Syndrome
Waardenburg's Syndrome
Waardenburg's Syndrome Type 1
White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations

Persistent link   https://www.medvik.cz/link/D014849
Definition

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

DUI
D014849 MeSH Browser
CUI
M0022860
History note
2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012
Public note
2013; see ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012

C Diseases
C01 Infections 2 027
C04 Neoplasms 12 832
C11 Eye Diseases 1 495
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.137 Bloom Syndrome 11
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.970 Zellweger Syndrome 10

ABCD syndrome Disease MeSH Browser

Anophthalmos with limb anomalies Disease MeSH Browser

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Disease MeSH Browser

Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome Disease MeSH Browser

Waardenburg Syndrome, Type 2C Disease MeSH Browser

Waardenburg Syndrome, Type 2D Disease MeSH Browser

Waardenburg Syndrome, Type 4b Disease MeSH Browser

Waardenburg Syndrome, Type 4c Disease MeSH Browser

Waardenburg syndrome type 2 Disease MeSH Browser

Waardenburg syndrome type 2A Disease MeSH Browser

Waardenburg syndrome type 2B Disease MeSH Browser

Waardenburg syndrome, type 4 Disease MeSH Browser