Diagnooseja, jotka aiheuttavat tai joihin saattaa liittyä kuulonäkövamma:
A
Age related deafblindness
Aicardin oireyhtymä
Alportin oireyhtymä
Alströmin oireyhtymä
Apertin oireyhtymä/Akrokefalosyndaktylia Tyyppi I
Asphyksia
B
Bardet-Biedlin oireyhtymä (Laurence Moon-Biedl)
Battenin tauti
C
CP-vamma (Cerebral palsy)
CHARGE oireyhtymä
Chemically Induced
18-Rengaskromosomi oireyhtymä (Chromosome 18, Ring 18)
Cockaynen oireyhtymä
Synnynnäinen vihurirokko-oireyhtymä (Congenital Rubella syndrome (CRS))
Synnynnäinen toksoplasmoosi (Congenital Toxoplasmosis)
Cornelia de Langen oireyhtymä (CdLS)
Cri du chat oireyhtymä eli 5p-monosomia
Crouzonin oireyhtymä (Craniofacial Dysotosis)
Sytomegalovirus (CMV)
D
Dandy Walker syndrome
DIDMOAD (Wolfram syndrome)
Direct Trauma to the eye and/or ear
Down syndrome (Trisomy 21 syndrome)
E
Encephalitis
Ennenaikaisen synnytyksen komplikaatiot
F
Fetal Alcohol syndrome
G
Goldenhar syndrome
H
Hunter syndrome (MPS II)
Hurler syndrome (MPS I-H)
Hydrocephaly
I
Infections
K
Kniest Dysplasia
L
Leber congenital amaurosis
M
Marshall syndrome
Marshall-Smith syndrome
Maternal Drug Use
Meningitis
Microcephaly
Moebius syndrome (also known as Möbius syndrome)
Mohr-Tranebjerg (also known as Deafness-Dystomia-Optic Neuronopathy syndrome)
N
Neonatal Herpes Simplex (HSV)
NF1 – Neurofibromatosis (von Recklinghausen dis)
NF2 – Bilateral Acoustic Neurofibromatosis
No Determination of Etiology
Norrie disease
O
OTHER: Hereditary syndrome Disorders
OTHER: Post-Natal/ Non-Congenital
OTHER: Pre-Natal/ Congenital Complications
P
Peroxisomal disorders (including Refsum disease, Zellweger syndrome and Infantile Adrenoleukodystrophy)
Pfieffer syndrome (also Pfeiffer)
Pierre-Robin syndrome
Prader-Willi
Premature birth
R
Rieger syndrome
Rubella
Rubinstein-Taybi syndrome
S
Severe Head Injury
Smith-Lemli-Opitz (SLO) syndrome
Smith-Magenis syndrome (SMS)
Stickler syndrome
Stroke
Sturge-Weber syndrome
T
Treacher Collins syndrome
Trisomy 13 (Trisomy 13-15, Patau syndrome)
Trisomy 18 (Edwards syndrome)
Tumors
Turner syndrome
U
Usher syndrome
W
Waardenburg syndrome
Wildervanck syndrome
Wolf-Hirschhorn syndrome (Trisomy 4p)
Lähteitä
Muokattu 6.7.2018 lähteistä:
Orphanet. The portal for rare diseases and orphan drugs.