Diagnooseista

 

Diagnooseja, jotka aiheuttavat tai joihin saattaa liittyä kuulonäkövamma

A

Age related deafblindness
Aicardi syndrome
Alport syndrome
Alström syndrome
Apert syndrome/Acrocephalosyndactyly, Type 1
Asphyxia

B

Bardet-Biedl syndrome (Laurence Moon-Biedl)
Batten disease

C

Cerebral palsy (CP)
CHARGE syndrome
Chemically Induced
Chromosome 18, Ring 18
Cockayne syndrome
Complication of Prematurity
Congenital Rubella syndrome (CRS)
Congenital Toxoplasmosis
Cornelia de Lange syndrome (CdLS)
Cri du chat syndrome
Crouzon syndrome (Craniofacial Dysotosis)
Cytomegalovirus (CMV)

D

Dandy Walker syndrome
DIDMOAD (Wolfram syndrome)
Direct Trauma to the eye and/or ear
Down syndrome (Trisomy 21 syndrome)

E

Encephalitis

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)

 

Muokattu 6.7.2018 lähteistä:

Orphanet. The portal for rare diseases and orphan drugs.

Primary Etiologies of Deaf-Blindness – Alphabetically

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