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Primary Identified Etiology - Deafblind

Links about Syndromes and Rare Diseases

Hereditary/Chromosomal Syndromes and Disorders

101 Aicardi syndrome

102 Alport syndrome

103 Alstrom syndrome

104 Apert syndrome (Acrocephalosyndactyly, Type 1)

105 Bardet-Biedl syndrome (Laurence Moon-Biedl)

106 Batten disease

107 CHARGE association

108 Chromosome 18, Ring 18

109 Cockayne syndrome

110 Cogan Syndrome

111 Cornelia de Lange

112 Cri du chat syndrome (Chromosome 5p- syndrome)

113 Crigler-Najjar syndrome

114 Crouzon syndrome (Craniofacial Dysotosis)

115 Dandy Walker syndrome

116 Down syndrome (Trisomy 21 syndrome)

117 Goldenhar syndrome

118 Hand-Schuller-Christian (Histiocytosis X)

119 Hallgren syndrome

120 Herpes-Zoster (or Hunt)

121 Hunter Syndrome (MPS II)

122 Hurler syndrome (MPS I-H)

123 Kearns-Sayre syndrome

124 Klippel-Feil sequence

125 Klippel-Trenaunay-Weber syndrome

126 Kniest Dysplasia

127 Leber congenital amaurosis

128 Leigh Disease

129 Marfan syndrome

130 Marshall syndrome

131 Maroteaux-Lamy syndrome (MPS VI)

132 Moebius syndrome

133 Monosomy 10p

134 Morquio syndrome (MPS IV-B)

135 NF1 - Neurofibromatosis (von Recklinghausen disease)

136 NF2 - Bilateral Acoustic Neurofibromatosis

137 Norrie disease

138 Optico-Cochleo-Dentate Degeneration

139 Pfieffer syndrome

140 Prader-Willi

141 Pierre-Robin syndrome

142 Refsum syndrome

143 Scheie syndrome (MPS I-S)

144 Smith-Lemli-Opitz (SLO) syndrome

145 Stickler syndrome

146 Sturge-Weber syndrome

147 Treacher Collins syndrome

148 Trisomy 13 (Trisomy 13-15, Patau syndrome)

149 Trisomy 18 (Edwards syndrome)

150 Turner syndrome

151 Usher I syndrome

152 Usher II syndrome

153 Usher III syndrome

154 Vogt-Koyanagi-Harada syndrome

155 Waardenburg syndrome

156 Wildervanck syndrome

157 Wolf-Hirschhorn syndrome (Trisomy 4p)

199 Other __________________________

Pre-Natal/Congenital Complications

201 Congenital Rubella

202 Congenital Syphilis

203 Congenital Toxoplasmosis

204 Cytomegalovirus (CMV)

205 Fetal Alcohol syndrome

206 Hydrocephaly

207 Maternal Drug Use

208 Microcephaly

209 Neonatal Herpes Simplex (HSV)

299 Other_______________________

301 Asphyxia

302 Direct Trauma to the eye and/or ear

303 Encephalitis

304 Infections

305 Meningitis

306 Severe Head Injury

307 Stroke

308 Tumors

309 Chemically Induced

399 Other _______________________

Related to Prematurity

401 Complications of Prematurity

Undiagnosed

501 No Determination of Etiology

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Last revision: July 30, 2002