Rare Disease Library

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Burn-McKeown syndrome

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Crane-Heise syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Craniofrontonasal dysplasia

CFND · CFNS

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Dysmorphism-conductive hearing loss-heart defect syndrome

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome