Rare Disease Library

Cleft lip/palate-deafness-sacral lipoma syndrome

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

Abruzzo-Erickson syndrome

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

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Caudal appendage-deafness syndrome

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

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

Alveolar cleft lip and palate · Cleft lip and palate

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial 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

Dysmorphism-cleft palate-loose skin syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

Fountain syndrome

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

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Hypopituitarism-micropenis-cleft lip/palate syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

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

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

OBSOLETE: Lymphedema-cleft palate syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Syngnathia-cleft palate syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome