Rare Disease Library

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Adrenogenital syndrome

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short QT syndrome

Congenital SQTS

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Femoral-facial syndrome

FFS · FHUFS

Fetal iodine syndrome

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Juberg-Hayward syndrome

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

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

OBSOLETE: DDX59-related orofaciodigital syndrome

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Orofaciodigital syndrome type 18

OFD18 · Oral-facial-digital syndrome type 18

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Orofaciodigital syndrome type 8

OFD8 · Oral-facial-digital syndrome type 8

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Velo-facial-skeletal syndrome