Rare Disease Library

Harrod syndrome

Cranio-facio-digito-genital syndrome

3MC syndrome

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

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

Autosomal recessive faciodigitogenital syndrome

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

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Flat face-microstomia-ear anomaly syndrome

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

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

Juberg-Hayward syndrome

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

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