Rare Disease Library

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Autosomal recessive faciodigitogenital syndrome

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

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Branchio-oculo-facial syndrome

BOFS

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cockayne syndrome type 2

Cockayne syndrome type II

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Femoral-facial syndrome

FFS · FHUFS

FG syndrome type 1

Opitz-Kaveggia syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

Juberg-Hayward syndrome

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

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

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

Oculocerebrofacial syndrome, Kaufman type

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 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

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 2

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Stickler syndrome type 2