Rare Disease Library

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Bartter syndrome type 1

Bartter syndrome type I

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Camptodactyly syndrome, Guadalajara type 1

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Ectrodactyly-polydactyly syndrome

Feingold syndrome type 1

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

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

FG syndrome type 1

Opitz-Kaveggia syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

Marfan syndrome type 1

MFS1

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

Non-syndromic complex polydactyly

Non-syndromic polydactyly

Non-syndromic postaxial polydactyly

Non-syndromic preaxial polydactyly

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

Polydactyly of a triphalangeal thumb

PPD2 · Preaxial polydactyly type 2

Polydactyly of an index finger

PPD3 · Preaxial polydactyly type 3

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

Postaxial polydactyly type A

Postaxial polydactyly type B

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Scalp defects-postaxial polydactyly syndrome

Short rib-polydactyly syndrome

Short rib-polydactyly syndrome type 5

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Stickler syndrome type 1

Syndactyly type 1

Syndactyly type 2

Synpolydactyly

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

Syndactyly type 4

Polysyndactyly, Haas type

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

Syndactyly type 6

Mitten hand · Syndactyly, mitten type

Syndactyly type 8

Fusion of metacarpals 4 and 5

Syndactyly-polydactyly-ear lobe syndrome