Rare Disease Library

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Brachydactyly-preaxial hallux varus syndrome

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Non-syndromic postaxial polydactyly

Non-syndromic preaxial polydactyly

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Postaxial polydactyly-dental and vertebral anomalies syndrome

Radial deficiency-tibial hypoplasia syndrome

Scalp defects-postaxial polydactyly syndrome

Temtamy preaxial brachydactyly syndrome

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2