Rare Disease Library

Eiken syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

H syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hurler syndrome

Hurler disease · MPS1H

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Kenny-Caffey syndrome

Kenny syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Locked-in syndrome

Pseudocoma · LIS

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

May-Thurner syndrome

MTS · Cockett syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Franek-Bocker-Kahlen syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

Pyknoachondrogenesis

Camera syndrome

Scheie syndrome

MPS1S · MPSIS

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome