Rare Disease Library

Melhem-Fahl syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees 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

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

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

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

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

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome