Rare Disease Library

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Suarez-Stickler syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive Stickler syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Chandler syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

H syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hurler syndrome

Hurler disease · MPS1H

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

KID syndrome

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

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stickler syndrome type 1

Stickler syndrome type 2

Stiff skin syndrome

Stimmler syndrome

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

SUNCT syndrome

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing

Susac syndrome

Retinocochleocerebral vasculopathy

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome