Rare Disease Library

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

PHAVER syndrome

Powell-Chandra-Saal syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Primary ciliary dyskinesia, Kartagener type

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

Progressive supranuclear palsy

PSP syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Rudiger syndrome

Sagliker syndrome

Sandifer syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

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

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

SHORT syndrome

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

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Sweet syndrome

Acute febrile neutrophilic dermatosis

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Tarsal kink syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Tricho-retino-dento-digital syndrome

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

Trichodental syndrome

Kersey syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH