Rare Disease Library

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Rett syndrome

Reye syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

SCARF syndrome

Schaaf-Yang syndrome

SYS

Scheie syndrome

MPS1S · MPSIS

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Schinzel-Giedion syndrome

SGS

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Scott syndrome

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD 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

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Sotos syndrome

Cerebral gigantism

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Steel syndrome

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

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Sweet syndrome

Acute febrile neutrophilic dermatosis

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

TARP syndrome

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

Triple A syndrome

2A syndrome · 3A syndrome