Rare Disease Library

Painful legs and moving toes syndrome

PLMT syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Progressive supranuclear palsy

PSP syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Recombinant 8 syndrome

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

Rett 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

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism 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

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

Sheehan 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

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Sotos syndrome

Cerebral gigantism

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

Summitt syndrome

SUNCT syndrome

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

Susac syndrome

Retinocochleocerebral vasculopathy

Sweet syndrome

Acute febrile neutrophilic dermatosis

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Thymoma-hypogammaglobulinemia syndrome

Good 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

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome