Rare Disease Library

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PEHO-like syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Prader-Willi-like syndrome

PWS-like

Progressive supranuclear palsy

PSP syndrome

Proteus-like syndrome

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Reunion Island Larsen-like syndrome

Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism 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

Robinow-like syndrome

Saal-Greenstein syndrome

Rombo syndrome

Sagliker syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

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 stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

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

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Toxic epidermal necrolysis

Lyell syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots