Rare Disease Library

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive supranuclear palsy

PSP syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

PTEN hamartoma tumor syndrome

PHTS

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

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

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism 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

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Sotos syndrome

Cerebral gigantism

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

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

TARP syndrome

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

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tibial aplasia-ectrodactyly syndrome

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

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

Townes-Brocks syndrome

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

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS 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

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS