Rare Disease Library

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

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

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

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

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thrombocytopenia-absent radius syndrome

TAR 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

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome