Rare Disease Library

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

Angora hair nevus

Schauder syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Multiple benign circumferential skin creases on limbs

CCSF · Congenital circumferential skin folds

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis 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

Rudiger syndrome

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

Semicircular canal dehiscence syndrome

SCD syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH