Rare Disease Library

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

Pai syndrome

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

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive supranuclear palsy

PSP syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS 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

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

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

Subaortic stenosis-short stature syndrome

Onat syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Van der Woude syndrome

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

VEXAS syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability, Cabezas type

Cabezas syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome