Rare Disease Library

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

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

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Progressive supranuclear palsy

PSP syndrome

Pyknoachondrogenesis

Camera syndrome

RIDDLE syndrome

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

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein 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-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Summitt syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Temple syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked intellectual disability, Cabezas type

Cabezas syndrome