Rare Disease Library

Osteopathia striata-cranial sclerosis syndrome

Hyperostosis generalisata with striations · Robinow-Unger syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autosomal dominant Robinow syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Eisenmenger syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

H syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Jung syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Rett syndrome

Reye syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Robinow-Sorauf syndrome