Rare Disease Library

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Emery-Nelson syndrome

Hand and foot deformity-flat facies syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nelson syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

Zollinger-Ellison syndrome

Gastrinoma