Rare Disease Library

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Nelson syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

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

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Partington-Anderson syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked sideroblastic anemia and spinocerebellar ataxia

Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia