Rare Disease Library

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Acro-renal-ocular syndrome

Acrorenal syndrome

Aplasia cutis-myopia syndrome

Gershoni-Baruch-Leibo syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Cerebellar ataxia-ectodermal dysplasia syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Dentin dysplasia-sclerotic bones syndrome

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Dyssegmental dysplasia-glaucoma syndrome

Dystonia-aphonia syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Fibromuscular dysplasia of the renal arteries

Renal artery fibromuscular dysplasia · Renal FMD

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Saito-Kuba-Tsuruta syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: X-linked retinal dysplasia

Odonto-onycho dysplasia-alopecia syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Radio-renal syndrome

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Renal dysplasia

Kidney dysplasia

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

Renal dysplasia, unilateral

Kidney dysplasia, unilateral

Rett syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Saldino-Mainzer syndrome

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

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Sternal malformation-vascular dysplasia syndrome