Rare Disease Library

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Dentin dysplasia-sclerotic bones syndrome

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Dyssegmental dysplasia-glaucoma syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Genetic syndrome with limb reduction defects

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gómez-López-Hernández syndrome

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

Heart defects-limb shortening syndrome

Histidinuria-renal tubular defect syndrome

Joubert syndrome with renal defect

JS-R

Microgastria-limb reduction defect syndrome

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

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

Non-syndromic limb reduction defect

Non-syndromic limb hypoplasia

Non-syndromic longitudinal limb defect

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Radio-renal syndrome

Renal dysplasia

Kidney dysplasia

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Splenogonadal fusion-limb defects-micrognathia syndrome

SGFLD syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Syndrome with limb reduction defects

Terminal osseous dysplasia-pigmentary defects syndrome

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome