Rare Disease Library

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Adrenal Cushing syndrome

Adrenal CS

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Cerebellar ataxia-ectodermal dysplasia syndrome

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Cleft lip/palate-ectodermal dysplasia syndrome

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

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

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

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gómez-López-Hernández syndrome

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

Hidrotic ectodermal dysplasia

Clouston syndrome

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypohidrotic ectodermal dysplasia

HED

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Margarita island ectodermal 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: Cleft lip/palate-ectodermal dysplasia syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome · OBSOLETE: Alves-dos Santos-Castelo syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Pure hair and nail ectodermal dysplasia

HNED · Hair-nail ectodermal dysplasia

Rapp-Hodgkin syndrome

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

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Trichodysplasia-xeroderma syndrome