Rare Disease Library

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth

Ectodermal dysplasia with natal teeth, Turnpenny type

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

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

Ectodermal dysplasia, trichoodontoonychial type

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

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

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Rapp-Hodgkin syndrome

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

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

Cerebellar ataxia-ectodermal dysplasia syndrome

Chondroectodermal dysplasia with night blindness

Cleft lip/palate-ectodermal dysplasia syndrome

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

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

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

Hidrotic ectodermal dysplasia

Clouston syndrome

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

Hidrotic ectodermal dysplasia, Halal type

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

Hypohidrotic ectodermal dysplasia

HED

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

Margarita island ectodermal dysplasia

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

Pure hair and nail ectodermal dysplasia

HNED · Hair-nail ectodermal dysplasia

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

Acropectororenal dysplasia

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull syndrome

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

CHIME syndrome

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

Dentin dysplasia

DD