Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

15 matching diseasesClear search ×

Ectrodactyly with and without other manifestations

ORPHA:498477

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Ectrodactyly-spina bifida-cardiopathy syndrome

Kasznica-Carlson-Coppedge syndrome

ORPHA:1894

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1896

EEC syndrome and related disorders

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

ORPHA:98609

Fibular aplasia-ectrodactyly syndrome

ORPHA:1118

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

ORPHA:1891

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

ORPHA:1258

OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

ORPHA:2878

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Triphalangeal thumbs-brachyectrodactyly syndrome

Carnevale-Hernández-del Castillo-Torres syndrome

ORPHA:2947

OBSOLETE: Split hand

OBSOLETE: Ectrodactyly of hand

ORPHA:294992