Ontology Browser

Term:
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (DOID:0060783)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
cleft lip +     
cleft palate +     
EEC syndrome +     
Aarskog syndrome +   
Aase Smith Syndrome 
acheiropody  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acrootoocular Syndrome 
acrorenal syndrome +  
Adams-Oliver syndrome +   
ADULT syndrome  
Alves Castelo dos Santos Syndrome 
Anal Sphincter Dysplasia 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aplasia Cutis Congenita Intestinal Lymphangiectasia 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
Aughton Syndrome 
Ausems Wittebol-Post Hennekam Syndrome 
Baetz-Greenwalt syndrome 
Bamforth-Lazarus syndrome  
Banki Syndrome 
Baraitser Rodeck Garner syndrome 
Basan Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
blepharocheilodontic syndrome +   
brachydactyly type E1  
brachydactyly type E2  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
cardiofaciocutaneous syndrome +   
Carnevale Hernandez Castillo Syndrome 
Catel Manzke Syndrome  
Cerebellar Ataxia Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Charcot-Marie-Tooth Disease, Foot Deformity of 
Chitayat Meunier Hodgkinson Syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
Cleft Lip, Congenital Healed 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
Clouston syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Coloboma of Macula and Skeletal Anomalies 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Symmetric Circumferential Skin Creases +   
Cranioacrofacial Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis, Adelaide Type 
Crumpled Helices and Small Mouth 
Daneman Davy Mancer Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Congenital Onychodystrophy, Recessive Form 
Dermatoosteolysis Kirghizian Type 
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
Dystelephalangy 
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
Euhidrotic Ectodermal Dysplasia 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiorenal Syndrome 
Fairbank Disease 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
focal dermal hypoplasia +   
Freire-Maia Odontotrichomelic Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontonasal Dysplasia 3  
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Genito Palato Cardiac Syndrome 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goodman Camptodactyly 
Gordon Syndrome  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
Halal Setton Wang Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holzgreve-Wagner-Rehder syndrome 
hydrolethalus syndrome +   
hypertelorism, microtia, facial clefting syndrome 
Hypodontia Oligodontia with Orofacial Cleft 
hypohidrotic ectodermal dysplasia +   
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Iida Kannari Syndrome 
isolated cleft palate  
Jackson-Weiss Syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kniest dysplasia  
Kuster Syndrome 
Ladda Zonana Ramer syndrome 
Larsen syndrome  
Laurin-Sandrow Syndrome  
Lelis Syndrome 
Leri Pleonosteosis 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lowry Maclean syndrome 
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Macrosomia with Lethal Microphthalmia 
Mammary-Digital-Nail Syndrome 
Martinez Monasterio Pinheiro Syndrome 
McPherson Clemens Syndrome 
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microtia, Hearing Impairment, and Cleft Palate  
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Naegeli Syndrome  
Native American myopathy  
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
oculodentodigital dysplasia +   
Oculomaxillofacial Dysostosis  
Oculootoradial Syndrome  
Oculopalatocerebral Syndrome 
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
Oslam syndrome 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
PARC Syndrome 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Peters plus syndrome  
Pfeiffer Tietze Welte Syndrome 
Photosensitive Trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
popliteal pterygium syndrome +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
Pseudotrisomy 13 Syndrome 
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Rapp-Hodgkin syndrome  
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sakoda Complex 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
Say Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Second Metatarsal-Metacarpal Syndrome 
Selective Tooth Agenesis with Orofacial Cleft 
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies  
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Taurodontia Absent Teeth Sparse Hair 
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thomas Syndrome 
Tollner Horst Manzke Syndrome 
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Trueb Burg Bottani Syndrome 
Tukel Syndrome 
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vertical Talus, Congenital  
Vohwinkel Syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: EEC Syndrome 3 ;   EEC3
Primary IDs: MESH:C565799 ;   RDO:0014343
Alternate IDs: OMIM:604292
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10535733, https://www.ncbi.nlm.nih.gov/pubmed/8737655

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.