| Parent Terms |
Term With Siblings |
Child Terms |
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22q11 Deletion Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alves Castelo dos Santos Syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
cartilage-hair hypoplasia
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
cranioectodermal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
Diaphanospondylodysostosis
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES This disease is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies.
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
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
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis-Van Creveld syndrome +
Euhidrotic Ectodermal Dysplasia
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
fetal encasement syndrome
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hay Wells Syndrome Recessive Type
Hengel-Maroofian-Schols syndrome
Hernandez Fragoso Syndrome
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Humeroradial Synostosis with Craniofacial Anomalies
hypohidrotic ectodermal dysplasia +
hypopigmentation of eyelid
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer Syndrome
Larsen-like syndrome B3GAT3 type
Leichtman Wood Rohn Syndrome
linear skin defects with multiple congenital anomalies 2
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maxillofacial Abnormalities +
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
nonsyndromic aplasia cutis congenita
Noonan syndrome with multiple lentigines +
Obesity and Hypopigmentation
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Periventricular Laminar Heterotopia
periventricular nodular heterotopia +
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pure hair and nail ectodermal dysplasia +
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Raindrop Hypopigmentation
Reardon Hall Slaney syndrome
Ritscher-Schinzel syndrome +
Robinson Miller Bensimon Syndrome
Rommen Mueller Sybert Syndrome
Rosselli-Gulienetti Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
scalp-ear-nipple syndrome
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Seres-Santamaria Arimany Muniz Syndrome
Short Stature and Facioauriculothoracic Malformations
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Taurodontia, Absent Teeth, Sparse Hair
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zimmerman Laband Syndrome +
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| Synonyms |
| Exact Synonyms: |
EDFAOB
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Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
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| Primary IDs: |
OMIM:618727
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| Definition Sources: |
OMIM:618727 |
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