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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Absent Patella 
acromesomelic dysplasia, Grebe type  
Antecubital Pterygium 
arthrogryposis multiplex congenita +   
campomelic dysplasia +   
Cervical Rib Syndrome +  
CLOVES syndrome  
Cohen-Gibson Syndrome  
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Craniofacial Abnormalities +   
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Female Pseudohermaphroditism with Skeletal Anomalies 
Funnel Chest +   
gastroschisis +   
Hajdu-Cheney syndrome  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
laryngomalacia +   
Microcephaly, Short Stature, and Limb Abnormalities  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
Pectus Carinatum  
Pseudoarthrogryposis 
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Steel Syndrome  
Sternal Cleft 
synostosis +   
Tracheobronchomalacia +   
Widow's Peak Syndrome 
ZTTK Syndrome  
 22q11 Deletion Syndrome +   
 3MC syndrome +   
 Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
 Alazami Syndrome  
 Alazami-Yuan Syndrome  
 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
 AMME complex 
 Arthrogryposis Multiplex Congenita Whistling Face 
 Asymmetric Short Stature Syndrome 
 Au-Kline Syndrome  
 Axenfeld-Rieger syndrome type 1  
 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
 Baker Vinters Syndrome 
 Baraitser-Winter syndrome +   
 Birk-Barel 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 
 Calvarial Hyperostosis +   
 Camptodactyly Syndrome Guadalajara Type 2 
 Cardioacrofacial Dysplasia +   
 CEBALID Syndrome  
 Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
 cerebrooculofacioskeletal syndrome 2  
 cerebrooculofacioskeletal syndrome 4  
 Cerebrooculonasal Syndrome 
 CHITAYAT SYNDROME  
 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 Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
 cleidocranial dysplasia +   
 Cleidocranial Dysplasia 2  
 CODAS syndrome  
 combined oxidative phosphorylation deficiency 2  
 Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
 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  
 Costello syndrome  
 Cousin Syndrome  
 Cranioacrofacial Syndrome 
 craniodiaphyseal 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 
 Craniorhiny 
 craniosynostosis +   
 Curly Hair-Acral Keratoderma-Caries Syndrome 
 DeSanto-Shinawi syndrome  
 Desbuquois dysplasia +   
 Diaphanospondylodysostosis  
 distal arthrogryposis type 6 
 DNA ligase IV deficiency  
 Donohue syndrome  
 DOORS syndrome  
 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
 Erosive Arthropathy 
 EVEN-PLUS SYNDROME  
 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  
 FG Syndrome 5 
 Floating-Harbor syndrome  
 Forebrain Defects  
 Fountain Syndrome 
 Fraser-Like Syndrome 
 Fronto-Facio-Nasal Dysplasia 
 frontonasal dysplasia +   
 Frontoocular Syndrome 
 Frontootopalatodigital Osteodysplasia 
 Game Friedman Paradice Syndrome 
 geleophysic dysplasia +   
 Genitopatellar Syndrome  
 Goldberg-Shprintzen syndrome  
 Gomez Lopez Hernandez Syndrome 
 Gorlin Chaudhry Moss Syndrome 
 Gracile Bone Dysplasia  
 Grant Syndrome 
 Hall Riggs Mental Retardation Syndrome 
 Hanhart Syndrome 
 Harrod Doman Keele Syndrome 
 Haspeslagh Fryns Muelenaere Syndrome 
 Hecht Scott Syndrome 
 HENGEL-MAROOFIAN-SCHOLS SYNDROME  
 Hennekam syndrome +   
 holoprosencephaly +   
 Humeroradial Synostosis with Craniofacial Anomalies 
 Hypertelorism +   
 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 
 Jones Hersh Yusk Syndrome 
 Juberg Hayward Syndrome  
 Kapur Toriello Syndrome 
 Keppen-Lubinsky Syndrome  
 Kleefstra syndrome +   
 Klippel-Feil syndrome 4  
 Kosztolanyi Syndrome 
 Larsen-like syndrome B3GAT3 type  
 Leichtman Wood Rohn Syndrome 
 linear skin defects with multiple congenital anomalies 2  
 Loeys-Dietz syndrome +   
 Loucks-Innes Syndrome  
 Macrocephaly +   
 Mandibuloacral Dysplasia Progeroid Syndrome  
 mandibuloacral dysplasia type B lipodystrophy  
 Mandibulofacial Dysostosis Syndrome, Bauru Type 
 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
 Marshall syndrome +   
 Marshall-Smith syndrome  
 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 +   
 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 
 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 
 Noonan syndrome +   
 Noonan syndrome with multiple lentigines +   
 Oculoauriculofrontonasal Syndrome 
 Oculocerebral Hypopigmentation Syndrome Type Preus 
 oculodentodigital dysplasia +   
 Oculootofacial Dysplasia +   
 Orbital Margin, Hypoplasia of 
 orofaciodigital syndrome +   
 Otofacioosseous-Gonadal Syndrome 
 otopalatodigital syndrome spectrum disorder +   
 Pallister W Syndrome 
 Pashayan Syndrome 
 Plagiocephaly +   
 Platybasia +  
 Pointer Syndrome 
 Posterior Exchondrosis of Pinna 
 Potato Nose 
 Preauricular Fistulae, Congenital 
 Prieto syndrome 
 Pseudoaminopterin Syndrome 
 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
 Reardon Hall Slaney syndrome 
 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
 Riddle syndrome  
 Ritscher-Schinzel syndrome +   
 Roberts syndrome  
 Robinow syndrome +   
 Rommen Mueller Sybert Syndrome 
 Rozin Hertz Goodman Syndrome 
 Rubinstein-Taybi syndrome +   
 Say Meyer Syndrome  
 SCARF Syndrome 
 Schaaf-Yang syndrome  
 Schaefer Stein Oshman Syndrome 
 Schilbach-Rott Syndrome 
 Schinzel-Giedion Syndrome  
 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
 Seaver Cassidy Syndrome 
 Seckel Like Syndrome Type Buebel 
 Sener Syndrome 
 Short Stature and Facioauriculothoracic Malformations 
 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
 Short Stature-Obesity Syndrome 
 Silver-Russell syndrome +   
 Simosa Cranio Facial Syndrome 
 Smith-Kingsmore Syndrome  
 Sonoda Syndrome 
 Splenogonadal Fusion with Limb Defects and Micrognathia 
 Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
 Spondyloocular Syndrome, Autosomal Recessive  
 Sweeney-Cox syndrome  
 syndromic X-linked intellectual disability Abidi type 
 syndromic X-linked intellectual disorder Lujan-Fryns-type  
 Teebi hypertelorism syndrome +   
 Teebi Shaltout Syndrome 
 Telecanthus +   
 Temtamy syndrome  
 Tessadori-van Haaften Neurodevelopmental Syndrome 2  
 Tetrasomy X 
 Tollner Horst Manzke Syndrome 
 trichodontoosseous syndrome  
 Urioste Martinez-Frias Syndrome 
 Van Bogaert-Hozay Syndrome 
 Van Maldergem syndrome +   
 Verheij Syndrome  
 Vertebral Body Fusion Overgrowth 
 Viljoen Kallis Voges Syndrome 
 Weaver syndrome  
 WEISS-KRUSZKA SYNDROME  
 White-Sutton syndrome  
 Wiedemann Grosse Dibbern Syndrome 
 Winter Shortland Temple Syndrome  
 Worth syndrome  
 Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Craniofacial Abnormality
Primary IDs: MESH:D019465 ;   RDO:0000261
Definition Sources: MESH:D019465

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