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Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
achondrogenesis type IA  
Acro-Osteolysis +   
acromesomelic dysplasia, Maroteaux type  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMME complex 
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
Arthrogryposis Multiplex Congenita Whistling Face 
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
autosomal dominant osteopetrosis 2  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Baby Rattle Pelvis Dysplasia 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blount's disease 
BOUDIN-MORTIER SYNDROME  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brittle Bone Disorder 
Calvarial Hyperostosis +   
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cardioacrofacial Dysplasia +   
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Vertebral Dysplasia 
CHITAYAT SYNDROME  
CHOPS 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  
chronic recurrent multifocal osteomyelitis +   
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
clubfoot +   
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
Conductive Deafness with Ptosis and Skeletal Anomalies 
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  
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
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 +   
developmental dysplasia of the hip +   
Diaphanospondylodysostosis  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
diphthamide deficiency syndrome 1  
Disproportionate Tall Stature  
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
dropped head syndrome 
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Elsahy-Waters syndrome  
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 
Fuhrmann syndrome  
Funnel Chest +   
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
Gigantism +   
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorham's disease +   
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Gurrieri Sammito Bellussi 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 +   
high grade glioma +   
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
HYPOPLASTIC FEMURS AND PELVIS  
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  
Intervertebral Disc Displacement +   
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
Laplane Fontaine Lagardere Syndrome 
Larsen-like syndrome B3GAT3 type  
Leg Length Inequality 
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
lethal congenital contracture syndrome +   
linear skin defects with multiple congenital anomalies 2  
Lissencephaly Type III and Bone Dysplasia 
Loeys-Dietz syndrome +   
Macrocephaly +   
Macroepiphyseal Dysplasia, McAlister Coe Type 
mandibuloacral dysplasia +   
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marfan syndrome +   
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Membranous Cranial Ossification, Delayed 
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 
Mesomelic Limb Shortening and Bowing 
microcephaly +   
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
MICROMELIA  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miura type epiphyseal chondrodysplasia  
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 DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma 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 +   
Ossification of Posterior Longitudinal Ligament +   
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
Pashayan Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES  
Plagiocephaly +   
Platybasia +  
A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prenatal Bowing 
Prieto syndrome  
Proteus syndrome +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radius Absent Anogenital Anomalies 
Reardon Hall Slaney syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman-Chitayat Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Santos 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, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
SHOX-related short stature  
Shwachman-Diamond Syndrome 2  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
spinal chordoma +   
Spinal Curvatures +   
Spinal Neoplasms 
Spinal Osteochondrosis +   
Spinal Osteophytosis +   
Splenogonadal Fusion with Limb Defects and Micrognathia 
split hand-foot malformation +   
spondylitis +   
Spondylocamptodactyly 
spondylocostal dysostosis +   
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
spondylosis +   
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
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  
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vertebral hypersegmentation and orofacial anomalies  
Viljoen Kallis Voges Syndrome 
vitamin D-dependent rickets +   
Weaver syndrome  
Weismann Netter Syndrome 
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
X-linked spondyloepiphyseal dysplasia tarda  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Basilar Impression ;   Basilar Impressions ;   Platybasias
Primary IDs: MESH:D010985
Definition Sources: MESH:D010985

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