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Term:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (DOID:9001002)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Abruzzo-Erickson syndrome  
Acromegaloid Facial Appearance Syndrome 
Acromesomelic Dysplasia, Demirhan Type  
acromicric dysplasia +   
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alkuraya-Kucinskas syndrome  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arachnodactyly +   
Atelosteogenesis Type 3  
Attention Deficit and Disruptive Behavior Disorders +   
autosomal dominant mental retardation 49  
autosomal recessive Robinow syndrome  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bagatelle Cassidy syndrome 
BAKER-GORDON SYNDROME  
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly +   
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Brachytelephalangy Characteristic Facies Kallmann 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
C syndrome  
Calabro Syndrome 
Camptobrachydactyly 
cardiofaciocutaneous syndrome +   
Cartwright Nelson Fryns Syndrome 
CEBALID Syndrome  
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Child Behavior Disorders +   
CHILD syndrome  
Childhood Schizophrenia  
CHITAYAT SYNDROME  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cocoon syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
communication disorder +   
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniomicromelic Syndrome 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
Developmental Disabilities +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Dubowitz syndrome  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly-Polydactyly 
Ectromelia +   
Edinburgh Malformation Syndrome 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Fetal Akinesia Syndrome, X-Linked 
fibrochondrogenesis +   
Filippi Syndrome  
Freire-Maia Odontotrichomelic Syndrome 
Fryns Macrocephaly 
Fryns Syndrome 
GABRIELE-DE VRIES SYNDROME  
geleophysic dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hadziselimovic Syndrome 
Hand and Foot Deformity with Flat Facies 
Hanhart Syndrome 
Harel-Yoon Syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
hereditary spastic paraplegia 23  
Holoprosencephaly 10 
hypochondroplasia  
Hypoglossia-Hypodactylia 
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosis Tapered Fingers Midline Groove Up 
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
intellectual disability +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
JABERI-ELAHI SYNDROME  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Kaplan Plauchu Fitch Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuster Syndrome 
Larsen-Like Syndromes +   
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Le Marec Bracq Picaud Syndrome 
learning disability +   
Leri Pleonosteosis 
Lethal Faciocardiomelic Dysplasia 
Liang-Wang Syndrome  
Lichtenstein Syndrome 
Limb-Mammary Syndrome  
Lopes-Maciel-Rodan Syndrome  
Lower Extremity Deformities, Congenital +   
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lynch Lee Murday syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malformation of Arms 
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
McDonough Syndrome 
McPherson Clemens Syndrome 
Megalodactyly  
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelia-Synostoses Syndrome 
Metaphyseal Anadysplasia +   
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mowat-Wilson syndrome  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, X-Linked 
mutism  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
A global neurodevelopmental disorder with highly variable features. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet.
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
O'Donnell-Luria-Rodan Syndrome  
Oculoskeletodental Syndrome  
Okur-Chung Neurodevelopmental Syndrome  
Omodysplasia 2  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome, Recessive 
Otoonychoperoneal Syndrome 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Penttinen-Aula Syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pervasive Child Development Disorders +   
Peters plus syndrome  
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pilarowski-Bjornsson Syndrome  
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
polydactyly +   
Popov-Chang Syndrome 
postaxial acrofacial dysostosis  
Powell Chandra Saal Syndrome 
Progeroid Facial Appearance with Hand Anomalies 
Proteus syndrome +   
Radial Ray Deficiency, X-Linked 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reactive Attachment Disorder 
Reardon Hall Slaney syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
separation anxiety disorder  
Severe Growth Restriction with Distinctive Facies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
Skraban-Deardorff Syndrome  
Snijders Blok-Campeau Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spinocerebellar Ataxia with Dysmorphism 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
STANKIEWICZ-ISIDOR SYNDROME  
Steinfeld Syndrome 
stereotypic movement disorder +   
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
syndactyly +   
syndromic microphthalmia 6  
syndromic X-linked intellectual disability Turner type  
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
Thakker Donnai Syndrome 
thanatophoric dysplasia +   
Thomas Jewett Raines Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Thrombocytopenia Robin Sequence 
tic disorder +   
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
Ulnar Hypoplasia with Mental Retardation 
Upper Extremity Deformities, Congenital +   
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
VACTERL association +   
Ventriculomegaly  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Weill-Marchesani Syndrome 3  
Weyers acrofacial dysostosis  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Wright Dyck Syndrome 
Yunis-Varon syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: NEDDFSA
Alternate IDs: OMIM:618659
Definition Sources: OMIM:618659

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