Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Agyria, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Pachygy... |
OMIM:615411 |
Microlissencephaly |
|
Lissencephaly, Cerebral cortical atrophy, Pneumonia, Subcortical heterotopia, Polymicrogyria, Per... |
ORPHA:1083 |
Lissencephaly 1 |
|
Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abnormal cerebral whi... |
OMIM:607432 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... |
OMIM:600561 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callos... |
OMIM:608097 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Periventricular lamina... |
OMIM:611603 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Respiratory ins... |
OMIM:616081 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... |
ORPHA:101029 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... |
OMIM:611369 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol... |
OMIM:300717 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... |
OMIM:300067 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Cerebellar hypoplasia, Optic atrophy, Microcephaly, Periventricular nodular heterotopia |
OMIM:618572 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Respiratory insufficiency, Sclerosis of skull base, Hip contracture, Knee flexion ... |
OMIM:313420 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respir... |
ORPHA:370968 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Simplified gyral pattern |
OMIM:618328 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo... |
OMIM:604213 |
Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Abnormality of neuronal migration, Microcephaly, Macrocephal... |
OMIM:618709 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... |
OMIM:611890 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Intrauterine growth reta... |
ORPHA:1980 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... |
OMIM:619466 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Global brain atrophy, Respiratory insufficiency, Death in infancy, Hyperintensity of cerebral whi... |
OMIM:611722 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... |
OMIM:615348 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation |
ORPHA:2216 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Abnormal cortical ... |
OMIM:616867 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebella... |
OMIM:618677 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Respiratory insufficiency |
ORPHA:1314 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Ce... |
OMIM:225753 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Neonatal respiratory distress, Cerebral atrophy, Aspiration pneumonia, Intrauterin... |
OMIM:619057 |
Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Intrauterine growth retardation, Large fontanelles, Short neck, R... |
ORPHA:1832 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Pulmonary sequestration, Lateral ventricle dilatation, Frontal bossing |
OMIM:618330 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol... |
ORPHA:300573 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
Lissencephaly 5 |
|
Leukoencephalopathy, Optic atrophy, Cerebellar vermis hypoplasia, Occipital encephalocele, Hypopl... |
OMIM:615191 |
Muscular Dystrophy, Congenital, 1B |
|
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... |
OMIM:604801 |
Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench... |
OMIM:156530 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephal... |
OMIM:604317 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Hypoplasia of the brainstem, Elbow flexion con... |
OMIM:608840 |
Craniosynostosis 6 |
|
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Lateral ventricle dilatation, Bic... |
OMIM:616602 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgy... |
ORPHA:352682 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Abnormal peripheral... |
ORPHA:90117 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Cerebral atrophy, Polymicrogyria, Respiratory insufficiency, Intrauterine growth r... |
OMIM:615330 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Respiratory insufficiency, Camptodactyly of finge... |
OMIM:614399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:613954 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Microcephaly, Proxi... |
ORPHA:370980 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Reduced cerebral white matter volume |
OMIM:618185 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Periven... |
OMIM:616171 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Neonatal respiratory distress, Neuronal loss in the cerebral cortex, Agenesi... |
ORPHA:168486 |
Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... |
OMIM:619773 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Lateral ventric... |
OMIM:618291 |
Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Progre... |
ORPHA:2254 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Ullrich Congenital Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee flexi... |
ORPHA:75840 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Recurrent respiratory infections, Plagiocephaly, Agenesis of corpus callosum |
OMIM:618603 |
Band Heterotopia |
|
Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
Hyperekplexia 4 |
|
Umbilical hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Resp... |
OMIM:618011 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d... |
OMIM:619602 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Polymicrogyria, Intrauterine growth retardation, Death in infancy, Microcephaly, Respiratory failure |
OMIM:610678 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
Bruck Syndrome |
|
Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Pterygium, Joint st... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr... |
OMIM:610967 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... |
ORPHA:2590 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Plagiocephaly, Hypoplasia of the pons |
OMIM:607313 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficien... |
OMIM:245400 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Recurrent respiratory infections, Posterior plagiocephaly |
OMIM:619927 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... |
OMIM:619334 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:... |
ORPHA:171433 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Spinal muscula... |
ORPHA:254875 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Cerebral atrophy, Weakness of facial musculature |
OMIM:618637 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly |
OMIM:236795 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Unilambdoid synostosis, Agenesis of corpus callosum |
OMIM:618577 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum |
OMIM:615433 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S... |
ORPHA:98905 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss... |
OMIM:135100 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure, Thin corpus callosum, EMG... |
OMIM:620326 |
Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... |
OMIM:259440 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ... |
ORPHA:970 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Plagiocephaly, Hypoplasia of the brainstem |
OMIM:614563 |
Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebral atrophy, Respiratory insufficiency, Neonatal death, Microcephaly, Respiratory failure |
OMIM:610127 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, De... |
ORPHA:254361 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... |
OMIM:604320 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Mic... |
OMIM:616212 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt... |
ORPHA:2512 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Cebalid Syndrome |
|
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly |
OMIM:618774 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ra... |
OMIM:276950 |
Hemimegalencephaly |
|
Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heteroto... |
ORPHA:99802 |
Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne... |
OMIM:620249 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent... |
OMIM:608647 |
Acalvaria |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Abnormal l... |
ORPHA:945 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Intrauterine growth retardation, Microcephaly, Recurrent respiratory i... |
OMIM:609981 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Microcephaly, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem |
OMIM:617751 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Hypoplasia... |
OMIM:618186 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput |
OMIM:618672 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal deat... |
OMIM:616342 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Scaphocephaly, Frontal ... |
ORPHA:420179 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Agene... |
ORPHA:89844 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... |
ORPHA:2759 |
Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dolichocephaly, Brachycephaly, Plagiocephaly |
ORPHA:272 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Bronchiectasis, Recurrent pneumonia, Atelectasis |
OMIM:615294 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Joint hypermobility |
ORPHA:2787 |
Hypophosphatasia |
|
Respiratory insufficiency, Emphysema, Large fontanelles, Abnormal rib morphology, Craniosynostosi... |
ORPHA:436 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Microcephaly, Respiratory ins... |
ORPHA:352447 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cerebral cortical atrophy, Death in childhood, Myopathy, Hypoplasia of the corpus callosum, Neona... |
OMIM:614922 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure, Death in infancy, Macrocephaly |
OMIM:618240 |
Kleefstra Syndrome 2 |
|
Plagiocephaly |
OMIM:617768 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Plagiocephaly |
OMIM:618731 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Diffuse white matter abnormalities, Calf muscle pseudohypertrophy, Occipital encep... |
ORPHA:370959 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, In... |
ORPHA:1194 |
Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:3210 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum |
ORPHA:251056 |
Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality ... |
ORPHA:101030 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Increased variability in muscle fiber diameter, Muscular dystrophy,... |
OMIM:616538 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Atrophy/Degeneration affecting the brainstem, Agenesis of corpus callosum |
OMIM:620200 |
Muenke Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull |
OMIM:602849 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Intrauterine growth retardation, Wormian bones, Thin bony cor... |
OMIM:619795 |
Craniofrontonasal Dysplasia |
|
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing |
ORPHA:1520 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly |
ORPHA:94066 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:614643 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Amyotrophic lateral sclerosis |
OMIM:613435 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Plagiocephaly |
ORPHA:1143 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Thin corpus callosum, Respiratory failure, Death in infancy |
OMIM:616277 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Plagiocephaly, Hypoplasia of the brainstem |
ORPHA:500159 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Large fontanelles, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mu... |
ORPHA:171430 |
Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata... |
OMIM:245650 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly, Respiratory fai... |
OMIM:312170 |
Pentasomy X |
|
Plagiocephaly |
ORPHA:11 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent pneumonia, Plagiocephaly, Hypoplasia of the pons, Recurrent bronchitis, Frontal bossing |
OMIM:619293 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... |
OMIM:606071 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:616801 |
Lessel-Kreienkamp Syndrome |
|
Scaphocephaly, Plagiocephaly, Frontal bossing |
OMIM:619149 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Intrauterine growth retardation... |
OMIM:620327 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... |
OMIM:263000 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Intrauterine growth retard... |
ORPHA:86822 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... |
ORPHA:70589 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... |
OMIM:610968 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Elbow flexion contracture, Flexion contracture, Multiple joint con... |
ORPHA:70 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly |
ORPHA:77300 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly |
OMIM:618008 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosis,... |
ORPHA:449280 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly |
OMIM:615516 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Multi... |
OMIM:259410 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly |
OMIM:617481 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Anisospondyly, Delayed patellar ossification, Short neck, Abnormality of cranial s... |
ORPHA:163649 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Intrauterine ... |
ORPHA:255138 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Wide anterior fontanel, Recurrent fractures, Bowing of limbs due to multiple fractures... |
OMIM:259420 |
Alg1-Cdg |
|
Limitation of joint mobility, Respiratory failure, Scoliosis, Kyphosis |
ORPHA:79327 |
Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:619721 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Muscular dystrophy, Atelectasis, Respiratory insufficiency, Absent muscle fiber mer... |
ORPHA:258 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification |
OMIM:618265 |
Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Frontal bossing |
OMIM:617808 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Polymicrogyria, Respiratory insufficiency, Cerebral calcification, ... |
OMIM:617397 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly |
OMIM:308350 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:616789 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of neurona... |
ORPHA:2518 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Abnormal optic disc morphology, Aplasia/Hypoplasia of the cere... |
ORPHA:65 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly |
OMIM:618821 |
Prune1-Related Neurological Syndrome |
|
Plagiocephaly |
ORPHA:544469 |
Houge-Janssens Syndrome 3 |
|
Plagiocephaly, Frontal bossing, Hypoplasia of the brainstem |
OMIM:618354 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Fle... |
OMIM:310200 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Brachycephaly, Turricephaly |
ORPHA:1532 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Brachycephaly, Plagiocephaly |
OMIM:618862 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation, Aplasia/Hypopla... |
ORPHA:2772 |
Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac... |
OMIM:609220 |
Walker-Warburg Syndrome |
|
Optic atrophy, Abnormal cortical gyration, Aplasia/Hypoplasia involving the skeletal musculature,... |
ORPHA:899 |
Bresek Syndrome |
|
Plagiocephaly, Neonatal death |
ORPHA:85284 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Short neck, Camptodactyly, Respiratory failure, Prominent metopi... |
OMIM:618804 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Lateral ventricle dilatation, Brachycephaly, Partial agenesis of the corpus callos... |
OMIM:617296 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Respiratory insufficiency, Large fontanelles, Multiple rib fractures, W... |
OMIM:166210 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure |
ORPHA:70587 |
Grant Syndrome |
|
Joint dislocation, Large fontanelles, Abnormal cortical bone morphology, Decreased skull ossifica... |
ORPHA:2097 |
Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Respiratory failure |
ORPHA:71211 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal morphology of musculature of pharynx, Cerebellar hypoplasia, Lower limb amyotrophy, Conf... |
ORPHA:280210 |
Houge-Janssens Syndrome 2 |
|
Plagiocephaly, Agenesis of corpus callosum |
OMIM:616362 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:618430 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Thin... |
OMIM:617952 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly |
OMIM:618089 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Pneumocystosis |
|
Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ... |
ORPHA:723 |
Melnick-Needles Syndrome |
|
Anisospondyly, Craniofacial hyperostosis, Delayed cranial suture closure, Respiratory insufficien... |
ORPHA:2484 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... |
OMIM:113000 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Cerebral cortical atrophy, Bronchiectasis, Respiratory insufficiency |
ORPHA:1164 |
Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal migration, Gray... |
OMIM:300049 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Polymicrogyria, Intracerebral periventricular calcifications, Resp... |
OMIM:608836 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Periventricular heterotopia, Cerebella... |
OMIM:618273 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Plagiocephaly, Flat occiput |
OMIM:619383 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Plagiocephaly |
ORPHA:369891 |
Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Plagiocephaly, Pleural effusion, Hypoplasia of the brainstem |
OMIM:617822 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Hypoplasia of the pons, Bicoronal syno... |
OMIM:618736 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Leukoencephalopathy, Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal deat... |
OMIM:605711 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f... |
OMIM:231070 |
Muenke Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:53271 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Agenesis of corpus callosum, Syringo... |
OMIM:207950 |
Cole-Carpenter Syndrome 1 |
|
Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Reduced bone mineral density, Wor... |
OMIM:112240 |
Leigh Syndrome, Nuclear |
|
Optic atrophy, Respiratory failure, Respiratory insufficiency, Focal substantia nigra T2 hyperint... |
OMIM:256000 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Microcephaly, Cerebral atrophy, Macrocephaly |
OMIM:300337 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Intrauterine growth retardation, Pleural effusion, Short ribs, Multipl... |
OMIM:616897 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Gray matte... |
OMIM:164180 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... |
OMIM:619847 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Secondary microcephaly, Periventricular nodular heterotopia, Intraute... |
OMIM:619737 |
Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Global brain atrophy, Cerebral atrophy, Abnormal periventricular white matter morphology, Death i... |
OMIM:615838 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis |
OMIM:619638 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Thin ribs, Coronal craniosynostosis, Lambdoidal craniosynostosis, Osteopenia, Recu... |
OMIM:616294 |
Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Plagiocephaly, Agenesis of corpus callosum |
OMIM:619435 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Re... |
ORPHA:244 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Neonatal respiratory distress, Atelectasis |
OMIM:267450 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Leukoencephalopathy, Global brain atrophy, Myelopathy, Death in childhood, C... |
OMIM:617186 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Plagiocephaly, Anterior plagiocephaly, Left unicoronal syno... |
OMIM:614749 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly |
OMIM:619910 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly |
ORPHA:178377 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Plagiocephaly, Frontal bossing, Agenesis of corpus callosum |
OMIM:619720 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Plagiocephaly |
OMIM:619833 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Atelectasis, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Recu... |
ORPHA:2314 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Polymicrogyria, Elbow contra... |
OMIM:617201 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Amyotro... |
ORPHA:803 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Hypermobility of interphalangeal joints, Wormian bones, Osteoporosis, S... |
OMIM:613849 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Distal amyotrophy, Basal ganglia calcification, Flexion contracture, Respiratory f... |
OMIM:616505 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Microcephaly, Camptodactyly, Thin corpus callosum, Gray matter heterotopia |
OMIM:619694 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Dysplastic sacrum, Large fontanelles, Death in childhood, Death ... |
OMIM:613320 |
Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia o... |
ORPHA:93274 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Myopathy, Respiratory failure, Cerebral atrophy |
ORPHA:363400 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal cerebral morphology, Focal T2 hyperintense basal ganglia lesion, Respiratory failure |
ORPHA:70472 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Recurrent respiratory infections, Plagiocephaly |
OMIM:616579 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cerebral cortical atrophy, Respiratory insufficiency, Congenital diaphragmatic hernia, Abnormalit... |
ORPHA:1166 |
Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Flat occiput |
ORPHA:46 |
Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Pansynostosis |
OMIM:180750 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Anauxetic Dysplasia 3 |
|
Recurrent respiratory infections, Plagiocephaly |
OMIM:618853 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:617622 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Recurrent pneumonia, Skeletal muscle atrophy, Secondary... |
ORPHA:496641 |
Radio-Renal Syndrome |
|
Chylothorax, Abnormal form of the vertebral bodies, Pleural effusion, Short neck, Abnormal rib mo... |
ORPHA:3015 |
Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical gyration, Muscular dystr... |
ORPHA:2671 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Respiratory failure, Wide anterior... |
OMIM:616482 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Frontal bossing |
ORPHA:371364 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy, Abnormality of somato... |
ORPHA:98755 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... |
OMIM:253310 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Partial agenesis of the... |
ORPHA:300570 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip... |
ORPHA:26791 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Horizontal ribs, Short ribs, Pulmonary hypoplasia |
OMIM:617895 |
Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Umbilical hernia, Increased bone mineral density, Reduced bone mineral density, Ky... |
OMIM:614856 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Intrauterine growth retardation, Macrocephaly, Gray matter heterotopia... |
ORPHA:2655 |
Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly |
OMIM:620149 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Microcephaly |
OMIM:617008 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory failure, Pulmo... |
ORPHA:36238 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Thin ribs, Osteopenia, Recurrent fractures, Decreased skull ossification, Decrease... |
OMIM:610915 |
Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothorax |
ORPHA:70588 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:619131 |
Avian Influenza |
|
Pneumonia, Myelitis, Pleural effusion, Rhabdomyolysis, Pneumothorax, Respiratory failure, Miscarr... |
ORPHA:454836 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:2163 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing... |
OMIM:166220 |
Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... |
ORPHA:99931 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Syringomyelia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... |
ORPHA:2481 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Microcephaly, Respiratory failure, Cerebral atrophy |
OMIM:250940 |
Raine Syndrome |
|
Plagiocephaly, Brachyturricephaly, Death in infancy, Neonatal death, Brachycephaly, Pulmonary hyp... |
OMIM:259775 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:3307 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Plagiocephaly, Agenesis of corpus callosum, Prominent occiput |
OMIM:617360 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Elbow flexion contracture, Hip contracture, Hypoplasia of the corpus callosum, Mic... |
OMIM:617301 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Recurrent fractures, Join... |
ORPHA:2050 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Syringomye... |
ORPHA:2357 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly |
ORPHA:35099 |
Intellectual Disability-Strabismus Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum |
ORPHA:363528 |
C1Q Deficiency 2 |
|
Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis |
OMIM:620321 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Absent pulmonary artery, Delayed cranial suture closure, Recurrent fractures, Death i... |
OMIM:610682 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Anterior atlanto-oc... |
ORPHA:536467 |
Acute Lung Injury |
|
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Respiratory f... |
ORPHA:178320 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Dolichocephaly, Plagiocephaly, Frontal bossing, Lateral ventricle dilatation |
ORPHA:457279 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Abnormality of the wrist, Large fontanelles, Hyperlordosis, Scoli... |
ORPHA:2511 |
Vici Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the pons, Death in infancy, Agenesis of c... |
ORPHA:1493 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficiency, Myopathy, Death in infancy,... |
OMIM:615512 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Hyperlordosis, Scoliosis,... |
OMIM:617821 |
Joubert Syndrome 1 |
|
Plagiocephaly, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar pe... |
OMIM:213300 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Leukoencephalopathy, Optic atrophy, Respiratory failure |
OMIM:618233 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Wormian bones, Thin bony cortex, Increased bone mineral density, Vertebra... |
ORPHA:85184 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Neonatal death |
OMIM:615524 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Frontal bossing, Atrophy/Degeneration affecting the brainstem |
OMIM:617193 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly |
ORPHA:96190 |
Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R... |
ORPHA:60032 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Decreased calvarial ossification, Multiple rib fractures, Wormian bone... |
OMIM:616229 |
Noonan Syndrome 13 |
|
Plagiocephaly |
OMIM:619087 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... |
ORPHA:3348 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Macrocephaly, Gray matter... |
OMIM:615219 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Optic atrophy, Macrocephaly |
ORPHA:44 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Left ventricular hypertrophy, Respiratory... |
ORPHA:308552 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicrogyria, Cerebral calcificati... |
ORPHA:157 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Pulmonary fibrosis, Abnormal pulmonary interstitial mo... |
OMIM:612387 |
Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Absent septum pelluc... |
ORPHA:35107 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Delayed cranial suture closure, Intrauterine growth retardation, Decreased skull ossif... |
ORPHA:93324 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficiency, Death in child... |
OMIM:607625 |
Kleefstra Syndrome Due To A Point Mutation |
|
Brachycephaly, Plagiocephaly |
ORPHA:261652 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Atelectasis, Death in infancy, Myopathy, Neonatal death |
OMIM:300219 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly |
OMIM:619188 |
Galloway-Mowat Syndrome 4 |
|
Plagiocephaly |
OMIM:617730 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure |
OMIM:620296 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Neonatal death, Temporal lobe dysplasia, Macrocephaly, Gray matter... |
OMIM:187600 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Abnormal cerebral white matter m... |
OMIM:300957 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... |
OMIM:300887 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Plagiocephaly |
ORPHA:251061 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Recurrent respiratory infections |
ORPHA:320385 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Osteopenia, Carpal osteolysis, Interphalangeal joint contracture of fi... |
OMIM:259600 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypopla... |
ORPHA:88618 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Congenital hip dislocation, Aspiration pneumonia, Elbow flexion contra... |
ORPHA:2020 |
Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Hypoplasia o... |
OMIM:608027 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Osteolysis invol... |
ORPHA:371428 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle... |
ORPHA:206436 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Brachycephaly, Elongated supe... |
OMIM:619512 |
Pagod Syndrome |
|
Optic atrophy, Pulmonary artery hypoplasia, Encephalocele, Congenital diaphragmatic hernia, Death... |
ORPHA:991 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol... |
OMIM:269300 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure |
OMIM:607598 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Wormian bones, Wide anterior fontanel |
OMIM:601356 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly |
OMIM:605282 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Trisomy 20P |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing |
ORPHA:261318 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology |
ORPHA:247262 |
Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly |
OMIM:618792 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior... |
ORPHA:95717 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia |
OMIM:602088 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Optic atrophy, Death in childhood, Weakness of facial musculature, Increased... |
OMIM:220110 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Large fontanelles,... |
OMIM:219150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Intrauterine growth retardation, Large placenta, Joint hypermobility, Wrist fle... |
ORPHA:254528 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Plagiocephaly, Hypoplasia of the pons, Hypoplasia of the brainstem |
OMIM:300749 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Thin ribs, Joint contracture of the hand, Posterior rib cupping, Short ribs, Short... |
OMIM:228520 |
Fg Syndrome Type 1 |
|
Craniosynostosis, Plagiocephaly, Prominent occiput |
ORPHA:93932 |
Non-Distal Duplication 10Q |
|
Brachycephaly, Frontal bossing |
ORPHA:1695 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebral atrophy, Abnormal basal ganglia morphology, Pneumothorax, Primary microcephaly, Respirat... |
ORPHA:445038 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory failure, Rhabdomyolysis |
ORPHA:449285 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory failure |
ORPHA:70578 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly |
OMIM:222748 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Respiratory insufficiency |
ORPHA:1895 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:457193 |
Pycnodysostosis |
|
Coronal craniosynostosis, Spondylolysis, Persistent open anterior fontanelle, Delayed cranial sut... |
ORPHA:763 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Lateral ventricle dilatation |
OMIM:619972 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Skeletal muscle atrophy, Respiratory insufficiency, Focal T2 hyperintense ba... |
OMIM:252010 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly |
OMIM:300699 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Subcortical white matter calcifications, Cerebellar hypoplasia, Diffuse cerebral atrophy, Absent ... |
ORPHA:3240 |
Frontonasal Dysplasia 2 |
|
Parietal foramina, Calvarial skull defect, Anterior plagiocephaly, Brachycephaly, Craniosynostosis |
OMIM:613451 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral calcificat... |
OMIM:620024 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly |
OMIM:601224 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... |
ORPHA:60025 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Osteoporosis |
ORPHA:2788 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly |
ORPHA:2528 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Abnormal lung lobation, Congenital diaphragmatic hernia, Death in infa... |
ORPHA:1120 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Dolichocephaly, Plagiocephaly |
ORPHA:2215 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly |
OMIM:619680 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Joint hypermo... |
ORPHA:2789 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Abnormality of neuronal migration, Micr... |
ORPHA:2065 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele |
OMIM:168500 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Recurrent pneumonia, Agenesis of corpus callosum, Microcephaly, Ca... |
ORPHA:209905 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
Xq28 (MECP2) duplication |
|
Brachycephaly, Recurrent respiratory infections, Death in childhood |
DECIPHER:45 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Partial absenc... |
OMIM:620371 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly |
OMIM:618106 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Abnormal periventricular white matter morp... |
OMIM:615960 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Arthritis, Ab... |
ORPHA:420741 |
Poliomyelitis |
|
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... |
ORPHA:2912 |
Chromosome 17P13.1 Deletion Syndrome |
|
Brachycephaly, Plagiocephaly, Turricephaly |
OMIM:613776 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Respiratory failure, Right ventricular hypertrophy, Abnormal basal ... |
ORPHA:444013 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the lungs, Turricephaly |
ORPHA:2145 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Rh... |
OMIM:610505 |
Osteogenesis Imperfecta, Type Xx |
|
Brachycephaly, Plagiocephaly |
OMIM:618644 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Massively thickened long bone cortices, Wormian bones, Short... |
ORPHA:1798 |
Waardenburg Syndrome Type 3 |
|
Microcephaly, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
Menkes Disease |
|
Intrauterine growth retardation, Death in childhood, Joint hypermobility, Wormian bones, Osteopor... |
OMIM:309400 |
Leigh Syndrome |
|
Diffuse spongiform leukoencephalopathy, Optic atrophy, Neuronal loss in basal ganglia, Skeletal m... |
ORPHA:506 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarse metaphyseal trabecularization, Delayed cranial suture closure, Facial hyperostosis, Large ... |
ORPHA:2780 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Mi... |
OMIM:616777 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... |
ORPHA:922 |
Schisis Association |
|
Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Anencephaly |
ORPHA:63862 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Brachycephaly, Plagiocephaly |
ORPHA:500055 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Respiratory insufficiency, Camptodactyly of finger, Intrauterine growth retarda... |
ORPHA:2311 |
Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Joint hypermobility, Pulmonary artery stenosis, Craniosynostosis, Respi... |
ORPHA:3342 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respirato... |
OMIM:610978 |
Pycnodysostosis |
|
Spondylolysis, Persistent open anterior fontanelle, Spondylolisthesis, Wormian bones, Increased b... |
OMIM:265800 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Osteopenia, Intrauterine growth retardation, Large fontanelles, Joint... |
OMIM:612940 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Intrauterine growth retardation, Reduc... |
OMIM:613658 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor... |
OMIM:300232 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Diffuse white matter abnormalities, Cerebral atrophy, Microcephaly, Limb hypertoni... |
OMIM:259720 |
Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Intrauterine growth retardation, Hyp... |
OMIM:247200 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Delayed cranial suture closure, Os odontoideum, Intrauterine growth retardation, Join... |
OMIM:616603 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dolichocephaly, Plagiocephaly, Frontal bossing, Death in childhood |
OMIM:619005 |
ERI1-related disease |
|
Platyspondyly, Osteopenia, Intrauterine growth retardation, Increased vertebral height, Limited e... |
OMIM:608739 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Respiratory failure, Microcephaly |
ORPHA:2707 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormality of the costochondral junction, Large placenta, Short neck, Anterior rib cupping, Coat... |
ORPHA:96334 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Plagiocephaly |
OMIM:239300 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Plagiocephaly, Turricephaly |
OMIM:620224 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Cerebral atrophy, Death in childhood, Patent urachus, Respiratory failure |
OMIM:618252 |
Acrocallosal Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... |
ORPHA:36 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly |
OMIM:615471 |
Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Large font... |
OMIM:603116 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Respiratory insufficiency, Secondary microcephaly, Cerebellar hypoplasia, Respirat... |
OMIM:618329 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing |
ORPHA:85199 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Skeletal muscle atrophy, Abnormality of neuronal migration, Microcephaly, Re... |
ORPHA:647 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic dis... |
ORPHA:468631 |
Cleidocranial Dysplasia |
|
Genu valgum, Large fontanelles, Decreased skull ossification, Wormian bones, Abnormal rib morphol... |
ORPHA:1452 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Large fontanelles, Elbow dislocation, Delayed cranial suture closure |
ORPHA:2249 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:610759 |
Craniosynostosis 2 |
|
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Metopic synostosis, Craniosynostosis |
OMIM:604757 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Plagiocephaly, Pleural effusion |
ORPHA:453499 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Elbow flexion co... |
OMIM:300868 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Hypophosphatemic rickets, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:794 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Agenesis of corpus callosum, Brachycephaly, Abnormal shape of the occiput, Fr... |
OMIM:218350 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Macrocephaly, Gray matter heterotopia, Macroglossia... |
OMIM:619775 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency |
OMIM:609015 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Encephal... |
ORPHA:475 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia, Camptodactyly of... |
OMIM:175700 |
Linear Nevus Sebaceus Syndrome |
|
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing |
ORPHA:2612 |
Atelosteogenesis Type Ii |
|
Plagiocephaly, Pulmonary hypoplasia |
ORPHA:56304 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... |
OMIM:614008 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... |
OMIM:614105 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Frontal bossing, Turricephaly |
OMIM:613603 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Hyperlordosis, Respiratory i... |
ORPHA:365 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Carey-Fineman-Ziter Syndrome 1 |
|
Plagiocephaly, Hypoplasia of the brainstem |
OMIM:254940 |
Chromosome 16Q22 Deletion Syndrome |
|
Wormian bones, Short neck, Wide anterior fontanel, Prominent metopic ridge |
OMIM:614541 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly |
ORPHA:2916 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum |
OMIM:613457 |
Mercury Poisoning |
|
Interstitial pneumonitis, Abnormal cerebral white matter morphology, Respiratory failure |
ORPHA:330021 |
Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Respiratory failure, Right ventricular hypertrophy, Anomalous pu... |
ORPHA:555874 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina |
ORPHA:52022 |
Tenorio Syndrome |
|
Osteopenia, Recurrent pneumonia, Delayed cranial suture closure, Joint hypermobility, Scoliosis |
OMIM:616260 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Brachycephaly, Plagiocephaly, Aspiration pneumonia |
OMIM:301072 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Plagiocephaly |
OMIM:619227 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Pleural effusion, Respiratory failure |
ORPHA:542323 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly |
OMIM:261990 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Camptodactyly of finger |
ORPHA:2863 |
3C Syndrome |
|
Optic atrophy, Death in infancy, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... |
ORPHA:7 |
Otopalatodigital Syndrome, Type Ii |
|
Platyspondyly, Congenital hip dislocation, Spondylolysis, Stillbirth, Umbilical hernia, Elbow con... |
OMIM:304120 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Joint contracture of the hand, Cerebral atrophy, Hypoplasia of the brainstem, Seco... |
OMIM:251300 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lower limb muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Skeletal myopathy, Left ve... |
ORPHA:746 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Plagiocephaly, Frontal bossing, Abnormal lung lobation |
ORPHA:2538 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Platyspondyly, Osteopenia, Increased vertebral height, Limited elbow extension, Wormian bones, Se... |
OMIM:620663 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick... |
ORPHA:98889 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Increased susceptibility to fractures, Joint hypermobi... |
OMIM:166200 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Respiratory failure, Limited wrist movement, Limited elbow movement |
OMIM:617809 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia, Hypoplasia of the corpus callosum |
OMIM:618974 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Plagiocephaly, Frontal bossing |
OMIM:305450 |
Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Osteopenia, Increased vertebral height, Wormian bon... |
OMIM:620662 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly |
OMIM:615656 |
Alg11-Cdg |
|
Cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Limb hypertonia, Abnormal cerebral... |
ORPHA:280071 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Wormian bones, Congenital hip dislocation |
OMIM:614450 |
Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Hypoplasia of the brainstem, Intrauterine growth retardation, Hypo... |
OMIM:605039 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono... |
ORPHA:79138 |
Alg12-Cdg |
|
Recurrent pneumonia, Posterior plagiocephaly, Recurrent respiratory infections, Recurrent pharyng... |
ORPHA:79324 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Nonarteriosclerotic cerebral calcification |
OMIM:210050 |
Mhc Class I Deficiency 1 |
|
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis |
OMIM:604571 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri... |
OMIM:618733 |
Adnp Syndrome |
|
Trigonocephaly, Recurrent upper respiratory tract infections, Plagiocephaly, Brachycephaly |
ORPHA:404448 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ... |
ORPHA:357058 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Respiratory insufficiency, Death in childhood, Hypoplasia of the corpus callosum, Pu... |
OMIM:618278 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormali... |
ORPHA:2318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy, Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II li... |
OMIM:615287 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicrogyria, Intracerebral perive... |
ORPHA:228308 |
Fragile X Syndrome |
|
Periventricular heterotopia, Macrocephaly |
OMIM:300624 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Abnormality... |
ORPHA:333 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly |
OMIM:612247 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Posterior plagiocephaly |
OMIM:617798 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Brachycephaly, Plagiocephaly |
ORPHA:495818 |
Trichohepatoneurodevelopmental Syndrome |
|
Brachycephaly, Plagiocephaly |
OMIM:618268 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rachitic rosary, Rickets, Osteomalacia, Enlargement of the wrist... |
ORPHA:289157 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Respiratory tract infection, Agenesis of corpus callosum |
OMIM:218000 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly |
OMIM:618859 |
Fibrochondrogenesis |
|
Plagiocephaly |
ORPHA:2021 |
Grant Syndrome |
|
Wormian bones |
OMIM:138930 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia of the corp... |
ORPHA:192 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Macrocephaly |
ORPHA:1860 |
Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ankylosis, Abnorm... |
ORPHA:83 |
Faciocardiorenal Syndrome |
|
Plagiocephaly |
ORPHA:1973 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Plagiocephaly, Pulmonary artery stenosis, Brachycephaly, Fr... |
OMIM:280000 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormi... |
OMIM:130720 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum |
ORPHA:457284 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cerebral atrophy, Neonatal respiratory distress, Gray matter heterotopia, Hypoplasia of the corpu... |
OMIM:618797 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Neonatal death, Resp... |
OMIM:617248 |
Pierpont Syndrome |
|
Brachycephaly |
ORPHA:487825 |
Cranioectodermal Dysplasia 2 |
|
Recurrent pneumonia, Plagiocephaly, Dolichocephaly, Craniosynostosis, Frontal bossing, Cloverleaf... |
OMIM:613610 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Tracheomalacia, Atelectasi... |
OMIM:613177 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Genu recurvatum, Joint contracture of the hand, Elbow dislocation, Emphysema, Small an... |
OMIM:224690 |
Au-Kline Syndrome |
|
Craniosynostosis, Plagiocephaly, Sagittal craniosynostosis, Dolichocephaly |
OMIM:616580 |
9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:531151 |
Listeriosis |
|
Pneumonia, Stiff neck, Osteomyelitis, Abnormality of the anterior fontanelle, Septic arthritis, R... |
ORPHA:533 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum |
OMIM:616854 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Wormian bones, Osteolyt... |
OMIM:259100 |
Myhre Syndrome |
|
Platyspondyly, Limitation of joint mobility, Respiratory insufficiency, Broad ribs, Intrauterine ... |
OMIM:139210 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Periventricular heterotopia, Absent septum pellucidum, Scapular wi... |
OMIM:618870 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypoplastic olfactory lobes, Cerebral cortical atrophy, Neonatal respiratory distress, Macrogloss... |
OMIM:214100 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Plagiocephaly |
OMIM:620083 |
Clark-Baraitser Syndrome |
|
Dolichocephaly, Brachycephaly |
OMIM:617752 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Short neck, Protrusio acetabuli, Spinal rigidity... |
ORPHA:800 |
Pierpont Syndrome |
|
Brachycephaly |
OMIM:602342 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Foot acroosteolysis, Tall lumbar vertebral bodies, Umbilical hernia, Dislocated radia... |
OMIM:102500 |
Cleidocranial Dysplasia 1 |
|
Spondylolysis, Hip dislocation, Neonatal respiratory distress, Persistent open anterior fontanell... |
OMIM:119600 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Congenital diaphragmatic herni... |
OMIM:219100 |
Ear-Patella-Short Stature Syndrome |
|
Elbow dislocation, Camptodactyly of finger, Intrauterine growth retardation, Patellar aplasia, Jo... |
ORPHA:2554 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly |
OMIM:615031 |
Aymé-Gripp Syndrome |
|
Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:1272 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal cerebral cortex morphology, Global brain atrophy, Lateral ventricle dilat... |
ORPHA:500150 |
Joubert Syndrome 21 |
|
Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Megalopapilla, Hypoplasia of... |
OMIM:615636 |
Osteogenesis Imperfecta |
|
Thin ribs, Enlarged vertebral pedicles, Genu valgum, Large fontanelles, Decreased skull ossificat... |
ORPHA:666 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Interstitial emphysema, Hypoplasia of the pons, Polymicrogyria, Knee flexion contr... |
OMIM:619708 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia |
ORPHA:2140 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Scoliosis, Delayed cranial suture closure |
ORPHA:276432 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly |
OMIM:309541 |
Gapo Syndrome |
|
Plagiocephaly, Frontal bossing |
OMIM:230740 |
Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Plagiocephaly |
ORPHA:2673 |
Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Respiratory insuffic... |
ORPHA:2162 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Abnormal rib morphology, Humeroradial synostosis, Short ribs, Short sternum, Ovoid tho... |
ORPHA:3404 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing |
ORPHA:314575 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly |
OMIM:614416 |
Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Craniosynostosis, Wide anterior fontanel |
OMIM:601853 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... |
ORPHA:2211 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Calvarial skull defect, Agenesis of corpus callosum, Brachycephaly, Fro... |
ORPHA:228390 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Respiratory insufficiency, Camptodactyly of finger, Delayed cranial suture closure, Sc... |
ORPHA:2135 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior... |
ORPHA:95716 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure |
ORPHA:158687 |
Lowry-Maclean Syndrome |
|
Osteopenia, Small anterior fontanelle, Intrauterine growth retardation, Osteoporosis, Widely pate... |
ORPHA:2409 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly |
OMIM:615834 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Dolichocephaly, Plagiocephaly |
ORPHA:1101 |
Aicardi Syndrome |
|
Optic atrophy, Cerebellar vermis hypoplasia, Recurrent pneumonia, Lateral ventricle dilatation, O... |
OMIM:304050 |
Arboleda-Tham Syndrome |
|
Plagiocephaly, Recurrent respiratory infections, Craniosynostosis, Recurrent aspiration pneumonia... |
OMIM:616268 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Cerebral calcification, Periventricular heterotopia, Agenesis of corpus callosum, ... |
OMIM:618476 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly |
OMIM:618548 |
Halperin-Birk Syndrome |
|
Optic atrophy, Umbilical hernia, Intrauterine growth retardation, Congenital diaphragmatic hernia... |
OMIM:618651 |
Cleidocranial Dysplasia 2 |
|
Plagiocephaly |
OMIM:620099 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Trigonocephaly, Brachycephaly, Dolichocephaly, Flat occiput |
OMIM:613792 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Umbilical hernia, Undulate ribs, Short ribs, Wide cranial s... |
OMIM:618188 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Respiratory insufficiency, Intrauterine growth retardation, Neonatal death, Macrocep... |
OMIM:269860 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly |
ORPHA:352530 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Aplasia/Hypoplasia of... |
ORPHA:1454 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum, Turricephaly, Brachycephaly, Craniosynostosis, Frontal bossing |
OMIM:613174 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Intrauterine growth retardation, Respiratory tract infection, Decreased he... |
ORPHA:125 |
Crouzon Syndrome |
|
Brachycephaly, Frontal bossing, Multiple suture craniosynostosis, Turricephaly |
ORPHA:207 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Microcephaly, Intrauterine growth retardation |
OMIM:613804 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Death in childhood, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:210710 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Turricephaly |
ORPHA:171839 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Cervical ribs, Wormian bones, Flexion contracture of f... |
OMIM:601812 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia ... |
ORPHA:2847 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Microcephaly, Camptodactyly of finger, Agenesis of corpus call... |
ORPHA:261236 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys... |
ORPHA:314679 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed cranial suture closure, Death in early adulthood, Wormian bones, Acroosteolysis of distal... |
OMIM:608612 |
Microphthalmia, Syndromic 9 |
|
Pulmonary hypoplasia, Agenesis of pulmonary vessels, Respiratory insufficiency, Intrauterine grow... |
OMIM:601186 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Tracheomalacia, Sacral dimple, Joint hypermobility, Wide cranial sutures, Radial head... |
OMIM:601390 |
Turnpenny-Fry Syndrome |
|
Brachycephaly, Recurrent respiratory infections, Plagiocephaly, Frontal bossing |
OMIM:618371 |
De Barsy Syndrome |
|
Congenital hip dislocation, Osteopenia, Umbilical hernia, Intrauterine growth retardation, Kyphos... |
ORPHA:2962 |
Immunodeficiency 49 |
|
Pulmonary artery stenosis, Eosinophilia, Wormian bones, Umbilical hernia |
OMIM:617237 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Microcephaly, Agenesis of corpus callosum |
OMIM:619312 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Brachycephaly, Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t... |
ORPHA:75857 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Frontal bossing, Turricephaly |
ORPHA:93262 |
Duane Retraction Syndrome |
|
Plagiocephaly |
ORPHA:233 |
8Q12 Microduplication Syndrome |
|
Brachycephaly |
ORPHA:228399 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly |
ORPHA:93950 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse metaphyseal trabecularization, Hypoplastic 5th lumbar vertebrae, Umbilical her... |
ORPHA:955 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Plagiocephaly |
ORPHA:50 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Frontal bossing |
OMIM:617364 |
Cornelia De Lange Syndrome 2 |
|
Brachycephaly |
OMIM:300590 |
Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly |
ORPHA:45358 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Abnormal lung lobation, Intrauterine growth retardation, Absent septu... |
OMIM:236680 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Dolichocephaly, Partial agenesis of the corpus callosum, Plagiocephaly, Frontal bossing |
OMIM:619480 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons |
ORPHA:280195 |
Pseudodiastrophic Dysplasia |
|
Brachycephaly, Frontal bossing |
OMIM:264180 |
Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Recurrent upper respiratory tract infections, Hypoplasia of the odontoi... |
OMIM:602535 |
Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Death in infancy, Brachycephaly, Craniosynostosis, Recurrent respiratory infections |
ORPHA:1790 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Joint subluxation, Respiratory insuffi... |
ORPHA:90349 |
Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... |
OMIM:101400 |
Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, Frontal bossing |
OMIM:600325 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Posterior plagiocephaly, Plagiocephaly, Agenesis of corpus callosum, Dolichocephaly, Frontal bossing |
OMIM:619841 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly |
OMIM:615419 |
Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Brachycephaly |
OMIM:620688 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Lateral ventricle dilatation, Posterior plagiocephaly |
OMIM:615873 |
Degcags Syndrome |
|
Pneumonia, Craniosynostosis, Plagiocephaly, Agenesis of corpus callosum |
OMIM:619488 |
Laurence-Moon Syndrome |
|
Brachycephaly |
ORPHA:2377 |
Malignant Atrophic Papulosis |
|
Ischemic stroke, Pleural effusion, Respiratory failure |
ORPHA:679 |
Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Osteopenia, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip dislocation... |
ORPHA:90348 |
Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Respiratory failure |
ORPHA:563 |
Desanto-Shinawi Syndrome |
|
Brachycephaly |
OMIM:616708 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology, Periventricular leukomalacia |
ORPHA:163681 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Rickets, Abnormal form of the vertebral bodies, Osteomalacia, Intrauterine growth ret... |
ORPHA:2636 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Recurrent pneumonia, Decreased number of sternal ossification centers, Tracheomalacia,... |
OMIM:234100 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Delayed cranial suture closure, Cortical irregularity, Anterior concavity of thoracic... |
OMIM:249420 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly |
OMIM:615761 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:615828 |
Costello Syndrome |
|
Tracheomalacia, Respiratory insufficiency, Limited elbow movement, Short neck, Pneumothorax, Achi... |
OMIM:218040 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Brachycephaly, Agenesis of corpus callosum |
OMIM:618142 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Plagiocephaly, Aspiration pneumonia |
ORPHA:444077 |
Nocardiosis |
|
Pneumonia, Emphysema, Osteomyelitis, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure |
ORPHA:31204 |
X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Lateral ventricle dilatation |
ORPHA:85290 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Genu valgum, Limited elbow extension, Anterior concavity of thora... |
OMIM:309350 |
Cornelia De Lange Syndrome 5 |
|
Brachycephaly |
OMIM:300882 |
Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Delayed cranial suture closure |
OMIM:180860 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dolichocephaly, Plagiocephaly |
OMIM:619475 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Anterior plagiocephaly |
OMIM:619718 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:1521 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Trigonocephaly, Scaphocephaly, Agenesis of corpus callosum, Brachycephaly, Sagittal craniosynostosis |
ORPHA:459061 |
Holoprosencephaly 14 |
|
Macrocephaly, Periventricular heterotopia, Absent septum pellucidum, Microcephaly, Partial absenc... |
OMIM:619895 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Brachycephaly, Plagiocephaly |
ORPHA:2785 |
Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Joint dislocation, Pleural effusion, Arthritis |
ORPHA:36412 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Elbow flexion contracture, Broad ribs, Intrauterine growth retard... |
OMIM:151050 |
Apert Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed epiphyseal ossification, Synostosi... |
OMIM:101200 |
Man1B1-Cdg |
|
Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Delayed cranial suture closure, Joint stiffness, Large fontanelles, Short neck, Osteochondrosis, ... |
ORPHA:2995 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,... |
OMIM:619179 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Recurrent pneumonia, Posterior plagiocephaly, Scaphocephaly, Recurrent bronchitis, Brachycephaly,... |
OMIM:620330 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1387 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Tracheomalacia, Sacral dimple, Joint hypermobility, Wide cranial sutures, Hip subluxa... |
OMIM:615546 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynein arms |
OMIM:244400 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry |
ORPHA:137634 |
Marbach-Rustad Progeroid Syndrome |
|
Wormian bones, Intrauterine growth retardation, Femur fracture, Reduced bone mineral density |
OMIM:619322 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Coffin-Siris Syndrome 1 |
|
Plagiocephaly, Partial agenesis of the corpus callosum, Brachycephaly, Recurrent respiratory infe... |
OMIM:135900 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Cerebral cortical atrophy, Distal amyotrophy, Skeletal muscle a... |
ORPHA:273 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thickened calvaria, Dysplastic corpus callosum, Plagiocephaly, Frontal bossing |
ORPHA:466791 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, Frontal bossing |
OMIM:615539 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Craniosynostosis, Lateral ventricle dilatation, Atrophy/Degeneratio... |
ORPHA:356961 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Ankle flexion contracture, Intrauterine growth retardation, Hypoplasia... |
ORPHA:464311 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Macrocephaly, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Hip dislocation, Patellar dislocation, Atelectasis, Umbilical hernia, Osteomalacia... |
ORPHA:534 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi... |
OMIM:611812 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Limitation of joint mobility, Large fontanelles, Wormian bones, Acroosteolysis of distal phalange... |
ORPHA:90153 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Delayed cranial suture closure, Facial hypero... |
ORPHA:2658 |
Abetalipoproteinemia |
|
Osteopenia, Respiratory failure, Kyphoscoliosis |
ORPHA:14 |
Meier-Gorlin Syndrome 6 |
|
Umbilical hernia, Emphysema, Microcephaly, Recurrent respiratory infections, Simplified gyral pat... |
OMIM:616835 |
Recombinant Chromosome 8 Syndrome |
|
Brachycephaly |
OMIM:179613 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Osteopenia, Pulmonary fibrosis |
OMIM:620365 |
2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly |
ORPHA:251019 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Flat acetabular roof, Fused cervical vertebrae |
OMIM:617159 |
Occipital Horn Syndrome |
|
Platyspondyly, Synostosis of joints, Hip dislocation, Osteopenia, Rickets, Delayed cranial suture... |
ORPHA:198 |
German Syndrome |
|
Dolichocephaly, Brachycephaly |
ORPHA:2077 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Hypoplasia of the corpus callosum, Colpocephaly, Biparietal narrowin... |
ORPHA:261250 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Plagiocephaly, Sagittal craniosynostosis, Hypoplasia of the pons |
OMIM:620455 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... |
OMIM:620233 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Spondylolisthesis, Joint hypermobility, Pneumothorax, Scoliosis, Protrusio acetabuli |
OMIM:614816 |
Craniodigital-Intellectual Disability Syndrome |
|
Brachycephaly |
ORPHA:1514 |
Dubowitz Syndrome |
|
Delayed cranial suture closure, Respiratory insufficiency, Intrauterine growth retardation, Joint... |
ORPHA:235 |
Koolen-De Vries Syndrome |
|
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Hypotrophy of t... |
OMIM:610443 |
Achard Syndrome |
|
Brachycephaly, Broad skull |
OMIM:100700 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Agenesis of corpus callosum |
OMIM:109120 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Brachycephaly |
OMIM:620240 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Umbilical hernia, Respiratory insufficiency, Intrauterine growth re... |
OMIM:612289 |
Silver-Russell Syndrome |
|
Intrauterine growth retardation, Scoliosis, Delayed cranial suture closure |
ORPHA:813 |
White-Sutton Syndrome |
|
Hypoplastic cervical vertebrae, Intrauterine growth retardation, Joint hypermobility, Wormian bon... |
OMIM:616364 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... |
ORPHA:63260 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogyria, Occipital meningocele,... |
OMIM:616546 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly |
OMIM:300958 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Plagiocephaly, Skull asymmetry... |
OMIM:150230 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Delayed cranial suture closure, Elbow flexion contracture, Joint stiffness, Wormian b... |
OMIM:248370 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... |
ORPHA:95430 |
Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly |
OMIM:619504 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Intrauterine growth retardation, Congenital diaphragmatic hernia, Pulmo... |
ORPHA:2470 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Absent septum pellucidum, Agenesis of corpus callosum, Microceph... |
ORPHA:2556 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis |
ORPHA:93258 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly |
ORPHA:1327 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cerebellar vermis hypoplasia, Umbilical hernia, Secondary microcephaly, Cavum septum pellucidum, ... |
OMIM:620654 |
Doors Syndrome |
|
Aspiration pneumonia, Prominent occiput, Anterior plagiocephaly, Brachycephaly, Sagittal craniosy... |
ORPHA:79500 |
Aicardi-Goutières Syndrome |
|
Plagiocephaly |
ORPHA:51 |
Iniencephaly |
|
Lissencephaly, Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalo... |
ORPHA:63259 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Pleural effusion, Back pain, Pulmonary edema, Respiratory failure |
ORPHA:340 |
Ring Chromosome 7 Syndrome |
|
Brachycephaly, Plagiocephaly |
ORPHA:1449 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure |
ORPHA:1129 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Myopathy, Agenesis of corpus callosum, Microcephaly, Schizencephaly... |
OMIM:242840 |
Achondrogenesis, Type Ii |
|
Brachycephaly, Frontal bossing, Stillbirth |
OMIM:200610 |
Microcephalic osteodysplastic primordial dwarfism, type III |
|
Delayed cranial suture closure, Dislocation of the femoral head, Intrauterine growth retardation,... |
OMIM:210730 |
Niemann-Pick Disease Type C |
|
Cerebral atrophy, Respiratory insufficiency, Aspiration pneumonia, Hypoplasia of the corpus callo... |
ORPHA:646 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide anterior fontanel, Hypoplastic sacrum, Thoracic hemivertebrae, Umbilical hernia, Delayed cra... |
OMIM:268310 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
Medulloblastoma |
|
Back pain, Neoplasm of the lung, Delayed cranial suture closure |
ORPHA:616 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:300260 |
Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... |
OMIM:123500 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Brachycephaly, Recurrent upper respiratory tract infections, Hypoplasia of the pons |
OMIM:612513 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic herni... |
OMIM:614437 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of olfactory ... |
ORPHA:2754 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... |
OMIM:615067 |
Fetal Trimethadione Syndrome |
|
Brachycephaly |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Frontal bossing, Agenesis of corpus callosum |
OMIM:612582 |
Smith-Magenis Syndrome |
|
Brachycephaly |
OMIM:182290 |
Mandibuloacral Dysplasia |
|
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... |
ORPHA:2457 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Gray matter heterotopia, Umbilical hernia |
OMIM:620475 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Broad ribs, Sclerosis of skull base, Hypoplasia of first ribs, M... |
OMIM:269150 |
Autosomal Dominant Primary Microcephaly |
|
Microcephaly |
ORPHA:2514 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly |
ORPHA:3306 |
2Q23.1 Microdeletion Syndrome |
|
Brachycephaly |
ORPHA:228402 |
Periventricular Nodular Heterotopia 9 |
|
Polymicrogyria, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Microceph... |
OMIM:618918 |
Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia, Premature osteoa... |
OMIM:611962 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachycephaly, Lateral ventricle dilatation |
OMIM:619995 |
Kury-Isidor Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:619762 |
Lujan-Fryns Syndrome |
|
Brachycephaly |
ORPHA:776 |
Congenital Disorder Of Glycosylation, Type Il |
|
Brachycephaly, Frontal bossing |
OMIM:608776 |
Chromosome 2Q37 Deletion Syndrome |
|
Brachycephaly |
OMIM:600430 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Brachycephaly, Flat occiput |
OMIM:617452 |
Lymphangioleiomyomatosis |
|
Optic atrophy, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax,... |
ORPHA:538 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Brachycephaly, Agenesis of corpus callosum |
OMIM:620073 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Calcification of falx cerebri, Tubulonodular pericallosal li... |
OMIM:603671 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:619244 |
Common Variable Immunodeficiency |
|
Pneumonia, Emphysema, Recurrent bronchitis, Brachycephaly, Recurrent respiratory infections, Bron... |
ORPHA:1572 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Prominent occiput |
OMIM:220210 |
Immunodeficiency 89 And Autoimmunity |
|
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening |
OMIM:619632 |
Liver Disease, Severe Congenital |
|
Pulmonary edema, Pneumonia, Plagiocephaly |
OMIM:619991 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Brachycephaly |
OMIM:618828 |
Faundes-Banka Syndrome |
|
Plagiocephaly, Frontal bossing |
OMIM:619376 |
Marfan Syndrome |
|
Osteopenia, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Reduced bone minera... |
ORPHA:558 |
Curry-Jones Syndrome |
|
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Lipomyelomeningocele, Occipital menin... |
OMIM:601707 |
Frontonasal Dysplasia 3 |
|
Brachycephaly |
OMIM:613456 |
Cooper-Jabs Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:1488 |
Netherton Syndrome |
|
Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Brachycephaly, Flat occiput |
ORPHA:505237 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:608688 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Brachycephaly, Neonatal death |
OMIM:619859 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Osteoporosis, Pneumothorax, Respiratory failure |
ORPHA:79404 |
Larsen-Like Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:608545 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Trigonocephaly, Brachycephaly, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:619148 |
Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly |
OMIM:609757 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Bronchiectasis, Bronchitis |
ORPHA:60 |
Pde4D Haploinsufficiency Syndrome |
|
Thickened calvaria, Brachycephaly, Frontal bossing |
ORPHA:439822 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Umbilical hernia, Broad ribs, Sclerosis of skull base, Kyphoscoliosis, Stiff... |
ORPHA:798 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Delayed cranial suture closure, Respiratory insufficiency, Intrauterine growth retardation, 11 pa... |
OMIM:620005 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Arthrogryposis multiplex congenita, Delayed cranial suture closure, Umbilical ... |
OMIM:601776 |
Den Hoed-De Boer-Voisin Syndrome |
|
Death in adolescence, Recurrent lower respiratory tract infections, Brachycephaly, Lateral ventri... |
OMIM:619229 |
48,Xxxy Syndrome |
|
Brachycephaly, Recurrent respiratory infections, Azoospermia |
ORPHA:96263 |
Monosomy 18P |
|
Brachycephaly |
ORPHA:1598 |
Alg9-Cdg |
|
Pulmonary hypoplasia, Abnormal lung lobation, Delayed cranial suture closure, Short neck, Abnorma... |
ORPHA:79328 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr... |
OMIM:311200 |
Lig4 Syndrome |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:606593 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Rhabdomyosarcoma, Agenesis of corpus callosum |
OMIM:276300 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Osteopenia, Delayed cranial suture closure, Umbilical hernia, Intraut... |
OMIM:278250 |
Mesomelic Dysplasia, Nievergelt Type |
|
Dolichocephaly, Brachycephaly |
ORPHA:2633 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly |
OMIM:612379 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
49,Xxxxy Syndrome |
|
Brachycephaly, Recurrent respiratory infections, Azoospermia |
ORPHA:96264 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... |
ORPHA:352665 |
Smith-Magenis Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:819 |
Contractural Arachnodactyly, Congenital |
|
Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly |
OMIM:121050 |
Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Respiratory tract infection, Cortical dysplasia, Cortical tubers,... |
ORPHA:805 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
Distal Deletion 10Q |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Lateral ventricle dilatation |
ORPHA:96148 |
Marfan Syndrome |
|
Genu recurvatum, Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Limited elbow ... |
OMIM:154700 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Brachycephaly |
OMIM:268850 |
Fraser Syndrome 2 |
|
Short neck, Respiratory failure |
OMIM:617666 |
Kleefstra Syndrome |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Brachycephaly, Agenesis of corpus ca... |
ORPHA:261494 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Brachycephaly |
OMIM:301041 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Brachycephaly |
ORPHA:254346 |
Orofaciodigital Syndrome Ii |
|
Wormian bones, Scoliosis |
OMIM:252100 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Osteopenia, Umbilical hernia, Intrauterine growth retardation, Kyphos... |
ORPHA:2834 |
Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis |
OMIM:201000 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Brachyturricephaly, Agenesis of corpus callosum |
ORPHA:314621 |
22Q11.2 Deletion Syndrome |
|
Atelectasis, Umbilical hernia, Abnormal lung lobation, Multiple suture craniosynostosis, Intraute... |
ORPHA:567 |
Kleefstra Syndrome 1 |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:610253 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Osteopenia, Delayed cranial suture closure, Joint stiffness, Genu valgum, Death in chi... |
OMIM:619127 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Biparietal narrowing, Frontal bossing |
ORPHA:1292 |
Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Paucity of a... |
ORPHA:79139 |
Al Kaissi Syndrome |
|
Brachycephaly |
OMIM:617694 |
Denys-Drash Syndrome |
|
Neonatal respiratory distress, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hern... |
OMIM:194080 |
Alagille Syndrome |
|
Brachycephaly, Peripheral pulmonary artery stenosis, Frontal bossing |
ORPHA:52 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Brachycephaly, Agenesis of corpus callosum, Flat occiput |
ORPHA:96147 |
Lujo Hemorrhagic Fever |
|
Cerebral edema, Atelectasis |
ORPHA:319213 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:731 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Polymicrogyria, Periv... |
OMIM:615948 |
Cerebrooculonasal Syndrome |
|
Brachycephaly |
ORPHA:66625 |
Menkes Disease |
|
Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Intrauterine growth retardation, Joint hyperm... |
ORPHA:565 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly |
ORPHA:404440 |
Stevenson-Carey Syndrome |
|
Brachycephaly |
OMIM:611961 |
Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Epiphyseal stipplin... |
OMIM:245150 |
Ogden Syndrome |
|
Congenital hip dislocation, Peripheral pulmonary artery stenosis, Large posterior fontanelle, Umb... |
OMIM:300855 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly |
ORPHA:364028 |
Ellis Van Creveld Syndrome |
|
Synostosis of carpal bones, Emphysema, Intrauterine growth retardation, Genu valgum, Cubitus valg... |
ORPHA:289 |
Martsolf Syndrome 1 |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:212720 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure |
OMIM:613038 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior... |
ORPHA:90674 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Frontal bossing |
OMIM:207410 |
Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Brachycephaly, Plagiocephaly |
OMIM:607932 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Large fontanelles |
OMIM:257850 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Brachycephaly |
OMIM:615398 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Delayed cranial suture closure, Intrau... |
OMIM:105650 |
Acrofrontofacionasal Dysostosis 2 |
|
Brachycephaly |
OMIM:239710 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly |
ORPHA:3042 |
Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Pleural effusion, Bone cyst, Arthritis, Abnormal pulmonary interstitial morphology, Pu... |
OMIM:181000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Decreased calvarial ossification, Brachycephaly, Frontal bossing, Pulmonary hypop... |
OMIM:617925 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Trisomy 10P |
|
Abnormal hip joint morphology, Intrauterine growth retardation, Wide cranial sutures, Hemivertebr... |
ORPHA:171929 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Parietal bossing, Cranial asymmetry, Pa... |
OMIM:610828 |
Smith-Lemli-Opitz Syndrome |
|
Global brain atrophy, Abnormal lung lobation, Intrauterine growth retardation, Periventricular he... |
OMIM:270400 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Intrauterine growth retardation, Decreased skull ossification, Ca... |
ORPHA:93325 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Brachycephaly |
ORPHA:562528 |
Lig4 Syndrome |
|
Brachycephaly, Biparietal narrowing |
ORPHA:99812 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Acrofrontofacionasal Dysostosis |
|
Brachycephaly |
ORPHA:1784 |
Momo Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:157980 |
Acromelic Frontonasal Dysplasia |
|
Brachycephaly, Agenesis of corpus callosum |
ORPHA:1827 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Hypermobility of inte... |
OMIM:130050 |
Warburg Micro Syndrome 4 |
|
Brachycephaly |
OMIM:615663 |
Frontofacionasal Dysplasia |
|
Brachycephaly |
ORPHA:1791 |
Angelman Syndrome |
|
Brachycephaly, Flat occiput |
OMIM:105830 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Recurrent respiratory infections |
ORPHA:261349 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Large fontanelles, Delayed cranial suture closure |
OMIM:261515 |
Acrodysostosis |
|
Brachycephaly, Frontal bossing |
ORPHA:950 |
Arima Syndrome |
|
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Gray matter heterotopia... |
OMIM:243910 |
3P25.3 Microdeletion Syndrome |
|
Brachycephaly |
ORPHA:435638 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly |
OMIM:618885 |
Marshall Syndrome |
|
Thickened calvaria, Brachycephaly, Frontal bossing |
ORPHA:560 |
Trisomy 9P |
|
Brachycephaly |
ORPHA:236 |
Warburg Micro Syndrome 3 |
|
Brachycephaly |
OMIM:614222 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Brachycephaly, Frontal bossing |
OMIM:156200 |
Beck-Fahrner Syndrome |
|
Brachycephaly |
OMIM:618798 |
Zygomycosis |
|
Atelectasis, Abnormal cranial nerve morphology, Pleural effusion, Pneumothorax, Acute infectious ... |
ORPHA:73263 |
Adenylosuccinase Deficiency |
|
Brachycephaly |
OMIM:103050 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Skull asymmetry |
OMIM:614701 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Respiratory tract... |
ORPHA:68 |
20Q11.2 Microduplication Syndrome |
|
Trigonocephaly, Brachycephaly |
ORPHA:363659 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Delayed cranial suture closure, Umbilical hernia, Decreased cervical ... |
ORPHA:226307 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:3186 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Brachycephaly |
ORPHA:2095 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Cranial asymmetry |
OMIM:163200 |
Momo Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:2563 |
Cree Impaired Intellectual Development Syndrome |
|
Brachycephaly |
OMIM:606851 |
Neonatal Marfan Syndrome |
|
Emphysema, Neonatal respiratory distress, Flexion contracture |
ORPHA:284979 |
19P13.13 Microdeletion Syndrome |
|
Dolichocephaly, Brachycephaly |
ORPHA:357001 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:300968 |
Rubinstein-Taybi Syndrome 1 |
|
Recurrent upper respiratory tract infections, Delayed cranial suture closure, Respiratory tract i... |
OMIM:180849 |
Thoracoabdominal Syndrome |
|
Anencephaly, Congenital diaphragmatic hernia, Pulmonary hypoplasia |
OMIM:313850 |
Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,... |
OMIM:614188 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Plagiocephaly |
OMIM:613355 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Abnormal lung lobation, Alveolar capillary dysplasia, Pleural effusi... |
OMIM:265380 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Scoliosis, Delayed cranial suture closure |
OMIM:618653 |
Fabry Disease |
|
Emphysema, Reduced bone mineral density, Arthritis, Respiratory insufficiency |
ORPHA:324 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
White-Sutton Syndrome |
|
Brachycephaly, Hypoplasia of the pons |
ORPHA:468678 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Recurrent pneumonia, Pleural effusion, Atelectasis |
OMIM:306400 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Cranial hyperostosis, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:309282 |
Craniofrontonasal Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Frontal bossing, Agenesis of corpus callosum |
OMIM:304110 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Brachycephaly, Abnormal lung lobation |
ORPHA:369837 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachycephaly |
OMIM:614800 |
Baller-Gerold Syndrome |
|
Brachycephaly, Frontal bossing, Brachyturricephaly |
ORPHA:1225 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Brachycephaly, Lateral ventricle dilatation, Pulmonary hypoplasia |
OMIM:263520 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Craniosynostosis, Brachycephaly, Frontal bossing |
OMIM:245600 |
1P36 Deletion Syndrome |
|
Spinal canal stenosis, Delayed cranial suture closure, Camptodactyly of finger, 11 pairs of ribs,... |
ORPHA:1606 |
Sweeney-Cox Syndrome |
|
Brachycephaly, Flat occiput |
OMIM:617746 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Hip contracture, Agenesis of corpus callosum, Knee flexion contractu... |
OMIM:606170 |
Fucosidosis |
|
Brachycephaly |
ORPHA:349 |
Noonan Syndrome With Multiple Lentigines |
|
Brachycephaly, Abnormality of the pulmonary artery |
ORPHA:500 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Brachycephaly, Agenesis of corpus callosum |
OMIM:257300 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Brachycephaly |
OMIM:212066 |
Digeorge Syndrome |
|
Recurrent pneumonia, Atelectasis, Umbilical hernia, Intervertebral disk degeneration, Recurrent s... |
OMIM:188400 |
Mowat-Wilson Syndrome |
|
Pulmonary artery sling, Anterior plagiocephaly, Agenesis of corpus callosum |
ORPHA:2152 |
Sarcoidosis |
|
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Joint swelling, Eosinophili... |
ORPHA:797 |
Warburg Micro Syndrome 2 |
|
Brachycephaly |
OMIM:614225 |
Orofaciodigital Syndrome Type 14 |
|
Open operculum, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Par... |
ORPHA:434179 |
9P13 Microdeletion Syndrome |
|
Brachycephaly |
ORPHA:324313 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Limitation of joint mobility, Umbilical hernia, Osteolysis,... |
ORPHA:285 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Turricephaly, Brachycephaly, Oligozoospermia, Stillbirth, Craniosynostosis, Frontal bossing |
ORPHA:95699 |
Relapsing Polychondritis |
|
Limitation of joint mobility, Arthritis, Atelectasis |
ORPHA:728 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Brachycephaly |
OMIM:156400 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Brachycephaly |
ORPHA:456312 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Brachycephaly |
OMIM:156610 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem |
ORPHA:444072 |
Cerebrooculonasal Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Proboscis |
OMIM:605627 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thickened calvaria, Brachycephaly |
OMIM:309583 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachycephaly, Calvarial hyperostosis |
OMIM:101800 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Proteus Syndrome |
|
Pulmonary cyst, Bronchogenic cyst, Decreased muscle mass, Abnormal lung lobation, Myofibrillar my... |
ORPHA:744 |
Hamamy Syndrome |
|
Craniosynostosis, Brachycephaly |
OMIM:611174 |
Cerebrofaciothoracic Dysplasia |
|
Brachycephaly |
ORPHA:1394 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Craniosynostosis, Brachycephaly, Recurrent sinusitis |
OMIM:213980 |
Loeys-Dietz Syndrome 5 |
|
Dolichocephaly, Brachycephaly |
OMIM:615582 |
Coffin-Siris Syndrome 12 |
|
Ridged cranial sutures, Delayed cranial suture closure, Joint hypermobility, Radioulnar synostosi... |
OMIM:619325 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Brachycephaly |
OMIM:122470 |
7Q11.23 Microduplication Syndrome |
|
Dolichocephaly, Brachycephaly, Craniosynostosis |
ORPHA:96121 |
Cartilage-Hair Hypoplasia |
|
Brachycephaly |
OMIM:250250 |
Monosomy 9P |
|
Trigonocephaly, Brachycephaly, Calvarial skull defect, Agenesis of corpus callosum |
ORPHA:261112 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:1236 |
Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Oxycephaly, Bicoronal ... |
OMIM:218600 |
Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Broad skull |
OMIM:277600 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Brachycephaly, Frontal bossing |
OMIM:616078 |
Viss Syndrome |
|
Pulmonary artery aneurysm, Hip dislocation, Umbilical hernia, Emphysema, Recurrent joint dislocat... |
OMIM:619472 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Brachycephaly, Frontal bossing |
OMIM:616728 |
Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:615273 |
Kaufman Oculocerebrofacial Syndrome |
|
Brachycephaly |
OMIM:244450 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly |
ORPHA:2062 |
Gorlin Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:377 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Kyphosis, Aspiration pneumonia, Delayed ossification of pubic rami, I... |
OMIM:216340 |
Ayme-Gripp Syndrome |
|
Camptodactyly, Radioulnar synostosis, Delayed cranial suture closure |
OMIM:601088 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachycephaly |
OMIM:601353 |
Down Syndrome |
|
Brachycephaly |
ORPHA:870 |
Cartilage-Hair Hypoplasia |
|
Brachycephaly |
ORPHA:175 |
Distal Deletion 3P |
|
Brachycephaly |
ORPHA:1620 |
Yunis-Varon Syndrome |
|
Hip dislocation, Decreased skull ossification, Wide cranial sutures, Short ribs, Absent sternal o... |
ORPHA:3472 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:521445 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal pulmonary interstitial morphology, Azoospermia, Pulmonary fibrosis, Brachycephaly |
ORPHA:2072 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Brachycephaly, Recurrent respiratory infections |
OMIM:619950 |
14Q22Q23 Microdeletion Syndrome |
|
Brachycephaly, Agenesis of corpus callosum |
ORPHA:264200 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ... |
ORPHA:261537 |
Arthrogryposis And Ectodermal Dysplasia |
|
Brachycephaly |
OMIM:601701 |
Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Broad skull |
OMIM:608328 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:2108 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly |
OMIM:608980 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia... |
ORPHA:261552 |
Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Agenesis of corpus callosum, Brachycephaly, Parietal bossing, Recurrent respiratory in... |
OMIM:264090 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:1974 |
Down Syndrome |
|
Partial anomalous pulmonary venous return, Pulmonary artery stenosis, Brachycephaly |
OMIM:190685 |
Thrombocytopenia-Absent Radius Syndrome |
|
Brachycephaly, Death in infancy |
OMIM:274000 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Brachycephaly |
OMIM:618223 |
Treacher-Collins Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:861 |
Pallister-Killian Syndrome |
|
Wide anterior fontanel, Congenital hip dislocation, Camptodactyly of 2nd-5th fingers, Umbilical h... |
OMIM:601803 |
Distal Deletion 12Q |
|
Brachycephaly, Frontal bossing |
ORPHA:96149 |
X-Linked Intellectual Disability, Snyder Type |
|
Brachycephaly |
ORPHA:3063 |
Kbg Syndrome |
|
Brachycephaly |
OMIM:148050 |
Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly |
OMIM:201180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Trigonocephaly, Brachycephaly, Craniosynostosis |
OMIM:309590 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Brachycephaly |
OMIM:616263 |
Branchioskeletogenital Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly |
ORPHA:1299 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Lateral ventricle dilatation, Abnormal lung lobation, Agenesis of corpus callosum, Brachycephaly,... |
OMIM:607872 |
Carpenter Syndrome 2 |
|
Oxycephaly, Trigonocephaly, Brachycephaly, Craniosynostosis, Frontal bossing |
OMIM:614976 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Recurrent lower respiratory tract infections, Recurrent upper respi... |
ORPHA:293987 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Small cell lung carcinoma, Cerebral atro... |
ORPHA:821 |
Roberts Syndrome |
|
Craniosynostosis, Brachycephaly |
ORPHA:3103 |
Congenital Myopathy 13 |
|
Brachycephaly |
OMIM:255995 |
Wiedemann-Rautenstrauch Syndrome |
|
Thickened calvaria, Agenesis of corpus callosum, Frontal bossing, Cranial asymmetry |
ORPHA:3455 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Brachycephaly |
OMIM:227330 |
Chime Syndrome |
|
Brachycephaly |
ORPHA:3474 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachycephaly, Prominent occiput, Frontal bossing, Turricephaly |
OMIM:612474 |
Renpenning Syndrome 1 |
|
Brachycephaly, Death in childhood |
OMIM:309500 |
Peters Plus Syndrome |
|
Brachycephaly, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery, Frontal b... |
ORPHA:709 |
Frontofacionasal Dysplasia |
|
Brachycephaly, Hypoplasia of the frontal bone |
OMIM:229400 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Brachycephaly, Frontal bossing |
OMIM:617157 |
Aspartylglucosaminuria |
|
Thickened calvaria, Brachycephaly, Recurrent respiratory infections |
OMIM:208400 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Brachycephaly, Hypoplasia of the brainstem, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dolichocephaly, Brachycephaly, Frontal bossing |
OMIM:619503 |
Elsahy-Waters Syndrome |
|
Brachycephaly |
OMIM:211380 |
X-Linked Intellectual Disability, Armfield Type |
|
Brachycephaly |
ORPHA:85276 |
Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly |
ORPHA:1519 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Brachycephaly |
OMIM:610442 |
Cornelia De Lange Syndrome |
|
Brachycephaly |
ORPHA:199 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Cloverleaf skull |
OMIM:201750 |
Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Brachycephaly, Stillbirth |
OMIM:268300 |
Primrose Syndrome |
|
Brachycephaly |
OMIM:259050 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Atrophy/Degeneration affecting the brainstem, Aspiration... |
ORPHA:99027 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Corpus callo... |
OMIM:169500 |