Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia, Diffuse cerebral atrophy, Microcephaly |
ORPHA:2898 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... |
ORPHA:46 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Prominent metopic ridge, Brachycephaly |
OMIM:275595 |
Gómez-López-Hernández Syndrome |
|
Short stature, Brachycephaly, Hydrocephalus, Turricephaly, Midface retrusion |
ORPHA:1532 |
Craniosynostosis 6 |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callosum morphology, Turricephaly... |
OMIM:616602 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Di... |
OMIM:618736 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Growth delay, Short stature, Brachycephaly |
ORPHA:2528 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Isolated Brachycephaly |
|
Midface retrusion, Brachycephaly |
ORPHA:35099 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocepha... |
ORPHA:272 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Short stature, Brachycephaly, Frontal bossing,... |
OMIM:218350 |
Aminopterin Syndrome Sine Aminopterin |
|
Intrauterine growth retardation, Megalencephaly, Short stature, Brachycephaly, Frontal bossing, U... |
OMIM:600325 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Brachycephaly, Wormian b... |
OMIM:309400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly |
OMIM:300699 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Non-Distal Trisomy 10Q |
|
Frontal bossing, Microcephaly, Short stature, Brachycephaly |
ORPHA:1695 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Turrice... |
ORPHA:171839 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:320385 |
Mental Retardation, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short stature, Brachycephaly |
ORPHA:1514 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Microcephaly, Thin calvarium, Short stature, Brachycephaly |
OMIM:122900 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:615031 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Severe postnatal growth retardation, Short stature, Brachycephaly, Se... |
OMIM:615663 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Hydrocephalus, Midface retrusion, Hypoplasi... |
OMIM:618577 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... |
OMIM:604757 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Potocki-Shaffer Syndrome |
|
Hypertension, Delayed puberty, Brachycephaly, Parietal foramina |
ORPHA:52022 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... |
OMIM:614188 |
Potocki-Shaffer Syndrome |
|
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina |
OMIM:601224 |
Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Polymicrogyria, Midface retrusion, ... |
OMIM:618774 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly |
OMIM:618859 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Alobar holoprosencephaly, Dolichocephaly, Agenesis of corpus callosum |
OMIM:615433 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Short stature, Brachycephaly, Postn... |
OMIM:300590 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Spina bifida, Midface retrusion, M... |
ORPHA:1327 |
Myopathy, Congenital, Bailey-Bloch |
|
Microcephaly, Midface retrusion, Short stature, Brachycephaly |
OMIM:255995 |
Pontocerebellar Hypoplasia, Type 3 |
|
Short stature, Brachycephaly, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the corpu... |
OMIM:608027 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:264470 |
Mental Retardation, Autosomal Dominant 26 |
|
Microcephaly, Short stature, Brachycephaly |
OMIM:615834 |
Warburg Micro Syndrome 3 |
|
Brachycephaly, Postnatal growth retardation, Polymicrogyria, Secondary microcephaly, Hypoplasia o... |
OMIM:614222 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm |
ORPHA:1455 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Microcephaly, Short stature, Brachycephaly |
ORPHA:93950 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Multifocal cerebral white matter abnormalities, Brachycephaly, Microcephaly, Hypoplasia of the co... |
ORPHA:352530 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Wormian bones, Short stature, Midface retrusion |
OMIM:613849 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Hypoplasia of the corpus callo... |
OMIM:618603 |
Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostosis, Turricephaly |
ORPHA:2145 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Temporal cortical atrophy, Short stature, Brachycephaly, Prominent metopic ridge, ... |
OMIM:618862 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Large fontanelles, Brachycephaly, Severe short stature, Delayed cranial suture clos... |
ORPHA:2511 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Thick corpus callosum, Prominent occiput, Dolichocephaly, Hypoplasi... |
OMIM:618672 |
Grant Syndrome |
|
Short stature, Large fontanelles, Brachycephaly, Wormian bones, Frontal bossing |
ORPHA:2097 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Brachycephaly, Midface retrusion, Cerebral cortical atrophy, Microcephaly |
ORPHA:1387 |
Pierpont Syndrome |
|
Microcephaly, Midface retrusion, Short stature, Brachycephaly |
OMIM:602342 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Severe short stature, Frontal... |
ORPHA:2780 |
Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Wide anterior fon... |
OMIM:601853 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Short stature, Brachycephaly, Trigonocephaly, Postnatal growth retardation, Promine... |
OMIM:613792 |
9P13 Microdeletion Syndrome |
|
Metopic synostosis, Umbilical hernia, Short stature, Brachycephaly |
ORPHA:324313 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Brachycephaly, Pulmonic stenosis, Hydrocephalus, Prominent occip... |
OMIM:220210 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Cerebral atrophy,... |
OMIM:616801 |
Pseudodiastrophic Dysplasia |
|
Brachycephaly, Rhizomelia, Severe short stature, Frontal bossing, Midface retrusion |
OMIM:264180 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Short stature, Brachycephaly |
ORPHA:314575 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Brachycephaly, Focal T2 hyperintense basal ganglia lesion, Abnormal ... |
ORPHA:70472 |
Crouzon Disease |
|
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Midface retrusion, Multiple suture c... |
ORPHA:207 |
Recombinant Chromosome 8 Syndrome |
|
Growth delay, Brachycephaly, Pulmonic stenosis, Postnatal growth retardation, Cerebral atrophy, M... |
OMIM:179613 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Intrauterine growth retardation, Large fontanelles, Brachycephaly, Wormian bones, Severe short st... |
OMIM:219150 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Primary microcephaly, Brachycephaly |
ORPHA:487825 |
Fetal Trimethadione Syndrome |
|
Midface retrusion, Intrauterine growth retardation, Microcephaly, Brachycephaly |
ORPHA:1913 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Brachycephaly, Frontal bossing, Cerebral atrophy, Midface retrusion |
OMIM:615539 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly |
OMIM:610680 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Frontal bossing, Biparietal narrow... |
ORPHA:1292 |
Mental Retardation, Autosomal Dominant 29 |
|
Brachycephaly |
OMIM:616078 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus |
ORPHA:228190 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Short stature, Brachycephaly, Abnormal cerebral white matter morphology, Midface r... |
ORPHA:261652 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Umbilical hernia, Short stature, Brachycephaly |
ORPHA:1488 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly |
OMIM:614416 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Postnatal growth retardation, Microcephaly, Brachycephaly |
OMIM:615419 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Microcephaly, Spina bifida occulta, Short stature, Brachycephaly |
OMIM:268850 |
Chopra-Amiel-Gordon Syndrome |
|
Short stature, Brachycephaly, Postnatal growth retardation, Midface retrusion, Microcephaly |
OMIM:619504 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Short stature, Brachycephaly, Holoprosencephaly, Craniosynostosis, Microcephaly |
ORPHA:2163 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Hydrocephalus, Turricephaly, Brachycephaly |
ORPHA:93262 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Brachycephaly, Trigonocephaly, Scaphocephaly, Hydrocephalus, Sagittal craniosynost... |
ORPHA:459061 |
Craniofrontonasal Dysplasia |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Hypoplasia of the corpus callosu... |
ORPHA:1520 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Lissencephaly, Intrauterine growth retardation, Microcephaly, Brachycephaly |
OMIM:618142 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Brachycephaly, Severe short stature, Midface retrusion, Agenesis of c... |
OMIM:616854 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:2978 |
Muenke Syndrome |
|
Plagiocephaly, Midface retrusion, Coronal craniosynostosis, Brachycephaly |
OMIM:602849 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... |
OMIM:612474 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus |
OMIM:617247 |
Monosomy 18P |
|
Hypertension, Short stature, Brachycephaly, Holoprosencephaly, Microcephaly |
ORPHA:1598 |
Desanto-Shinawi Syndrome |
|
Midface retrusion, Hypoplasia of the corpus callosum, Brachycephaly |
OMIM:616708 |
Cornelia De Lange Syndrome 5 |
|
Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly |
OMIM:300882 |
German Syndrome |
|
Midface retrusion, Dolichocephaly, Short stature, Brachycephaly |
ORPHA:2077 |
Chromosome 2Q37 Deletion Syndrome |
|
Midface retrusion, Arrhythmia, Short stature, Brachycephaly |
OMIM:600430 |
Laurence-Moon Syndrome |
|
Short stature, Brachycephaly |
ORPHA:2377 |
2Q32Q33 Microdeletion Syndrome |
|
Microcephaly, Growth delay, Short stature, Brachycephaly |
ORPHA:251019 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Hepatospleno... |
OMIM:607330 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Short stature, Brachycephaly |
OMIM:109120 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Microcephaly, Short stature, Brachycephaly |
OMIM:309541 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:601612 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
Muenke Syndrome |
|
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly |
ORPHA:53271 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Short stature, Brachycephaly, Midface retrusion, Umbilical hernia |
ORPHA:369891 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Abnormal cortical gyration, Large fontanelles, Brachycephaly, Pachygyria, Macrogyri... |
ORPHA:2211 |
Gorlin Syndrome |
|
Frontal bossing, Cerebral calcification, Hydrocephalus, Brachycephaly |
ORPHA:377 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Postnatal growth retardation, Short stature, Brachycephaly |
OMIM:614800 |
Al Kaissi Syndrome |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Postnatal growth retardation, Hypo... |
OMIM:617694 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Craniosynostosis, Frontal bossing, Turricephaly, Agenesis of corpus callosum |
OMIM:613174 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Growth delay, Microcephaly, Brachycephaly |
ORPHA:85290 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Frontal bossing, Coronal craniosynostosis, Agenes... |
ORPHA:228390 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Hypoplasia of the olfactory bulb, Large fontanelles, Brachycephaly, Anterior pituita... |
ORPHA:1827 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Brachycephaly, Hydrocephalus, Decreased response to growth hormone stimulation tes... |
OMIM:609757 |
Carpenter Syndrome 1 |
|
Short stature, Brachycephaly, Pulmonic stenosis, Aplasia/Hypoplasia of the corpus callosum, Cereb... |
OMIM:201000 |
Otofacioosseous-Gonadal Syndrome |
|
Frontal bossing, Wormian bones, Short stature, Brachycephaly |
OMIM:601976 |
Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Disproportionate short-limb short ... |
OMIM:618644 |
Xq28 (MECP2) duplication |
|
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
DECIPHER:45 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
OMIM:300958 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Cerebral cortical hemiatrophy, Growth delay, Brachycephaly, Aortic regurgitation, C... |
ORPHA:96147 |
8Q12 Microduplication Syndrome |
|
Brachycephaly |
ORPHA:228399 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Umbilical hernia, Short stature, Brachycephaly |
ORPHA:2095 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
Cdags Syndrome |
|
Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closure, Coronal cranio... |
OMIM:603116 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
2Q23.1 Microdeletion Syndrome |
|
Microcephaly, Growth delay, Short stature, Brachycephaly |
ORPHA:228402 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Agenesis of corpus callosum, Brachycephaly, Frontal bossing, Hydrocephalus, Midfa... |
OMIM:612582 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Aortic regurgitation, Crani... |
ORPHA:254346 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Flat occiput, Intrauterine growth retardation, Short stature, Brachycephaly, Aplasia/Hypoplasia o... |
ORPHA:505237 |
Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, Wide anterior fontanel, Short stature, Brachycephaly |
OMIM:239710 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Intrauterine growth retardation, Short stature, Brachycephaly, Hypoplasia of the co... |
OMIM:617452 |
Acrofrontofacionasal Dysostosis |
|
Midface retrusion, Cerebral cortical atrophy, Short stature, Brachycephaly |
ORPHA:1784 |
Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism, Brachycephaly |
OMIM:603671 |
Larsen-Like Syndrome |
|
Frontal bossing, Wide anterior fontanel, Short stature, Brachycephaly |
OMIM:608545 |
Pde4D Haploinsufficiency Syndrome |
|
Thickened calvaria, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Postnatal gr... |
ORPHA:439822 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:616789 |
Alagille Syndrome |
|
Hypertension, Intrauterine growth retardation, Brachycephaly, Telangiectasia of the skin, Frontal... |
ORPHA:52 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Brachycephaly, F... |
OMIM:617296 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Brachycephaly, Anterior plagiocephaly, Abnormality of cranial sutures, Frontal bossing, Wide ante... |
ORPHA:163649 |
Smith-Magenis Syndrome |
|
Midface retrusion, Short stature, Brachycephaly |
OMIM:182290 |
Hallermann-Streiff Syndrome |
|
Telangiectasia, Hypertension, Brachycephaly, Pulmonary arterial hypertension, Proportionate short... |
OMIM:234100 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Agenesis of corpus callosum, Brachycephaly |
OMIM:218000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Microcephaly, Brachycephaly |
OMIM:608776 |
White-Sutton Syndrome |
|
Short stature, Brachycephaly, Cerebral atrophy, Midface retrusion, Hypoplasia of the corpus callo... |
OMIM:616364 |
Distal Monosomy 10Q |
|
Short stature, Brachycephaly, Craniosynostosis, Frontal bossing, Cavum septum pellucidum, Postnat... |
ORPHA:96148 |
Raine Syndrome |
|
Plagiocephaly, Brachyturricephaly, Large fontanelles, Brachycephaly, Short stature, Neonatal deat... |
OMIM:259775 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Wormian bones, Micro... |
OMIM:616897 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, Microcephaly, Brachycephaly |
ORPHA:3306 |
Lujan-Fryns Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Brachycephaly |
ORPHA:776 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Midface retrusion, Frontal bossing, Brachycephaly |
OMIM:618430 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Polymicrogyria, Brachycephaly |
OMIM:612379 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly |
OMIM:615761 |
16P13.2 Microdeletion Syndrome |
|
Plagiocephaly, Dilated third ventricle, Short stature, Brachycephaly, Cerebral white matter atrop... |
ORPHA:500055 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:608688 |
Frontofacionasal Dysplasia |
|
Midface retrusion, Hypoplasia of the corpus callosum, Short stature, Brachycephaly |
ORPHA:1791 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Growth delay, Short stature, Brachy... |
ORPHA:500 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Coronal craniosynostosis, ... |
OMIM:207410 |
Dysostosis, Stanescu Type |
|
Short stature, Brachycephaly, Wormian bones, Cerebral calcification, Midface retrusion, Persisten... |
ORPHA:1798 |
Apert Syndrome |
|
Hypertension, Brachyturricephaly, Cloverleaf skull, Large fontanelles, Acrobrachycephaly, Absent ... |
ORPHA:87 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:236410 |
Warburg Micro Syndrome 2 |
|
Brachycephaly, Postnatal growth retardation, Polymicrogyria, Secondary microcephaly, Hypoplasia o... |
OMIM:614225 |
Trisomy 20P |
|
Plagiocephaly, Brachycephaly, Frontal bossing, Spina bifida, Dolichocephaly, Umbilical hernia |
ORPHA:261318 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Short stature, Brachycephaly |
ORPHA:1173 |
Lig4 Syndrome |
|
Growth delay, Brachycephaly, Telangiectasia of the skin, Biparietal narrowing, Microcephaly |
ORPHA:99812 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Brachycephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the corpus callosum, Co... |
OMIM:612513 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly,... |
OMIM:101800 |
Mesomelic Dysplasia, Nievergelt Type |
|
Mesomelic short stature, Dolichocephaly, Brachycephaly |
ORPHA:2633 |
Adenylosuccinase Deficiency |
|
Growth delay, Brachycephaly, Cerebral atrophy, Prominent metopic ridge, Microcephaly |
OMIM:103050 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Primary microcephaly, Simplified gyral pattern, Brachycephaly |
OMIM:618828 |
Smith-Magenis Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Aplasia/Hypoplasia of the corpus callosum, Midface... |
ORPHA:819 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Short stature, Brachycephaly, Trigonocephaly, Pulmonic stenosis, Prominent metopic r... |
OMIM:619148 |
Martsolf Syndrome 1 |
|
Short stature, Brachycephaly, Cardiomyopathy, Cardiac arrest, Congestive heart failure, Microcephaly |
OMIM:212720 |
Pfeiffer Syndrome Type 1 |
|
Midface retrusion, Bicoronal synostosis, Brachycephaly, Aqueductal stenosis |
ORPHA:93258 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Microcephaly, Brachycephaly |
OMIM:263210 |
Distal Monosomy 3P |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Umbilical hernia, Microcephaly |
ORPHA:1620 |
20Q11.2 Microduplication Syndrome |
|
Severe intrauterine growth retardation, Growth delay, Brachycephaly, Trigonocephaly, Prominent me... |
ORPHA:363659 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Short stature, Brachycephaly, Frontal bossing, Coronal craniosynosto... |
OMIM:304110 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microcephaly, Short stature, Brachycephaly |
OMIM:301041 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Brachyturricephaly, Cardiomyopathy, Mitral regurgitation |
OMIM:300280 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Hypoplasia of the corpus callosum, Cerebral atrophy, Brachycephaly |
OMIM:618797 |
Cleidocranial Dysplasia |
|
Large fontanelles, Brachycephaly, Short stature, Wormian bones, Frontal bossing, Midface retrusio... |
ORPHA:1452 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Premature anterior fontanel closure, Dysgenesis of the hippocampus, Short stature,... |
OMIM:619435 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Growth delay, Microcephaly, Brachycephaly |
ORPHA:2707 |
Crouzon Syndrome |
|
Brachycephaly, Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal c... |
OMIM:123500 |
De Barsy Syndrome |
|
Intrauterine growth retardation, Short stature, Delayed closure of the anterior fontanelle, Brach... |
ORPHA:2962 |
Craniosynostosis-Fibular Aplasia Syndrome |
|
Large fontanelles, Brachycephaly, Wormian bones, Midface retrusion, Microcephaly |
ORPHA:1533 |
Hunter-Macdonald Syndrome |
|
Hypertension, Midface retrusion, Mitral regurgitation, Brachycephaly, Large fontanelles, Short st... |
OMIM:611962 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Cranial asymmetry, Delayed closure of the anterior fontanelle, Short stature, Scaph... |
OMIM:614886 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Lobar holoprosencephaly, Short stature, Brachycephaly, Skull asymmetry, Microcephaly |
OMIM:614701 |
Frontonasal Dysplasia 3 |
|
Brachycephaly |
OMIM:613456 |
Antley-Bixler Syndrome |
|
Brachycephaly, Craniosynostosis, Frontal bossing, Turricephaly, Delayed cranial suture closure |
ORPHA:83 |
Aymé-Gripp Syndrome |
|
Plagiocephaly, Pericarditis, Large fontanelles, Brachycephaly, Short stature, Craniosynostosis, P... |
ORPHA:1272 |
Apert Syndrome |
|
Brachyturricephaly, Midface retrusion, Large fontanelles, Megalencephaly, Acrobrachycephaly, Abse... |
OMIM:101200 |
Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly |
OMIM:611961 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Cerebral hypoplasia, Postnatal gro... |
OMIM:257300 |
Cree Mental Retardation Syndrome |
|
Large fontanelles, Brachycephaly |
OMIM:606851 |
Down Syndrome |
|
Abnormality of the fontanelles or cranial sutures, Umbilical hernia, Brachycephaly |
ORPHA:870 |
Acrodysostosis |
|
Midface retrusion, Short stature, Brachycephaly |
ORPHA:950 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Cerebral atrophy, Brachycephaly |
OMIM:615398 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Cerebral white matter atrophy, Brachycephaly, Pulmonic stenosis |
ORPHA:435638 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Hypoplasia of the corpus callosum, Short stature, Brachycephaly |
ORPHA:364028 |
Baller-Gerold Syndrome |
|
Brachyturricephaly, Intrauterine growth retardation, Growth delay, Short stature, Large fontanell... |
ORPHA:1225 |
2P15P16.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Growth delay, Mitral regurgitation, Brachycephaly, Aortic regurg... |
ORPHA:261349 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency |
OMIM:110100 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Brachycephaly, Midface retrusion, Hypoplasia of the corpus callosum, Cerebral cort... |
ORPHA:1394 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Craniosynostosis, Proboscis, Frontal bossing, Hydrocephalus, Hypoplasia of the cor... |
OMIM:605627 |
Angelman Syndrome |
|
Flat occiput, Secondary microcephaly, Cerebral cortical atrophy, Brachycephaly |
OMIM:105830 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... |
ORPHA:85199 |
Beck-Fahrner Syndrome |
|
Periventricular leukomalacia, Microcephaly, Brachycephaly |
OMIM:618798 |
Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Midface retrusion, Wide anterior fontanel, Brachycephaly |
OMIM:617746 |
49,Xxxxy Syndrome |
|
Arrhinencephaly, Short stature, Brachycephaly, Holoprosencephaly, Pulmonary embolism, Hypoplasia ... |
ORPHA:96264 |
Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Midface retrusion, Craniosynostosis, Brachycephaly |
ORPHA:1790 |
Trisomy 9P |
|
Microcephaly, Brachycephaly |
ORPHA:236 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Plagiocephaly, Short stature, Delayed closure of the anterior fontanelle, Brachycephaly, Pulmonic... |
OMIM:610759 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Telangiectasia, Abnormal parietal bone morphology, Growth delay, Brachycephaly |
ORPHA:247262 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, Partial agenesis of the corpus callosum, Large fontanelles, Brachycephaly, Frontal... |
OMIM:619512 |
Contractural Arachnodactyly, Congenital |
|
Mitral regurgitation, Brachycephaly, Frontal bossing, Scaphocephaly, Dolichocephaly |
OMIM:121050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Midface retrusion, Microcephaly, Brachycephaly |
OMIM:300260 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst, Short stature, Brachycephaly, Abnormal cerebral white matter morphology, Microcephaly |
OMIM:618885 |
Marshall Syndrome |
|
Thickened calvaria, Short stature, Brachycephaly, Frontal bossing, Cerebral calcification |
ORPHA:560 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Thickened calvaria, Mitral regurgitation, Brachycephaly, Aortic regu... |
ORPHA:309282 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Plagiocephaly, Telangiectasia, Brachycephaly, Epistaxis, Prominent metopic ridge, Abnormal perive... |
ORPHA:495818 |
Kohlschutter-Tonz Syndrome-Like |
|
Intrauterine growth retardation, Midface retrusion, Brachycephaly, Dilation of lateral ventricles... |
OMIM:619229 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology, Brachycephaly |
ORPHA:404440 |
Adnp Syndrome |
|
Plagiocephaly, Short stature, Brachycephaly, Trigonocephaly, Focal white matter lesions, Cerebral... |
ORPHA:404448 |
Weill-Marchesani Syndrome 2 |
|
Mitral regurgitation, Brachycephaly, Short stature, Proportionate short stature, Pulmonic stenosi... |
OMIM:608328 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Frontal bossing, Short stature, Large fontanelles, Brachycephaly |
OMIM:257850 |
Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Brachycephaly, Abnormal corpus callosum morphology, Cerebral atrophy, Midface retr... |
OMIM:618268 |
Cerebrooculonasal Syndrome |
|
Brachycephaly |
ORPHA:66625 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Brachycephaly |
OMIM:610968 |
White-Sutton Syndrome |
|
Short stature, Brachycephaly, Subcortical cerebral atrophy, Midface retrusion, Hypoplasia of the ... |
ORPHA:468678 |
Kleefstra Syndrome |
|
Short stature, Brachycephaly, Cerebral cortical atrophy, Arrhythmia, Agenesis of corpus callosum,... |
ORPHA:261494 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Weill-Marchesani Syndrome 1 |
|
Mitral regurgitation, Brachycephaly, Short stature, Proportionate short stature, Pulmonic stenosi... |
OMIM:277600 |
Kleefstra Syndrome 1 |
|
Midface retrusion, Microcephaly, Brachycephaly |
OMIM:610253 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Thickened calvaria, Disproportionate short-trunk short stature, Brachycephaly |
OMIM:304950 |
Momo Syndrome |
|
Frontal bossing, Short stature, Brachycephaly |
ORPHA:2563 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Craniosynostosis, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Dol... |
OMIM:182212 |
19P13.13 Microdeletion Syndrome |
|
Hypoplasia of the frontal lobes, Dolichocephaly, Corpus callosum atrophy, Brachycephaly |
ORPHA:357001 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly |
OMIM:212066 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Hypertension, Sclerotic cranial sutures, Brachycephaly |
ORPHA:371428 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis, Delayed cranial suture closure |
ORPHA:794 |
Fontaine Progeroid Syndrome |
|
Intrauterine growth retardation, Short stature, Brachycephaly, Neonatal death, Pulmonary arterial... |
OMIM:612289 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Short stature, Brachycephaly, Progressive microcephaly, Midface retrusion, Delayed puberty, Micro... |
OMIM:616263 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Umbilical hernia, Large fontanelles, Brachycephaly |
OMIM:601776 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
OMIM:156610 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch |
ORPHA:2248 |
7Q11.23 Microduplication Syndrome |
|
Growth delay, Short stature, Brachycephaly, Craniosynostosis, Simplified gyral pattern, Hydroceph... |
ORPHA:96121 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Brachyturricephaly |
OMIM:607597 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Delayed closure of the anterior fontanelle, Brachycephaly, Frontal bossing, Wide c... |
OMIM:259600 |
Duplication Of The Pituitary Gland |
|
Brachyturricephaly, Short stature, Abnormal hypothalamus morphology, Abnormality of the pituitary... |
ORPHA:314621 |
Pfeiffer Syndrome |
|
Coronal craniosynostosis, Brachyturricephaly, Hydrocephalus, Cloverleaf skull |
OMIM:101600 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short stature, Brachycephaly, Rhizomelia, Craniosynostosis, Frontal bossing, Hydrocephalus, Midfa... |
OMIM:245600 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Cerebral white matter hypoplasia, Short stature, Brachycephaly, Frontal bossing, Hypoplasia of th... |
OMIM:616728 |
Momo Syndrome |
|
Frontal bossing, Brachycephaly |
OMIM:157980 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Short stature, Brachycephaly |
OMIM:300968 |
Loeys-Dietz Syndrome 5 |
|
Growth delay, Short stature, Mitral regurgitation, Brachycephaly, Midface retrusion, Dolichocephaly |
OMIM:615582 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short stature, Brachycephaly, Pulmonic ste... |
OMIM:618223 |
Down Syndrome |
|
Short stature, Brachycephaly |
OMIM:190685 |
Cartilage-Hair Hypoplasia |
|
Absent pubertal growth spurt, Neonatal short-limb short stature, Brachycephaly |
OMIM:250250 |
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Growth delay, Brachycephaly |
OMIM:601353 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Mild postnatal growth retardation, Secondary microcephaly, Delayed puberty, Brachycephaly |
ORPHA:456312 |
Cartilage-Hair Hypoplasia |
|
Brachycephaly, Rhizomelia, Disproportionate short-limb short stature, Cardiomyopathy, Heart block... |
ORPHA:175 |
Hamamy Syndrome |
|
Craniosynostosis, Mitral regurgitation, Brachycephaly |
OMIM:611174 |
Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Short stature, Brachycephaly |
ORPHA:2673 |
Ayme-Gripp Syndrome |
|
Pericarditis, Short stature, Brachycephaly, Craniofacial asymmetry, Delayed cranial suture closur... |
OMIM:601088 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypertension, Elevated circulating follicle stimulating hormone level, Brachycephaly, Craniosynos... |
ORPHA:95699 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Severe short stature, Brachycephaly |
OMIM:156400 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
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Short stature, Brachycephaly, Craniosynostosis, Postnatal growth retardation, Decreased response ... |
OMIM:213980 |
Alg9-Cdg |
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Brachycephaly, Rhizomelia, Tricuspid regurgitation, Frontal bossing, Wide anterior fontanel, Prog... |
ORPHA:79328 |
Thrombocytopenia-Absent Radius Syndrome |
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Cavum septum pellucidum, Spina bifida, Short stature, Brachycephaly |
OMIM:274000 |
Hallermann-Streiff Syndrome |
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Brachycephaly, Proportionate short stature, Frontal bossing, Abnormality of the fontanelles or cr... |
ORPHA:2108 |
Osteopetrosis With Renal Tubular Acidosis |
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Plagiocephaly, Thickened calvaria, Short stature, Brachycephaly, Pulmonary arterial hypertension,... |
ORPHA:2785 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Intrauterine growth retardation, Short stature, Brachycephaly, Wormian bones, Midface retrusion, ... |
OMIM:211910 |
Turnpenny-Fry Syndrome |
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Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Aortic regurgitation, Frontal boss... |
OMIM:618371 |
Arthrogryposis And Ectodermal Dysplasia |
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Microcephaly, Short stature, Brachycephaly |
OMIM:601701 |
Frank-Ter Haar Syndrome |
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Flat occiput, Growth delay, Brachycephaly, Wormian bones, Wide anterior fontanel, Delayed cranial... |
OMIM:249420 |
Aromatase Deficiency |
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Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Large posterior fontanelle, Decreased calvarial ossification, Brachycephaly, Neonatal death, Fron... |
OMIM:617925 |
Treacher-Collins Syndrome |
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Branchial fistula, Midface retrusion, Frontal bossing, Brachycephaly |
ORPHA:861 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
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Plagiocephaly, Cerebral atrophy, Frontal bossing, Brachycephaly |
OMIM:280000 |
Kaufman Oculocerebrofacial Syndrome |
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Microcephaly, Hypoplasia of the corpus callosum, Short stature, Brachycephaly |
OMIM:244450 |
Osteogenesis Imperfecta |
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Cerebral hemorrhage, Intrauterine growth retardation, Growth delay, Large fontanelles, Brachyceph... |
ORPHA:666 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Prominent metopic ridge, Microcephaly, Brachycephaly |
ORPHA:521445 |
48,Xxxy Syndrome |
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Pulmonary embolism, Brachycephaly |
ORPHA:96263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Thickened calvaria, Short stature, Brachycephaly |
OMIM:309583 |
Branchioskeletogenital Syndrome |
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Thickened calvaria, Brachycephaly, Craniosynostosis, Umbilical hernia, Microcephaly |
ORPHA:1299 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Flat occiput, Brachyturricephaly, Hypoplastic olfactory lobes, Widely patent fontanelles and sutu... |
OMIM:214100 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Frontal bossing, Microcephaly, Brachycephaly |
ORPHA:1236 |
Peters Plus Syndrome |
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Intrauterine growth retardation, Short stature, Brachycephaly, Rhizomelia, Disproportionate short... |
ORPHA:709 |
Fucosidosis |
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Brachycephaly |
ORPHA:349 |
Carpenter Syndrome 2 |
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Brachycephaly, Trigonocephaly, Craniosynostosis, Oxycephaly, Frontal bossing, Midface retrusion, ... |
OMIM:614976 |
Saethre-Chotzen Syndrome |
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Plagiocephaly, Short stature, Brachycephaly, Skull asymmetry, Oxycephaly, Parietal foramina, Coro... |
OMIM:101400 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
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Brachycephaly |
ORPHA:2988 |
Ring Chromosome 7 Syndrome |
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Plagiocephaly, Severe intrauterine growth retardation, Short stature, Brachycephaly, Holoprosence... |
ORPHA:1449 |
Doors Syndrome |
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Arrhinencephaly, Sirenomelia, Brachycephaly, Anterior plagiocephaly, Frontal bossing, Polymicrogy... |
ORPHA:79500 |
Distal Monosomy 12Q |
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Growth delay, Short stature, Brachycephaly, Frontal bossing, Pituitary adenoma, Wide anterior fon... |
ORPHA:96149 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Restrictive cardiomyopathy, Craniosynostosis, Brachycephaly |
ORPHA:369837 |
Baller-Gerold Syndrome |
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Brachyturricephaly, Bicoronal synostosis, Short stature, Hydrocephalus, Polymicrogyria, Coronal c... |
OMIM:218600 |
Coffin-Siris Syndrome 1 |
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Plagiocephaly, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short st... |
OMIM:135900 |
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies |
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Brachycephaly |
OMIM:600159 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... |
ORPHA:572333 |
Cornelia De Lange Syndrome 1 |
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Microcephaly, Intrauterine growth retardation, Short stature, Brachycephaly |
OMIM:122470 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
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Brachycephaly |
OMIM:142625 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Growth delay, Brachycephaly, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, H... |
ORPHA:2072 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Dilation of lateral ventricles, Pachygyria, Tricuspid regurgitation, Brachycephaly |
OMIM:263520 |
Pfeiffer Syndrome Type 3 |
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Brachyturricephaly, Midface retrusion, Aqueductal stenosis |
ORPHA:93260 |
X-Linked Intellectual Disability, Snyder Type |
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Cerebral edema, Megalencephaly, Short stature, Brachycephaly |
ORPHA:3063 |
Roberts Syndrome |
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Severe intrauterine growth retardation, Brachycephaly, Craniosynostosis, Postnatal growth retarda... |
ORPHA:3103 |
14Q22Q23 Microdeletion Syndrome |
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Anterior pituitary hypoplasia, Agenesis of corpus callosum, Short stature, Brachycephaly |
ORPHA:264200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Short stature, Brachycephaly, Trigonocephaly, Craniosynostosis, Cerebral atrophy, Hypoplasia of t... |
OMIM:309590 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Mitral regurgitation, Brachycephaly, Short stature, Tricuspid regurgitation, Frontal bossing, Pos... |
OMIM:619127 |
Specc1L-Related Hypertelorism Syndrome |
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Arrhythmia, Umbilical hernia, Brachycephaly |
ORPHA:1519 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Dilated cardiomyopathy, Noncompaction cardiomyopathy, Growth delay, Brachycephaly, Delayed closur... |
OMIM:607872 |
Monosomy 9P |
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Brachycephaly, Trigonocephaly, Calvarial skull defect, Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Frontal bossing, Short stature, Brachycephaly |
ORPHA:1974 |
Progressive Non-Infectious Anterior Vertebral Fusion |
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Brachycephaly |
ORPHA:2062 |
X-Linked Intellectual Disability, Armfield Type |
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Midface retrusion, Cerebral cortical atrophy, Short stature, Brachycephaly |
ORPHA:85276 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Brachycephaly, Small basal ganglia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcep... |
OMIM:610442 |
1P36 Deletion Syndrome |
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Dilated cardiomyopathy, Telangiectasia, Midface retrusion, Short stature, Brachycephaly, Frontal ... |
ORPHA:1606 |
Acrofrontofacionasal Dysostosis 1 |
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Short stature, Brachycephaly |
OMIM:201180 |
Common Variable Immunodeficiency |
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Vasculitis, Brachycephaly |
ORPHA:1572 |
Congenital Disorder Of Deglycosylation 1 |
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Microcephaly, Brachycephaly |
OMIM:615273 |
Frontofacionasal Dysplasia |
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Midface retrusion, Hypoplasia of the frontal bone, Brachycephaly |
OMIM:229400 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Proportionate short stature, Brachycephaly |
OMIM:227330 |
Aspartylglucosaminuria |
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Thickened calvaria, Short stature, Mitral regurgitation, Brachycephaly, Cerebral atrophy, Microce... |
OMIM:208400 |
Chime Syndrome |
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Cerebral cortical atrophy, Brachycephaly |
ORPHA:3474 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Brachycephaly |
OMIM:608980 |
Renpenning Syndrome 1 |
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Microcephaly, Cerebral atrophy, Short stature, Brachycephaly |
OMIM:309500 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Cloverleaf skull, Brachycephaly, Craniosynostosis, Frontal bossing, Midface retrusion, Microcephaly |
OMIM:201750 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Pulmonary insufficiency, Brachycephaly, Neonatal death, Pulmonary arterial hypertension, Right-to... |
OMIM:265380 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Brachyturricephaly, Hemiballismus |
ORPHA:522077 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Brachyturricephaly, Intrauterine growth retardation, Postnatal growth retardation, Diffuse cerebr... |
ORPHA:83617 |
Microphthalmia, Syndromic 6 |
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Plagiocephaly, Brachycephaly, Abnormal cerebral white matter morphology, Aplasia/Hypoplasia of th... |
OMIM:607932 |
Roberts-Sc Phocomelia Syndrome |
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Severe intrauterine growth retardation, Brachycephaly, Craniosynostosis, Stillbirth, Postnatal gr... |
OMIM:268300 |
Cornelia De Lange Syndrome |
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Intrauterine growth retardation, Severe postnatal growth retardation, Short stature, Brachycephal... |
ORPHA:199 |
Elsahy-Waters Syndrome |
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Midface retrusion, Brachycephaly |
OMIM:211380 |
Viss Syndrome |
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Epidural hemorrhage, Short stature, Brachycephaly, Pulmonary arterial hypertension, Frontal bossi... |
OMIM:619472 |
Turner Syndrome |
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Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency |
ORPHA:881 |
Mosaic Monosomy X |
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Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency |
ORPHA:99228 |
Monosomy X |
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Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency |
ORPHA:99413 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Abnormal cortical gyration, Short stature, Brachycephaly, Cardiomyopathy, Hypoplasia of the corpu... |
ORPHA:480880 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Brachycephaly, Decreased response to growth hormone stimulation test, Frontal bossing, Small pitu... |
OMIM:619503 |
Primrose Syndrome |
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Short stature, Brachycephaly, Cerebral calcification, Midface retrusion, Hypoplasia of the corpus... |
OMIM:259050 |