| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Dysphagia, Facial palsy, Nasal regurgitation, Velopharyngeal insufficiency |
OMIM:617732 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Cranial nerve compression, Malnutrition, Schwannoma, Abnormal glossoph... |
ORPHA:221098 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
| Atelosteogenesis Type I |
|
Platyspondyly, Laryngotracheal stenosis, Joint dislocation, Short femur, Absent or minimally ossi... |
ORPHA:1190 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... |
OMIM:610168 |
| Verheij Syndrome |
|
Short 5th finger, Retrognathia, Branchial cyst, Long philtrum, Clinodactyly, Feeding difficulties... |
OMIM:615583 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Feeding difficulties, Micrognathia, Congenital diaphragmatic hernia, Crypt... |
OMIM:609029 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Encephalocele, N... |
OMIM:108720 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Micrognathia, Abnormal mitral valve morphology, Ventric... |
ORPHA:7 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... |
OMIM:220210 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Webbed neck, Narrow palate, Cleft lip, Decreased response to growth h... |
OMIM:618223 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Death in childhood, Hypoplasia of the thymus |
OMIM:200900 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Ulnar deviation of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia of th... |
ORPHA:1358 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, High palate, Cleft lip, K... |
OMIM:619110 |
| Wolman Disease |
|
Vomiting, Adrenal calcification, Acute hepatic failure, Splenomegaly, Death in infancy, Abdominal... |
OMIM:620151 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Tooth malposition, Feeding difficulties, Micrognathia, Congenital diaphrag... |
ORPHA:96170 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Laryngeal cartilage... |
ORPHA:56304 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Ankyloglossia, Micrognathia, Aplasia of... |
OMIM:620186 |
| Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
| Diastrophic Dysplasia |
|
Laryngotracheal stenosis, Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vert... |
OMIM:222600 |
| Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting, High pala... |
OMIM:620045 |
| Loeys-Dietz Syndrome 1 |
|
Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Arachno... |
OMIM:609192 |
| Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Bicuspid aortic valve, Feedi... |
OMIM:617137 |
| Peters Plus Syndrome |
|
Toe syndactyly, Micrognathia, Cryptorchidism, Short neck, Feeding difficulties in infancy, Anal a... |
ORPHA:709 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,... |
OMIM:253010 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... |
ORPHA:199306 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trab... |
ORPHA:2780 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Webbed neck, Short distal phalanx of finger, Micrognathia, Abnormal aortic m... |
ORPHA:2516 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Monosomy 22 |
|
Contractures of the large joints, Retrognathia, Long philtrum, Finger syndactyly, Schwannoma, Hep... |
ORPHA:96123 |
| Trisomy 17P |
|
Aortic valve stenosis, Micrognathia, Narrow mouth, Low posterior hairline, Short neck, High palat... |
ORPHA:261290 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect... |
OMIM:601808 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Retrognathia, Short thumb, Feeding difficulties, Micrognathia, Cryptorchidism, Trun... |
OMIM:617516 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tetralogy of ... |
ORPHA:3426 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... |
ORPHA:324410 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, High palate, Rectovaginal f... |
ORPHA:861 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Broad jaw, Broad thumb, Umbilical hernia, Feeding difficulties, Subglottic... |
OMIM:614501 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte... |
ORPHA:401935 |
| Anauxetic Dysplasia 1 |
|
Aortic valve stenosis, Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypopla... |
OMIM:607095 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Broad neck, Goiter, Abnormal skeletal muscle morphology, Tracheoesophag... |
ORPHA:142 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Aortic valve stenosis, Prominent scalp veins, Subluxation of the s... |
ORPHA:536471 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Retrognathia, Long philtrum, Cleft upper lip, Cryptorchidism, Low posterio... |
OMIM:243310 |
| Bilateral Polymicrogyria |
|
Difficulty in tongue movements, Central hypothyroidism, Pseudobulbar paralysis, Micrognathia, Fac... |
ORPHA:268940 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... |
OMIM:308050 |
| Myhre Syndrome |
|
Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, Overlap... |
OMIM:139210 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... |
OMIM:271510 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Dental crowding, Tricuspid regurgitation, Abnormal heart valve morphology,... |
ORPHA:228410 |
| Monosomy 18Q |
|
Aortic valve stenosis, Open mouth, Mitral regurgitation, Arachnodactyly, High palate, Patent duct... |
ORPHA:1600 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Abnormal aryepiglottic fold morphology, ... |
OMIM:268305 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Feeding difficult... |
ORPHA:141152 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Cryptorchidism, Ventricular septal defec... |
OMIM:146510 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defec... |
ORPHA:453499 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Congen... |
OMIM:154400 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Gastroesophageal reflux, Interphalangeal joint contracture of finge... |
OMIM:151200 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Hypoplasia of the musculature, Short distal phalanx of the thumb, ... |
ORPHA:1826 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... |
ORPHA:352665 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Feeding difficultie... |
ORPHA:2008 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Abnormal right ventricular function, Bic... |
ORPHA:3427 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Micrognathia, Velopharyngeal insufficiency |
OMIM:608363 |
| Orofaciodigital Syndrome Type 14 |
|
Webbed neck, Microretrognathia, Postaxial foot polydactyly, Broad hallux, Bilateral cryptorchidis... |
ORPHA:434179 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm, Dextrotranspo... |
OMIM:619657 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Limited neck flexion, Cerebral vasculitis, Goiter, Leukocytosis, Nausea and vomiting, Hashimoto t... |
ORPHA:83601 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Micrognathia, ... |
ORPHA:3047 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated... |
ORPHA:95716 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Macroglossia, Feeding diffi... |
ORPHA:95713 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Skeletal muscle atrophy, Testicular torsion, Abnormality of primary teeth,... |
ORPHA:75496 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Ankle flexion contracture, Gastroesophageal reflux, Dental crowding, Branchial cyst, Finger synda... |
ORPHA:435938 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Chronic di... |
OMIM:242700 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Optic atrophy, Cleft palate |
OMIM:618768 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... |
OMIM:208050 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Hyp... |
ORPHA:93357 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Feeding difficulties, Ventric... |
ORPHA:508498 |
| Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, V... |
ORPHA:210122 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Micrognathia, Ventricular septal... |
ORPHA:444077 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... |
OMIM:201000 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... |
ORPHA:319487 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver function, Decrease... |
OMIM:608104 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... |
ORPHA:226313 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Mitral regurgitat... |
OMIM:143095 |
| 22Q11.2 Deletion Syndrome |
|
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Arachnodact... |
ORPHA:567 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Optic disc coloboma, Anteriorly placed a... |
OMIM:615948 |
| Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Abnormality of the dentition, Velopharyngeal insufficiency, E... |
OMIM:182290 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... |
ORPHA:261330 |
| Cohen Syndrome |
|
Genu valgum, Micrognathia, Open mouth, Mitral valve prolapse, Feeding difficulties in infancy, Ne... |
OMIM:216550 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dys... |
ORPHA:99772 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Bifid uvula, Abnormality of the dentition, Gastroesophageal reflux, Long philtrum, Micrognathia, ... |
ORPHA:576283 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, Um... |
ORPHA:90673 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent... |
OMIM:608328 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Congenital hypothyroidism, Tented upper lip vermilion, Vertebrobasilar dol... |
ORPHA:521445 |
| Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Vomiting, Abdominal distention |
ORPHA:313906 |
| Carey-Fineman-Ziter Syndrome 2 |
|
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Long philtrum, Downturned cor... |
OMIM:619941 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Clinodactyly, Esophagitis, Ventricular septal defect, Feeding diff... |
ORPHA:1199 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Cryptorchidism, Chronic constipation, Broad philtrum, Abdominal ... |
ORPHA:3010 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Adrenal cortical sclerosis, Abnormal pelvic girdle bone morphology, Growth arrest ... |
OMIM:102700 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Incr... |
ORPHA:90674 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ... |
ORPHA:97290 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Dysphagia, Cleft palate |
OMIM:201550 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... |
ORPHA:226307 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Laryngeal stenosis, Metaphyseal widening, Narrow pelv... |
OMIM:187760 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Abdominal distention, Pulmon... |
OMIM:235255 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Slender finger, Small hypothenar eminence, Cutaneous syndactyly... |
ORPHA:2872 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d... |
ORPHA:955 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Microretrognathia, Vascular dilatation, Postaxial hand polydactyly, Patent... |
OMIM:220220 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Goiter, Furrowed tongue, Microgn... |
OMIM:615108 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Me... |
OMIM:617088 |
| Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Abnormal cranial nerve morphology, Vesti... |
ORPHA:252164 |
| Schimke Immuno-Osseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Abnormal intestine morphology, Short neck, Neutropenia, A... |
ORPHA:1830 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Vomiting, Skeletal muscle atrophy, Stiff neck, Anorexia, Leukopenia, Abnor... |
ORPHA:297 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Hypoplasia of the zygomatic bone, Micrognathia, Branchial anomaly, Cryptorchidism, A... |
ORPHA:1131 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Te... |
OMIM:601186 |
| Zimmermann-Laband Syndrome 3 |
|
Bifid uvula, Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinod... |
OMIM:618658 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Hepatosplenomegaly, Micrognathia, Cleft soft palate, Cryptorchidism... |
OMIM:619503 |
| Craniofacial Microsomia 2 |
|
Bifid uvula, Micrognathia, Submucous cleft palate |
OMIM:620444 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Hydranencephaly, Short distal phalanx of finger, Truncus arteriosus, Ventricular sep... |
OMIM:601355 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormality of the parathyroid gland, Abnormal form of th... |
ORPHA:3429 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Goiter, Furrowed tongue, Microgn... |
OMIM:615109 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Atri... |
ORPHA:371428 |
| Wolman Disease |
|
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... |
ORPHA:75233 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Stillbirth |
OMIM:183300 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... |
ORPHA:2521 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Ventricular septal defect, Stippling of the epiphyses of the dist... |
ORPHA:79345 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Mend Syndrome |
|
Aortic valve stenosis, Asymmetry of the mouth, Abnormal auditory evoked potentials, Long neck, Br... |
ORPHA:401973 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting t... |
ORPHA:672 |
| Lambert Syndrome |
|
Wide mouth, Branchial anomaly, Malar flattening, Ventricular septal defect |
ORPHA:1296 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... |
OMIM:612350 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Micrognathia, Short lingual frenulum, Congenital diaphragmatic hernia, Cry... |
ORPHA:96121 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Abnormal lower l... |
ORPHA:1166 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Decreased motor nerve conduction velocity, Gastroesophageal reflux, Vomiting, Nausea, H... |
ORPHA:298 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Absence of the sac... |
OMIM:617660 |
| Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Facial diplegia, Death in infancy, Peripheral hypomyelination, Neonata... |
OMIM:616287 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,... |
ORPHA:508488 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand,... |
OMIM:277600 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Downturned corners of mouth, Tetralogy of Fallot, Co... |
ORPHA:96147 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Malabsorption, Decreased proportion of naive T cells, Recurrent infection of the gastro... |
ORPHA:83471 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal h... |
OMIM:219000 |
| Geleophysic Dysplasia 1 |
|
Aortic valve stenosis, Joint contracture of the hand, Short metacarpals with rounded proximal end... |
OMIM:231050 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Micrognathia, Type II diabetes mellitus, Microdontia, Arrhythmia, Sho... |
ORPHA:3191 |
| Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Optic atrophy, Broad thumb, Widely spaced teeth, Thumb contracture, Narrow mouth, Laryngeal steno... |
ORPHA:324540 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis, Malar flattening, Everted lower lip vermilion, Microdontia |
DECIPHER:3 |
| Volvulus Of Midgut |
|
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... |
OMIM:193250 |
| Digeorge Syndrome |
|
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Patellar... |
OMIM:188400 |
| Holoprosencephaly |
|
Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... |
ORPHA:2162 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... |
ORPHA:536516 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Micrognathia, Narrow mout... |
ORPHA:2166 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Contracture of the proximal interph... |
OMIM:300166 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Aortic valve stenosis, Aortic regurgitation, Long philtrum, Irregular acetabular r... |
OMIM:619698 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn... |
OMIM:192350 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... |
OMIM:613662 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Abno... |
OMIM:300978 |
| Small Bowel Atresia |
|
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... |
ORPHA:1201 |
| Adiposis Dolorosa |
|
Constipation, Abdominal distention |
OMIM:103200 |
| Moebius Syndrome |
|
Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower limb undergrowth, S... |
OMIM:157900 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... |
OMIM:618506 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ve... |
OMIM:134780 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Subglottic stenosis, Death in childhood, Death in infancy, Hyperecho... |
OMIM:617941 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Bifid uvula, High palate |
OMIM:300850 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Stiff neck, Overlap... |
OMIM:617022 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... |
OMIM:613330 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Central hypothyroidism, Short 1st metacarpal, Anteriorly placed anus... |
OMIM:620305 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Goiter, Lymphopenia, Furrowed to... |
OMIM:158350 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Ventricula... |
ORPHA:2308 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Hypoplasia of the maxilla, Anterior basa... |
OMIM:136760 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Cryptorchidism, Encephalocele, Anal atresia, High palate, Myel... |
ORPHA:2052 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Small hand, Widely spaced teeth, Micrognathia, Sagittal craniosynostosis, ... |
ORPHA:459061 |
| Congenital Pulmonary Valvar Stenosis |
|
Laryngeal stenosis, Atrial septal defect |
ORPHA:3189 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Constipation, Abdominal distention, Macroglossia, Thyroid hypoplasia |
ORPHA:95720 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Prominent fingertip pads, Long philtrum, Short thumb, Hyperextensibility of the... |
OMIM:618821 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Mandibular prognathia, Broad thumb, Gastroesophageal reflux, Prominent fi... |
OMIM:619721 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Cutaneous finger syndactyly, Micrognathia, Overlapping toe, Cryptorchidism... |
OMIM:114300 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Mitral stenosis, Spondylolisthesis, Sho... |
OMIM:607016 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Cryptorchidism, Protrud... |
OMIM:612938 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Cryptorchidism, Pseudohypo... |
ORPHA:464288 |
| Distal Deletion 17Q |
|
Optic atrophy, Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Aplasia/Hy... |
ORPHA:1597 |
| Chung-Jansen Syndrome |
|
Laryngeal cleft, Long philtrum, Micrognathia, Cryptorchidism, Short philtrum, Hip dysplasia, Thin... |
OMIM:617991 |
| Alg3-Cdg |
|
Cardiomyopathy, Decreased liver function, Feeding difficulties, High palate, Metaphyseal chondrod... |
ORPHA:79321 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Claw hand deformity, Flared iliac wing,... |
OMIM:252605 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Chronic constipation, Ventricular septa... |
ORPHA:404440 |
| Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Dysphagia, Parathyroid adenoma, Mul... |
ORPHA:163634 |
| Lujan-Fryns Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... |
ORPHA:776 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Cystic hygroma, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebra... |
OMIM:277300 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Neoplasm ... |
ORPHA:79474 |
| Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Goiter, Constipation, Hypothyroidism, Macroglossia |
OMIM:274400 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Webbed neck, Juvenile myelomonocytic leukemia, Retrognathia, Long philtrum... |
OMIM:613563 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Bifid uvula, Retrognathia, Abnormal heart valve morph... |
ORPHA:169186 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Small hand, Restrictive cardiomyopathy, Metaphyseal sclerosis, Subglottic stenosis, Micrognathia,... |
OMIM:616051 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... |
OMIM:601216 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal fistula, Abnormal metacarpal ... |
ORPHA:2538 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Long philtrum, Umbilical hernia, Micrognathia, Cryptorchidism, Malar flattening, ... |
ORPHA:171839 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Short foo... |
ORPHA:915 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Short 5th toe, Cleft soft palate, Cryptorchidism, Ventricular septal defec... |
ORPHA:268261 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Micrognathia, Cryptorch... |
OMIM:620073 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Retrognathia, Micrognathia, Facial diplegia, Cryptorchidi... |
OMIM:611890 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Abnormal joint morphology, Micrognathia, Fib... |
ORPHA:1427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism... |
OMIM:300998 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus... |
OMIM:616589 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Black pigment gallstones, Mitral regurgitation... |
ORPHA:56 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Bifid uvula, Dilated cardiomyopathy, Retrognathia, Mi... |
OMIM:615959 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... |
OMIM:615237 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... |
OMIM:170390 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Central hypothyroidism, Volvulus, Vomiting, Malnutrition, Villous atrophy, Abnormal sma... |
ORPHA:95427 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hairline, ... |
ORPHA:261337 |
| Temple Syndrome |
|
Precocious puberty, Bifid uvula, Small hand, Maturity-onset diabetes of the young, Clinodactyly, ... |
OMIM:616222 |
| Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, Micrognathia, Cryptorchidism, Prenatal death, Neonatal death, High palate |
OMIM:618393 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short thumb, Mitral regurgitation, Ventricular septal defect, Brachydactyl... |
ORPHA:3449 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Tooth malposition, Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Periodontit... |
ORPHA:536532 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Microg... |
ORPHA:740 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
| Bangstad Syndrome |
|
Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insuffic... |
OMIM:210740 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Atrial septal defect, Patent ductus arteriosus, Precocious puberty, Trach... |
ORPHA:2637 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Camptodacty... |
ORPHA:2908 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Laryngeal cartilage... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Laryngeal cartilage... |
ORPHA:353277 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Abnormal mitral valve morphology... |
ORPHA:192 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Downturned corners of mouth, Cardiomyopathy, Anteriorly placed anus, Clinodactyly, Tracheal steno... |
OMIM:217980 |
| Mend Syndrome |
|
Aortic valve stenosis, Microretrognathia, Long neck, Broad hallux, Overlapping toe, Micrognathia,... |
OMIM:300960 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Right aortic arch, Situs inversus totalis, Hypothyroidism, Dextrocardia |
OMIM:617577 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Abdominal distention, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umb... |
OMIM:218700 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Cryptorchidism, Ventricular septa... |
ORPHA:353281 |
| Achondrogenesis Type 1A |
|
Abdominal distention, Long philtrum, Umbilical hernia, Micrognathia, Short neck, Thickened nuchal... |
ORPHA:93299 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... |
ORPHA:330001 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... |
ORPHA:160148 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:615942 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Abdominal pain, Diabetes mellitus |
ORPHA:90003 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft uppe... |
OMIM:612561 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Microretrognathia, Gastroesophageal reflux, Downturned corners of mouth, Intestina... |
ORPHA:457193 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... |
OMIM:601596 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Aortic root aneurysm, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, ... |
ORPHA:2745 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Broad thumb, Micrognathia, Open mouth, Narrow mouth, Chronic constipation, Low po... |
OMIM:619720 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Optic disc coloboma, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Narrow mou... |
ORPHA:1790 |
| Ascher Syndrome |
|
Deviation of finger, Goiter, Abnormal upper lip morphology, Hypothyroidism, High palate |
ORPHA:1253 |
| Cohen Syndrome |
|
Finger syndactyly, Genu valgum, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular ... |
ORPHA:193 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... |
OMIM:615382 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Short neck, Atrial septal defe... |
OMIM:612474 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, De... |
OMIM:218000 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Gastroesophageal reflux, ... |
ORPHA:464311 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,... |
ORPHA:464306 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Short neck, Brachydactyly, Short long bone, Protuberant abdo... |
ORPHA:221054 |
| Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Bifid uvula, Branchial fistula, Branchial cyst, Euthyroid goiter, Int... |
OMIM:113650 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... |
ORPHA:90653 |
| Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Hepatosplenome... |
ORPHA:763 |
| Jansen-De Vries Syndrome |
|
Small hand, Gastroesophageal reflux, Vomiting, Ventricular septal defect, Thin upper lip vermilio... |
OMIM:617450 |
| Noonan Syndrome 5 |
|
Webbed neck, Hypertrophic cardiomyopathy, Wide mouth, Cryptorchidism, Cubitus valgus, Arrhythmia,... |
OMIM:611553 |
| Acrodysostosis |
|
Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ... |
ORPHA:950 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H... |
ORPHA:1655 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Bifid uvula, Optic atrophy, Retrognathia, Thin upper lip vermilion, Maternal diabetes, Narrow pal... |
OMIM:620428 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Feeding difficulties, Micr... |
ORPHA:96184 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow dislocat... |
OMIM:108721 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... |
OMIM:179613 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Long philtrum, Tracheal stenosis, Subglottic stenosis, Mitral regurgitation... |
OMIM:617809 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Epiphyseal stippling, Typ... |
OMIM:274300 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Upper limb muscle weakness, Narrow mouth, Redundant neck skin, Syndactyly, Scapular ... |
ORPHA:2901 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis,... |
ORPHA:1248 |
| Desmoplastic Small Round Cell Tumor |
|
Ileus, Nausea and vomiting, Lymphadenopathy, Testicular neoplasm, Abdominal distention, Anemia, A... |
ORPHA:83469 |
| Cri-Du-Chat Syndrome |
|
Optic atrophy, Bifid uvula, Microretrognathia, Gastroesophageal reflux, Downturned corners of mou... |
OMIM:123450 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Diastasis recti, Splenomega... |
OMIM:608149 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Elevated circulati... |
OMIM:277440 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Bifid uvula, Glossoptosis, Retrognathia |
OMIM:615706 |
| Sweeney-Cox Syndrome |
|
Broad neck, Short distal phalanx of finger, Gastroesophageal reflux, Velopharyngeal insufficiency... |
OMIM:617746 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Narrow mouth, ... |
OMIM:228520 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Neuropathic spinal arthropathy, Reduced muscle fiber alpha dyst... |
ORPHA:370968 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrh... |
OMIM:181450 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Recurrent joint dislocat... |
OMIM:619472 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Venous malformation, Open mouth, Splenomegaly, Kyph... |
OMIM:176920 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Broad neck, Bifid uvula, Retrognathia, Optic disc coloboma, Bilateral cryptorchidism, Chronic con... |
OMIM:300472 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic ... |
OMIM:614816 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal oral mucosa morphology, Abnormal fingertip morphology, Dilated cardiomyopathy, Vomiting,... |
ORPHA:79404 |
| Temple Syndrome |
|
Precocious puberty, Bifid uvula, Nasogastric tube feeding, Decreased response to growth hormone s... |
ORPHA:254516 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly, Abnormality of the parathyroid gland, Osteoarthritis |
ORPHA:2762 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... |
OMIM:225250 |
| Martsolf Syndrome 1 |
|
Tooth malposition, Micrognathia, Cryptorchidism, Low posterior hairline, Feeding difficulties in ... |
OMIM:212720 |
| Primary Peritoneal Carcinoma |
|
Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention |
ORPHA:168829 |
| Brain-Lung-Thyroid Syndrome |
|
Webbed neck, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:209905 |
| Birk-Barel Syndrome |
|
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, Feeding ... |
OMIM:612292 |
| Tetrasomy 12P |
|
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... |
OMIM:182250 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Ankyloglossia, Ventricular septal defect, High palate, Optic disc col... |
OMIM:174300 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Diarrhea... |
OMIM:162300 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Dental crowdi... |
ORPHA:293939 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bifid uvula, Arthrogryposis multiplex congenita, Tented upper lip vermilion, Death in infancy, Th... |
OMIM:618622 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventricular canal defect,... |
ORPHA:40366 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegal... |
ORPHA:2969 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ... |
OMIM:264700 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... |
ORPHA:3258 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Abdominal distention, Umbilical hernia, Absent or minimally ossified vertebral ... |
OMIM:600972 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Short neck, Abdominal diste... |
OMIM:613885 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnormality of the neck, Ve... |
ORPHA:1926 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... |
ORPHA:1900 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... |
OMIM:215140 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Abd... |
OMIM:602557 |
| Bangstad Syndrome |
|
Abnormality of the dentition, Type I diabetes mellitus, Increased circulating cortisol level, Abn... |
ORPHA:1227 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Brachydactyly, Pulmonic stenosis |
OMIM:614819 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cryptorchidism, Irregular dentition... |
OMIM:602535 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal de... |
OMIM:620663 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... |
ORPHA:363417 |
| Primary Effusion Lymphoma |
|
Abdominal pain, Abdominal distention |
ORPHA:48686 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Patellar dislocation, Fing... |
OMIM:608739 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Trunc... |
OMIM:615415 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Odontogenic keratocysts of the jaw, Abdominal distenti... |
ORPHA:314473 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Velopharyng... |
OMIM:192430 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Bifid uvula, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, M... |
OMIM:108300 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Downturned corners of mouth, Bilate... |
ORPHA:2409 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Cryptorchidism, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irregular ve... |
ORPHA:439822 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... |
ORPHA:1458 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Optic disc coloboma, Abnormal large intestinal mucosa morphology, V... |
ORPHA:92050 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Metaphyseal irregularity, Stillbirth, Umbilical hernia, Adva... |
OMIM:269250 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Intest... |
OMIM:614701 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... |
OMIM:616531 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Neonatal death, Cleft palate |
OMIM:615524 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Camptodactyly of finger, Umbilical hernia, Micrognathia, Arachnodactyly, Aga... |
ORPHA:2604 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... |
ORPHA:2496 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Graves disease, Sinus tachycardia, Congestive heart failure, Goiter, Puberty and gonada... |
ORPHA:525731 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neonatal death, Bi... |
OMIM:265380 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Ventricular septal defect, 2-3 toe synd... |
OMIM:608572 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of ... |
ORPHA:3098 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Smooth tongue, Camptodactyly of finger, Elbow flexion contracture, ... |
ORPHA:3206 |
| Multiple Endocrine Neoplasia Type 2 |
|
Diarrhea, Abnormal tongue morphology, Proximal amyotrophy, Parathyroid adenoma, Paraganglioma of ... |
ORPHA:653 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention |
OMIM:606824 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... |
ORPHA:239 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersp... |
OMIM:230800 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:610443 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro... |
OMIM:200990 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... |
OMIM:101800 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte... |
OMIM:619345 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypopla... |
ORPHA:85166 |
| Lead Poisoning |
|
Vomiting, Abdominal distention, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Anore... |
ORPHA:330015 |
| Hydrolethalus |
|
Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micrognathia, Cryptorchidism, Su... |
ORPHA:2189 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Madelung deformity, Lumbar scoliosis, Bilateral breast hypoplasia, Hip dyspl... |
ORPHA:319675 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... |
OMIM:616202 |
| Orofacial Cleft 13 |
|
Micrognathia, Cleft soft palate, Retrognathia, Oligodontia |
OMIM:613857 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryp... |
ORPHA:85279 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae... |
OMIM:253220 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... |
ORPHA:1106 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Abdominal d... |
ORPHA:206484 |
| Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate, Laryngomalacia |
ORPHA:2373 |
| Buratti-Harel Syndrome |
|
Bifid uvula, Broad thumb, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Broad h... |
OMIM:619314 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Pseudohypoparathyroidism, Short neck, Enamel hypoplasia, Brachydactyly... |
OMIM:612463 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... |
ORPHA:168563 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... |
OMIM:184250 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Abnormal heart morphology, Micrognathia, Cryptorchidism, Optic ner... |
OMIM:214110 |
| Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Foot joint contracture, Dental malocclusion, ... |
ORPHA:444072 |
| Catel-Manzke Syndrome |
|
Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Cryptorchidism, Narrow mouth, Ventr... |
OMIM:616145 |
| Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Tracheal stenosis, Thyroid carcinoma, Hypothyroidism |
ORPHA:705 |
| Thyroid Lymphoma |
|
Broad neck, Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism, Dysp... |
ORPHA:97285 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Overlapping toe, Right aortic arch, De... |
OMIM:617478 |
| Fraser-Like Syndrome |
|
Overlapping toe, Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:229230 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regurg... |
OMIM:607014 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pancytopenia... |
ORPHA:562 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Dental crowding, Persisten... |
OMIM:619769 |
| Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Feeding difficulties, Mitral regurgitation, Cryptorchidism, Ventricular sep... |
OMIM:617506 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bifid uvula, Cleft upper lip, Dysplastic pulmonary valve, Scoliosis, Cleft pa... |
OMIM:300958 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... |
OMIM:305400 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Low posterior hairline, Short ne... |
ORPHA:264450 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Andersen-Tawil Syndrome |
|
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... |
ORPHA:37553 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| White-Sutton Syndrome |
|
Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Congenital diaphragmatic hernia, Short... |
OMIM:616364 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
| Graves Disease |
|
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Increased circul... |
OMIM:275000 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def... |
OMIM:300373 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Elevated circ... |
ORPHA:289157 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Narrow mouth, Mitral regurgitation, Everted lower lip vermilion, Patellar d... |
ORPHA:261349 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormality of the spleen, Tracheal stenosis, Abnormal low... |
ORPHA:93941 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... |
ORPHA:3097 |
| Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Joint contracture of the hand, Recurrent upper respiratory tract infections,... |
OMIM:612513 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Arrhythmia, Hypomimic face, Dysphag... |
ORPHA:254892 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter |
ORPHA:2091 |
| Choanal Atresia |
|
Subglottic stenosis, Chronic sinusitis, Polydactyly, Craniosynostosis, Feeding difficulties, Lary... |
ORPHA:137914 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Precocious puberty, Hypoplasia of the ma... |
ORPHA:2588 |
| Charge Syndrome |
|
Abnormal tibia morphology, Abnormal cranial nerve morphology, Cryptorchidism, Narrow mouth, Feedi... |
ORPHA:138 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, A... |
ORPHA:261537 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Hypoplastic... |
OMIM:614524 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Feeding diffi... |
ORPHA:177907 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Thrombocytopenia, Goiter |
OMIM:274240 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Sacral dimple, Feeding difficulties, Narrow mouth, Cryptorchidism, Coarctation of ... |
OMIM:615502 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... |
ORPHA:1798 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Pursed lips, Aglossia, ... |
OMIM:241310 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ... |
OMIM:619656 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Ovoid vertebral bo... |
OMIM:242900 |
| Phace Association |
|
Optic atrophy, Congenital hypothyroidism, Arterial stenosis, Ventricular septal defect, Lingual t... |
OMIM:606519 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... |
OMIM:200610 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Single ventric... |
ORPHA:2299 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short neck, Short f... |
OMIM:269860 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Joint subluxation, Abnormality of the dentitio... |
OMIM:616298 |
| Geleophysic Dysplasia 2 |
|
Aortic valve stenosis, Cone-shaped epiphysis, Long philtrum, Mitral stenosis, Mitral regurgitatio... |
OMIM:614185 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defe... |
OMIM:617159 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Genu valgum, Micrognathia, Cleft soft palate, Metaphyseal dysplasia, A... |
ORPHA:93316 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Proximal muscle weakness in upper limbs, Difficulty in tongue movements, Ora... |
ORPHA:98897 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Retrognathia, Downturned corners of mouth, Feeding difficulties, Wide mouth, Clinoda... |
OMIM:301030 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Webbed neck, Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidis... |
ORPHA:2701 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Myopath... |
ORPHA:800 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Postaxial foot polydactyly, Hepatosplenomegaly, Situs inversus totalis, Po... |
OMIM:267010 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... |
ORPHA:137888 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Open mouth, Cryptorchidism, Mitr... |
ORPHA:93932 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... |
OMIM:617102 |
| Au-Kline Syndrome |
|
Aortic root aneurysm, Supernumerary nipple, Overlapping toe, Feeding difficulties, Open mouth, Cr... |
OMIM:616580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Broad thumb, Dental crowding, Hyperextensibility of the finger joints,... |
OMIM:309520 |
| Thyroid Cancer, Nonmedullary, 4 |
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Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenitis, Hashimoto thyroiditis,... |
ORPHA:64744 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Dental malocclusion, Retrognathia, Velopharyngeal in... |
ORPHA:363444 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Bifid uvula, Micrognathia, Cleft palate, Pierre-Robin sequence |
OMIM:604841 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Tracheal stenosis, Subglottic stenosis, Oral ulcer, Granulomatosis, ... |
OMIM:608710 |
| Blepharochalasis And Double Lip |
|
Duplication of the upper lip, Goiter |
OMIM:109900 |
| Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... |
ORPHA:85443 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Bea... |
OMIM:150250 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Bicuspid aorti... |
ORPHA:2152 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, Mitral regurgitation, Ventricular... |
OMIM:615582 |
| Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Submucous cleft hard palate, T... |
OMIM:609166 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Genu valgum, Micrognathia, Cryptorchidism, Mitral valve prolapse, ... |
OMIM:182212 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Overlapping fingers, Open mouth, Cryptorchidism, Ventricular septal defect, Atri... |
OMIM:618494 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the ankle, Microretrognathia, Microglossia, Aplasia/Hyp... |
ORPHA:1307 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Clubbing |
OMIM:247610 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Congenital hip dislocation, Deviation of finger, Abnormal tricuspid valve morphology, Malar flatt... |
ORPHA:2412 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Optic atrophy, Gastroesophageal reflux, Micrognathia, Tented upper lip vermilion, Acetabular dysp... |
OMIM:619833 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, High, narrow palate, Caudal appendage, Prominent palatine ridges, Narrow m... |
OMIM:272950 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narrow mouth, Malar flattening, Atrial sep... |
ORPHA:261295 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Micrognathia, Cryptorchidism, Ventricular septal def... |
OMIM:270400 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Tooth malposition, Hyphema, Long hallux, Genu valgum, Open mouth, Cryptorc... |
ORPHA:261552 |
| Chromosome Xq13 Duplication Syndrome |
|
Dilation of Virchow-Robin spaces, Clinodactyly of the 5th finger, Limited elbow extension, Chroni... |
OMIM:301069 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening... |
ORPHA:93262 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Delayed puberty, Abdominal distention |
ORPHA:369 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Optic disc coloboma, Intestinal malrotation, Abdominal distention, Anal atres... |
OMIM:270420 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Diarrhea, Delayed cranial suture closure, Micrognathia, Ventricula... |
ORPHA:79328 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bon... |
ORPHA:2347 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Bifid uvula, Dilated cardiomyopathy, Vomiting, Micrognathia, Rhabdo... |
OMIM:614921 |
| Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Intervertebral disk degeneration, Mitral regurgitation, Knee osteoarth... |
ORPHA:284984 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Increased nuchal translucency, Thin upper lip vermilion, Laryngomalacia,... |
OMIM:618862 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Su... |
OMIM:601803 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... |
OMIM:277320 |
| Craniosynostosis 1 |
|
Aortic valve stenosis, Sagittal craniosynostosis, Right unicoronal synostosis, Craniosynostosis, ... |
OMIM:123100 |
| Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Abdominal d... |
OMIM:619879 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Polysplenia, Intestinal malrotation, Situs inversus totalis, Portal hypert... |
OMIM:208540 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Abdominal distention |
ORPHA:79097 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Micrognathia, Death in childhood, Rectal prolapse, Gastroesophageal reflux, Vascular dilatation, ... |
OMIM:613177 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolys... |
OMIM:166300 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Low posterior hairline, Dec... |
ORPHA:2959 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Supernumerary nip... |
OMIM:100300 |
| Sialuria |
|
Long philtrum, Long hallux, Splenomegaly, Low posterior hairline, Thin upper lip vermilion, Hypop... |
OMIM:269921 |
| Toriello-Carey Syndrome |
|
Clinodactyly, Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Micrognathia, Cryptorc... |
ORPHA:3338 |
| Coffin-Siris Syndrome 11 |
