| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Facial palsy, Dysphagia |
OMIM:617732 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Cranial nerve compression, Schwannoma, Feed... |
ORPHA:221098 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Optic nerv... |
OMIM:615583 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Laryngeal stenosis, Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal ... |
ORPHA:93352 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
| 3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Feeding difficulties in infancy, Short neck, High, narrow palat... |
ORPHA:7 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
| Atelosteogenesis Type I |
|
Joint dislocation, Laryngeal stenosis, Short femur, Micrognathia, Malrotation of colon, Abnormal ... |
ORPHA:1190 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Gastr... |
OMIM:609029 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Atelosteogenesis, Type I |
|
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... |
OMIM:108720 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Laryngeal stenosis, Facial palsy, Aplasia/Hypoplasia of the tongue, Micr... |
ORPHA:1358 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
| Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Clinodactyly of ... |
OMIM:619110 |
| Emanuel Syndrome |
|
Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... |
ORPHA:96170 |
| Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Cervical kyphosis, Micrognathia, Short neck, Short phalanx of finger, Broad m... |
ORPHA:56304 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Gastroesophageal r... |
OMIM:620186 |
| Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Facial palsy, Micrognathia, Hyperlordosis, High, narrow palate, Submuc... |
ORPHA:2780 |
| Peters Plus Syndrome |
|
Micrognathia, Short neck, Feeding difficulties in infancy, Bicuspid pulmonary valve, Abnormal pul... |
ORPHA:709 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, Short neck, High, narrow palate, Cleft palate, Abnormal ... |
ORPHA:2516 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
| Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Short neck, Schwannoma, Clubbing, Hypochromic microcyti... |
ORPHA:96123 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Micrognathia, Short neck, Flexion contracture, Orofacial cleft, High pal... |
ORPHA:261290 |
| Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... |
OMIM:617137 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... |
OMIM:601808 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Abnormality o... |
ORPHA:3426 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Cryptorchidism, Short thumb... |
OMIM:617516 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Laryngeal stenosis, Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joi... |
ORPHA:93360 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Enc... |
ORPHA:861 |
| Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Lumbar hyperlordos... |
OMIM:607095 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Chronic diarrhea,... |
OMIM:602450 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Protruding tongue... |
ORPHA:324410 |
| Bilateral Polymicrogyria |
|
Micrognathia, Feeding difficulties, Wide mouth, Facial diplegia, Pseudobulbar paralysis, Abnormal... |
ORPHA:268940 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... |
ORPHA:536471 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... |
OMIM:308050 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Subglottic stenosis, Exaggerated cupid's bow, Bicuspid aortic valve, Micrognathia, Tap... |
OMIM:614501 |
| Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
ORPHA:1600 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, Ventricular sept... |
ORPHA:401935 |
| Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Micrognathia, Mitral v... |
ORPHA:228410 |
| Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Short neck, Genu valgum, Aortic valve stenosis, Spon... |
OMIM:607016 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Short neck, Cleft upper lip, Cryptorchidism, Dup... |
OMIM:243310 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downtur... |
ORPHA:453499 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Bifid epiglottis, Decreased response to... |
OMIM:146510 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... |
ORPHA:103907 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Lymphad... |
ORPHA:142 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastri... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastri... |
ORPHA:352665 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, N... |
OMIM:271510 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Abnormal aryepiglottic fold morphology, Proximal placement of thumb, Micrognathia, Aplasia of the... |
OMIM:268305 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... |
OMIM:151200 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Acrocardiofacial Syndrome |
|
Joint dislocation, Feeding difficulties in infancy, Atrial septal defect, Finger syndactyly, Deat... |
ORPHA:2008 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Velopharyngeal insufficiency, High palate, Micrognathia |
OMIM:608363 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... |
ORPHA:95716 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Thyroid age... |
ORPHA:3047 |
| Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognath... |
OMIM:154400 |
| Athyreosis |
|
Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy... |
ORPHA:95713 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T ... |
OMIM:242700 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Bifid uvula, Cleft palate |
OMIM:618768 |
| Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal... |
ORPHA:1826 |
| Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hi... |
OMIM:208050 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Aplasia/Hyp... |
ORPHA:141152 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Abnor... |
ORPHA:508498 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:319487 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Flexion contra... |
ORPHA:75496 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, ... |
OMIM:143095 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Elevat... |
ORPHA:90673 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal ossification, Elevated ... |
ORPHA:226313 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Feeding difficulties in infancy, Abnormal aortic arch morphology, Hypop... |
ORPHA:567 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma... |
OMIM:201000 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Broad hallux, Accessory oral frenulum, Short neck, ... |
ORPHA:434179 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Finger syndactyly, Dental crowdi... |
ORPHA:435938 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Abnormality of ... |
OMIM:182290 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... |
ORPHA:261330 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Subglottic stenosis, Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal ... |
OMIM:619657 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Cryptorchidism, Abdominal distention, Diarrhea, Patent ductus arter... |
OMIM:608104 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Celiac disease, Abnormal... |
ORPHA:576283 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Verte... |
ORPHA:521445 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... |
OMIM:619941 |
| Cohen Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplas... |
OMIM:216550 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Subglottic stenosis, Delayed epiphyseal ossifica... |
ORPHA:93357 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Genu v... |
OMIM:252605 |
| Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Lu... |
OMIM:608328 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia |
OMIM:201550 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... |
ORPHA:97290 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Downtur... |
ORPHA:444077 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, Aplasia of the thymus, Severe... |
OMIM:102700 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Patent ductus arteriosus, Postaxial hand polydactyly, Aortic valve stenosis, V... |
OMIM:220220 |
| Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Anorexia, Leukocytosis, Abnormal gl... |
ORPHA:297 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Ventricular septal defect, Broad hallux,... |
OMIM:615948 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... |
ORPHA:90674 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum |
OMIM:611867 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Micrognathia, Short neck, High palate, Protein-losing enteropathy, Death in ... |
OMIM:235255 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... |
OMIM:615108 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Laryngeal calcification, Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, A... |
ORPHA:79345 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Thoracolaryngopelvic Dysplasia |
|
Laryngeal stenosis, Metaphyseal widening, Narrow pelvis bone, Irregular vertebral endplates, Hypo... |
OMIM:187760 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Periodontitis, Par... |
ORPHA:955 |
| Qazi-Markouizos Syndrome |
|
Abdominal distention, High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Chronic constipat... |
ORPHA:3010 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Small hypothena... |
ORPHA:2872 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De... |
ORPHA:1830 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Long hallux, Thick lower lip vermilion, Flexion con... |
OMIM:618658 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... |
OMIM:612350 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Aplasia of the thymus, Decreased pr... |
ORPHA:83471 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Splenomegaly, Supernumerary too... |
OMIM:617088 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper ... |
ORPHA:371428 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... |
OMIM:615109 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Esophageal Atresia |
|
Subglottic stenosis, Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmoti... |
ORPHA:1199 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ... |
OMIM:601186 |
| Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Constipation, Thyroid agenesis |
ORPHA:95719 |
| Lambert Syndrome |
|
Wide mouth, Malar flattening, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Nausea and vomiting, Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Limited ... |
ORPHA:83601 |
| Pallister-Hall Syndrome |
|
Bifid epiglottis, Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Atrial septal defec... |
ORPHA:672 |
| X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Cryptorchidism, Branchial anomaly, Hypoplasia of the zygomatic bone, High palate, P... |
ORPHA:1131 |
| Wolman Disease |
|
Nausea and vomiting, Adrenal calcification, Bone-marrow foam cells, Abdominal distention, Splenom... |
ORPHA:75233 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Feeding difficulties, Facial diplegia, Peripheral hy... |
OMIM:616287 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Small intestinal dysmoti... |
ORPHA:298 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Subglottic stenosis, Laryngeal stenosis, Dent... |
OMIM:219000 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Shor... |
ORPHA:508488 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Laryngeal web, Submucous cleft hard palate, Spinal dysraphism, Aortic valv... |
OMIM:617660 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Williams-Beuren Syndrome (WBS) |
|
Microdontia, Malar flattening, Aortic valve stenosis, Everted lower lip vermilion |
DECIPHER:3 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft p... |
ORPHA:1166 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Aortic valve stenosis |
ORPHA:2871 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Beaking of vertebral bodies, Thickened aortic valve cusp, Hyperlordosis, Di... |
OMIM:619698 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio... |
OMIM:277600 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Laryngeal stenosis, Thumb contracture, Tapered finger, Duplication of distal phala... |
ORPHA:324540 |
| Mend Syndrome |
|
Thickened nuchal skin fold, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoke... |
ORPHA:401973 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Intestinal malrota... |
ORPHA:2166 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Feeding difficulties in infancy, Abnormality of the ... |
ORPHA:2162 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
| Moebius Syndrome |
|
Abnormal nasopharynx morphology, Micrognathia, Feeding difficulties in infancy, Short neck, Conge... |
OMIM:157900 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
| Scimitar Syndrome |
|
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... |
ORPHA:185 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Protruding tongue, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect,... |
ORPHA:96147 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... |
OMIM:156510 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Overlapping fingers, Microg... |
OMIM:617022 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Camptodac... |
ORPHA:459061 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/Hy... |
ORPHA:1597 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Narrow mouth, Velopharyngeal insuf... |
OMIM:300978 |
| Jacobsen Syndrome |
|
Short neck, Feeding difficulties in infancy, Abnormal form of the vertebral bodies, Long hallux, ... |
ORPHA:2308 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... |
OMIM:158350 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
| Thyroid Hypoplasia |
|
Abdominal distention, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal vocal cord morphology, Micrognathia, Short neck, Kyphosis, Membranous subvalvular aortic... |
ORPHA:3191 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
| Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Dental crowding, Orofacial cleft, Vertebral segmentation... |
ORPHA:2052 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Alg3-Cdg |
|
Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,... |
ORPHA:79321 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect, Laryngeal stenosis |
ORPHA:3189 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contrac... |
OMIM:114300 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Laryngeal stenosis, Abnormal nasopharynx morphology, Preaxial polydactyl... |
OMIM:192350 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ... |
OMIM:134780 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... |
OMIM:612938 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, T l... |
ORPHA:508533 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli... |
ORPHA:79474 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Constipation, Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Cryptorchidism, 2-3 toe sy... |
ORPHA:404440 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Platyspondy... |
OMIM:601216 |
| Shwachman-Diamond Syndrome 2 |
|
Subglottic stenosis, Normocytic anemia, Death in infancy, Thrombocytopenia, Diarrhea, Metaphyseal... |
OMIM:617941 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... |
ORPHA:464288 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy... |
OMIM:615959 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed... |
ORPHA:268261 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Camptodactyly of finger, Arachnodactyly, Micrognathia, Hyp... |
ORPHA:776 |
| Neurooculorenal Syndrome |
|
Subglottic stenosis, Decreased circulating cortisol level, Ectopic posterior pituitary, Intestina... |
OMIM:620305 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Feeding difficulties, Wid... |
OMIM:618506 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Flexion c... |
OMIM:616222 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... |
ORPHA:915 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Cryptorchidism, Deep philtru... |
OMIM:613563 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Prominent veins on trunk,... |
ORPHA:536532 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Micrognathia, Cryptorchidis... |
OMIM:611890 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Int... |
ORPHA:740 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:615942 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Gastroeso... |
ORPHA:2538 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... |
ORPHA:3449 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Short palm, Micrognathia, Short neck, Abdominal distention, Short foo... |
ORPHA:93299 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Feeding difficulties in infancy, Abnormal for... |
ORPHA:192 |
| Bangstad Syndrome |
|
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, G... |
OMIM:210740 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Clinodactyly, Patent ductus arte... |
OMIM:618164 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... |
OMIM:218700 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, P... |
OMIM:614816 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... |
OMIM:612561 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... |
ORPHA:95427 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Craniosynostosis, Laryngea... |
ORPHA:1790 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Feeding difficulties in infancy, Nasogastri... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Feeding difficulties in infancy, Nasogastri... |
ORPHA:353277 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Micrognathia, Short neck, Short thumb, Short 5th finger,... |
OMIM:618821 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophag... |
ORPHA:353281 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Prominent fingertip pads, Prominent metopic ridge, Bicuspid aortic valve, ... |
OMIM:619721 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Platyspondyly, Ab... |
ORPHA:90653 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Subglottic stenosis, Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Restrictive car... |
OMIM:616051 |
| Kindler Epidermolysis Bullosa |
|
Laryngeal stenosis, Finger syndactyly, Abnormal dental enamel morphology, Premature loss of prima... |
ORPHA:2908 |
| Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Cryptorchidism, High palate, Prenatal death, Neonatal death, Retrognathia |
OMIM:618393 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Long phil... |
ORPHA:261337 |
| Ascher Syndrome |
|
Deviation of finger, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High, narrow palate, Sh... |
ORPHA:193 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Widely spaced teeth, High... |
OMIM:612474 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the dentition, ... |
OMIM:179613 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Micrognathi... |
OMIM:300960 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Congenital hip dislocation, Facial palsy, Intestinal malrotati... |
OMIM:113650 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Pyloric stenosis, Cryptor... |
ORPHA:96184 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Ta... |
ORPHA:464311 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Protuberant abdomen, Cystic hyg... |
ORPHA:221054 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Vomiting, Gastroesophageal reflux, Cl... |
ORPHA:464306 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
| Stickler Syndrome, Type Ii |
|
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula |
OMIM:604841 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
| Chung-Jansen Syndrome |
|
Micrognathia, Tapered finger, Cryptorchidism, Feeding difficulties, Hip dysplasia, Thin vermilion... |
OMIM:617991 |
| Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... |
ORPHA:252164 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
| Proteus Syndrome |
|
Kyphoscoliosis, Open mouth, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Lymphan... |
OMIM:176920 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Broad hallux, Clinodactyly ... |
OMIM:620073 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Micrognathia, Short nec... |
ORPHA:1655 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... |
OMIM:277440 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Micrognathia, Hypopla... |
OMIM:108721 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Micrognathia, Short neck, Abnormality of the humerus, Pre... |
ORPHA:3098 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly |
ORPHA:2762 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxil... |
OMIM:608149 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, C... |
ORPHA:2637 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Precociou... |
ORPHA:254516 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchid... |
ORPHA:171839 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... |
OMIM:617746 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, J... |
OMIM:182250 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Diastasis recti, Short neck, Feeding difficultie... |
OMIM:123450 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor... |
OMIM:612292 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... |
ORPHA:83469 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Feeding difficult... |
ORPHA:95715 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alveolar ridge ... |
OMIM:252500 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Diabetes mellitus, Tented uppe... |
OMIM:618622 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Hyperlordosis, High, narrow palate, Diarrhea, Thick l... |
OMIM:162300 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Abdominal distention, Stillbirth, Absent or minimally ossified vertebral bodies... |
OMIM:600972 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost... |
OMIM:212720 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Abdominal distention, Perica... |
OMIM:613885 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... |
OMIM:300472 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Open bite, Venous insufficiency, Abno... |
ORPHA:2969 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of the upper respiratory tract, Laryngeal stenosis, Erosion of oral mucosa, Abnormal ... |
ORPHA:79404 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Patent foramen ova... |
ORPHA:293939 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Joint dislocation, Decreased muscle mass, Thoracic scoliosis, High, narrow palate, Wrist drop, Jo... |
ORPHA:1900 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Feeding difficulties in infancy, Vertebral segment... |
ORPHA:2745 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Optic disc coloboma, Postaxial f... |
OMIM:174300 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... |
OMIM:614701 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn... |
OMIM:616531 |
| Mesomelia-Synostoses Syndrome |
|
Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodac... |
ORPHA:2496 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck, Cryptorch... |
OMIM:217980 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Abdominal distention, Delayed epiphyseal ossification, Splenome... |
OMIM:602557 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
| Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal distention, Abnorm... |
ORPHA:314473 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Femoral bowing, Stillbirth, Aortic valve st... |
OMIM:615415 |
| Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia |
OMIM:613857 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Kyphosis, Irregular femoral epiphysis, Submucous cleft... |
OMIM:108300 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis, Brachydactyly |
OMIM:614819 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
| Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Geleophysic Dysplasia 3 |
|
Subglottic stenosis, Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short ... |
OMIM:617809 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Feeding difficulties in infancy, ... |
OMIM:608572 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypo... |
ORPHA:1926 |
| Greenberg Dysplasia |
|
Laryngeal calcification, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic ve... |
OMIM:215140 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Micrognathia, Deep phil... |
OMIM:619720 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... |
OMIM:265380 |
| Geleophysic Dysplasia 1 |
|
Short palm, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Congestive heart failure, Hy... |
OMIM:231050 |
| Ulnar-Mammary Syndrome |
|
Subglottic stenosis, Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia,... |
OMIM:181450 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... |
ORPHA:439822 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Conges... |
ORPHA:525731 |
| Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... |
ORPHA:653 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
| Bangstad Syndrome |
|
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... |
ORPHA:1227 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Short neck, Micrognathia,... |
ORPHA:96334 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r... |
OMIM:619345 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Vertebral compression fra... |
OMIM:230800 |
| Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Centra... |
OMIM:617450 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Abnormality of the dentition, F... |
ORPHA:3206 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchid... |
ORPHA:2409 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly, Micrognathia... |
ORPHA:2604 |
| Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Abdominal distention, Abnormal carpal morphology,... |
ORPHA:85166 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Gonadoblastoma |
|
Abdominal pain, Abdominal distention, Increased serum testosterone level, Ovarian gonadoblastoma,... |
ORPHA:206484 |
| Noonan Syndrome 5 |
|
Mandibular prognathia, Short neck, Cubitus valgus, Cryptorchidism, Wide mouth, Thick vermilion bo... |
OMIM:611553 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Precocious puberty, Cleft palate, Bifid uvula, Scoliosis, Dysplastic pulmonary v... |
OMIM:300958 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corn... |
OMIM:616364 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Abnormal ... |
OMIM:214110 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... |
OMIM:617478 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi... |
OMIM:612463 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... |
ORPHA:264450 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa... |
ORPHA:168563 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Widely spaced teeth, Narrow greater sciatic notch, Anterior beak... |
OMIM:253220 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Thyroid Lymphoma |
|
Broad neck, Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, G... |
ORPHA:97285 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Gastroesophageal... |
OMIM:300373 |
| Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Imbalance... |
ORPHA:330015 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan... |
ORPHA:93316 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, H... |
OMIM:607014 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Abnormal form of the vertebral bod... |
ORPHA:1106 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
| Hydrolethalus |
|
Tracheal atresia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard ... |
ORPHA:2189 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... |
OMIM:616145 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... |
OMIM:305400 |
| Immunodeficiency 9 |
|
Death in infancy, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stom... |
OMIM:612782 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot oligodactyly, Hy... |
ORPHA:3258 |
| Charge Syndrome |
|
Feeding difficulties in infancy, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflu... |
ORPHA:138 |
| Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter |
ORPHA:705 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Abnormal... |
ORPHA:562 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia, Abnormality of the musculature of the limbs |
ORPHA:3327 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb |
ORPHA:2091 |
| Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Sub... |
OMIM:619314 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Abnormality of the verteb... |
ORPHA:239 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Carious teeth, Cryptorchidism, Deep philtrum, Thick lowe... |
ORPHA:2701 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Thrombocytopenia, Goiter |
OMIM:274240 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Feeding difficulties in infancy, Deep philtrum, High palate, Widely spaced teeth, Atr... |
OMIM:617506 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Gastroesophageal reflux, Hypothyroidism, Hy... |
ORPHA:254892 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Prec... |
ORPHA:2588 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Ventricular septal defect, Tapered finger, Cryptorc... |
OMIM:617159 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, Pulm... |
OMIM:301030 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, High palate, ... |
ORPHA:85279 |
| Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve pr... |
OMIM:614185 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricusp... |
OMIM:600001 |
| Schimke Immunoosseous Dysplasia |
|
Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:242900 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, Gastroesophageal reflux,... |
OMIM:616580 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen oval... |
OMIM:269860 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip... |
ORPHA:363444 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia,... |
ORPHA:319675 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexi... |
ORPHA:261537 |
| Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Fused teeth, Gastroesophageal reflux, High palate, Atrial septal d... |
ORPHA:93932 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Clubbing |
OMIM:247610 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Hepatosp... |
OMIM:267010 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachno... |
ORPHA:284984 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormal auton... |
ORPHA:85443 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Patent ductus ... |
ORPHA:2412 |
| Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa va... |
OMIM:615582 |
| Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defect, Sudden card... |
OMIM:614921 |
| Blepharochalasis And Double Lip |
|
Duplication of the upper lip, Goiter |
OMIM:109900 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Abnormal cartilage m... |
ORPHA:2347 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Feeding difficulties, Coar... |
OMIM:615502 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals... |
OMIM:602535 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb... |
ORPHA:93262 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... |
OMIM:272950 |
| Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Vomiting, Gastroesophage... |
ORPHA:79328 |
| 20P12.3 Microdeletion Syndrome |
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Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, At... |
ORPHA:261295 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
| Craniosynostosis 1 |
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Sagittal craniosynostosis, Craniosynostosis, Right unicoronal synostosis, Aortic valve stenosis, ... |
OMIM:123100 |
| Igg4-Related Thyroid Disease |
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Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Smith-Lemli-Opitz Syndrome |
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Dental crowding, Proximal placement of thumb, Micrognathia, Gastrointestinal dysmotility, 2-3 toe... |
OMIM:270400 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Cleft pala... |
OMIM:270420 |
| Fraser-Like Syndrome |
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Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd f... |
OMIM:229230 |
| Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... |
OMIM:609166 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Abdominal distention, Hypertrophic cardiomyopathy, Delayed puberty |
ORPHA:369 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
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Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Microcyt... |
ORPHA:2959 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
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Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Multicentric Carpotarsal Osteolysis Syndrome |
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Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s... |
OMIM:166300 |
| Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastr... |
ORPHA:2152 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Thin upper lip vermilion, Atrial septal defect, Hyperextensibility of the finger joints, Dental c... |
OMIM:309520 |
| Adams-Oliver Syndrome 1 |
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Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ni... |
OMIM:100300 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
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Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Pancreatic cysts, Situs inversu... |
OMIM:208540 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
| Meckel Syndrome 14 |
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Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regur... |
OMIM:619879 |
| Sialuria |
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Thin upper lip vermilion, Splenomegaly, 2-3 toe syndactyly, Low posterior hairline, Macroglossia,... |
OMIM:269921 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexi... |
ORPHA:261552 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
| Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Feeding difficulties in infancy, High palate, Widely spaced teeth, Promine... |
OMIM:610443 |
| 8Q22.1 Microdeletion Syndrome |
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Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... |
ORPHA:178303 |
| Cerebellofaciodental Syndrome |
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Ventricular septal defect, Short neck, Tapered finger, Cryptorchidism, Dental malocclusion, Short... |
OMIM:616202 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Chronic constipation, High palate, Sc... |
OMIM:300676 |
| Polyembryoma |
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Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... |
ORPHA:180229 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
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Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Metaph... |
OMIM:182212 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Prominent fingertip pads, A... |
OMIM:618494 |
| Folinic Acid-Responsive Seizures |
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Abdominal distention, Optic atrophy |
ORPHA:79097 |
| Apert Syndrome |
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Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
| Mohr Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Choanal Atresia |
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Subglottic stenosis, Craniosynostosis, Feeding difficulties, Polydactyly, Laryngomalacia, Chronic... |
ORPHA:137914 |
| Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... |
OMIM:613795 |
| Coffin-Siris Syndrome 11 |
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Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Downturned corners of mou... |
OMIM:618779 |
| Orofaciodigital Syndrome Type 2 |
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Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Hypop... |
ORPHA:2751 |
| Deiodinase, iodothyronine, type I |
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Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
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Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| X-Linked Acrogigantism |
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Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Multiple Endocrine Neoplasia Type 1 |
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Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| 2P15P16.1 Microdeletion Syndrome |
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High palate, Prominent metopic ridge, Facial palsy, Tapered finger, Scoliosis, Narrow mouth, Retr... |
ORPHA:261349 |
| Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology, Abnormality of the spleen, Tracheoesophageal fistula, Abn... |
ORPHA:93941 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
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Persistent fetal circulation, Thin upper lip vermilion, Prominent fingertip pads, Tricuspid regur... |
OMIM:612863 |
| Frontorhiny |
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Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... |
ORPHA:391474 |
| Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Sacral dimple, Abnormality of thyroid physiology, Postaxial polydactyly, Abnormality of the denti... |
OMIM:300968 |
| Arnold-Chiari Malformation Type I |
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Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... |
ORPHA:268882 |
| Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorc... |
OMIM:180849 |
| Alstrom Syndrome |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
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Thin upper lip vermilion, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Metatarsus addu... |
OMIM:612513 |
| Autosomal Recessive Robinow Syndrome |
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Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
| 3P25.3 Microdeletion Syndrome |
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Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... |
ORPHA:435638 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
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Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, M... |
ORPHA:247262 |
| Zimmermann-Laband Syndrome |
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Hallux valgus, Micrognathia, Short neck, Splenomegaly, Supernumerary tooth, Gingival fibromatosis... |
ORPHA:3473 |
| Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... |
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