Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Up... |
ORPHA:294975 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... |
OMIM:231060 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... |
OMIM:615415 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Renal agenesis, Renal hypo... |
ORPHA:2516 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte... |
ORPHA:401935 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal... |
OMIM:616589 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept... |
ORPHA:93267 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... |
OMIM:619657 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... |
ORPHA:2345 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:136760 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia |
OMIM:612776 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... |
OMIM:109400 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Omphalocele, Hypoplasia of the premaxilla, Inte... |
ORPHA:2166 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Femoral hernia, Micromelia, Micrognathia, Short... |
ORPHA:93298 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Beaded ribs, Micrognathia, Cardiomegaly, Short neck, Flexion contract... |
OMIM:616897 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Femoral hernia, Recurre... |
ORPHA:93299 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
Isolated Osteopoikilosis |
|
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... |
ORPHA:166119 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Short pa... |
ORPHA:915 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... |
OMIM:215140 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec... |
OMIM:608149 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... |
ORPHA:1327 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr... |
OMIM:108720 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, N... |
ORPHA:1865 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Achondrogenesis |
|
Thickened nuchal skin fold, Inguinal hernia, Severe short stature, Micromelia, Micrognathia, Shor... |
ORPHA:932 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Hypoplasia of the maxilla, Sensorineural hearing impairment, Delayed s... |
OMIM:608154 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Intestinal malrotation, Polyhy... |
ORPHA:3376 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Hernia,... |
ORPHA:3378 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydramnios, Metaphyseal widening, ... |
OMIM:263210 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Cervical cord compression, A... |
ORPHA:79345 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun... |
ORPHA:1120 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrop... |
OMIM:600972 |
Trisomy 1Q |
|
Anophthalmia, Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Microretrognathia... |
ORPHA:261344 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Abnormal lung lobation, Hemivertebrae, Hydr... |
ORPHA:99776 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... |
ORPHA:90652 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... |
ORPHA:93323 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... |
OMIM:236110 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac... |
ORPHA:2008 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narr... |
OMIM:269860 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Cardiomegaly, Short neck, Fetal akinesia sequence, ... |
OMIM:617022 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Hypoplas... |
ORPHA:776 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... |
ORPHA:2462 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... |
ORPHA:2437 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteoscle... |
OMIM:215045 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Verheij Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Truncus arteriosus, Renal agenesis, Hip disl... |
OMIM:615583 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:615524 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin... |
OMIM:601186 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic ... |
OMIM:619123 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Atrial septal defect, Short stature, Hypopl... |
ORPHA:261295 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Abnormal aorti... |
ORPHA:1166 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Micrognathia, Pectus excavatum, Malar prominence, Sp... |
ORPHA:2522 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Aqueductal stenosis, Short neck, Narrow chest, Neonatal death, Short ti... |
OMIM:251230 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... |
ORPHA:2710 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... |
OMIM:156510 |
Mosaic Trisomy 20 |
|
Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... |
ORPHA:1724 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... |
ORPHA:508498 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Conductive he... |
OMIM:252100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, F... |
OMIM:274000 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Inguinal hernia, Spina bifida, Dermatoglyphic ridges abnormal, Mitral ... |
OMIM:211960 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Fin... |
ORPHA:193 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia ... |
ORPHA:96334 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... |
OMIM:166300 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture, Cardiomyop... |
OMIM:616549 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus ... |
OMIM:304050 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Atrial septal defe... |
ORPHA:2538 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Mitral... |
ORPHA:90653 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Cleft pal... |
OMIM:613885 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic... |
OMIM:201170 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab... |
OMIM:144750 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia,... |
ORPHA:2092 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Prea... |
ORPHA:79113 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Accelerated skeletal maturation, Flexion cont... |
OMIM:253220 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Anophthalmia, Camptodactyly of f... |
ORPHA:1101 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Partial duplication of the proxi... |
ORPHA:363417 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... |
ORPHA:3033 |
Mulibrey Nanism |
|
Short stature, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Congestive ... |
OMIM:253250 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen... |
OMIM:214300 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ... |
ORPHA:1705 |
Cohen Syndrome |
|
Short metacarpal, Thoracic scoliosis, Short stature, Single transverse palmar crease, Lumbar hype... |
OMIM:216550 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Mit... |
OMIM:601216 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism... |
ORPHA:85279 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Atrial septal defect, Tricuspid regurgitation, Sandal gap, High, na... |
OMIM:612863 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, E... |
OMIM:200610 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchid... |
ORPHA:1707 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ea... |
ORPHA:192 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death,... |
OMIM:146510 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn... |
ORPHA:1692 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abn... |
ORPHA:73230 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
Meacham Syndrome |
|
Accessory spleen, Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:608978 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... |
OMIM:615993 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Premature birth, Cardiomegaly, Congestive heart failure, Abnormal thorax morphology, ... |
OMIM:269920 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypop... |
ORPHA:2409 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed a... |
OMIM:615546 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Premature birth, Delayed skeletal maturation, Abnormality of th... |
ORPHA:3268 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Hypoplasia of ... |
OMIM:610829 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Polyhydramnios, Dela... |
OMIM:114290 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cond... |
OMIM:300373 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Inguinal herni... |
ORPHA:2412 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ... |
ORPHA:3380 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... |
ORPHA:3035 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... |
OMIM:608328 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Vacterl/Vater Association |
|
Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia... |
ORPHA:887 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Pectus c... |
OMIM:300676 |
Sialidosis Type 2 |
|
Inguinal hernia, Short stature, Kyphosis, Short thorax, Flexion contracture, Osteoporosis, Hydrop... |
ORPHA:87876 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft... |
OMIM:614815 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... |
OMIM:615996 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Lon... |
OMIM:618316 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short stature, Premature birth, Congenital diaphragmatic he... |
ORPHA:1834 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Hiatus hernia,... |
ORPHA:50 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Narrow mouth, Vel... |
OMIM:617746 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... |
ORPHA:3258 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Dislocated radial head, Short metacarpal, Short stature, C... |
OMIM:211750 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Conical inciso... |
OMIM:235510 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Antegonial notching of ma... |
OMIM:170390 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra... |
OMIM:615982 |
Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Cervical C2/C3 vertebral fusion, Accelerated skeletal... |
OMIM:617190 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Bilatera... |
OMIM:602535 |
Meckel Syndrome, Type 1 |
|
Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plat... |
OMIM:249000 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Short stat... |
ORPHA:1307 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyopathy, Small... |
OMIM:300845 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Ventricular septal d... |
ORPHA:96129 |
3C Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Abnormal tricuspid valve morphology... |
ORPHA:7 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Polyhydramnios, Pectus carinatum, Prominent interphalangeal joints, Long t... |
OMIM:618371 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Pectus excavatum, Esophageal atresia, Muscular ventricular septal defect, Submucou... |
OMIM:619227 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Short stature, Pa... |
OMIM:277600 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed a... |
OMIM:601390 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Micrognathia, Aqueductal stenosis, Hemivertebrae, Abnormal form of ... |
ORPHA:3412 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the verteb... |
ORPHA:93262 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydro... |
ORPHA:1926 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Mitral valve prolapse, Knee flexion contrac... |
OMIM:606631 |
Platyspondylic Dysplasia, Torrance Type |
|
Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm... |
ORPHA:85166 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Micrognathia, Flexion contracture, Cardiomyopathy, Abnormality of the ... |
OMIM:608540 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo... |
ORPHA:2588 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist flexion contracture, ... |
ORPHA:254528 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Tracheomal... |
ORPHA:1393 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, 2-3 toe cu... |
OMIM:609625 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Decreased fetal movement, Glue ear, Secundum atrial septal defe... |
OMIM:619758 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vert... |
OMIM:130720 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cle... |
ORPHA:945 |
Feingold Syndrome 1 |
|
Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Esophageal atresia, Patent ductu... |
OMIM:164280 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d... |
OMIM:617516 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Congenital hip dislocation,... |
OMIM:609029 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... |
OMIM:246560 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Diffuse alveolar hemorrhage, Asplenia, Cervical lymp... |
OMIM:614034 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, High palate, Atrial septal defect, Long toe, Taper... |
OMIM:158170 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta... |
ORPHA:3219 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Abnormal lung lobation, High palate, Conductive hearing impairment, Thicke... |
OMIM:607872 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumon... |
ORPHA:354 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Pericallosal lipoma, Lumbar hyperlordosis, Camp... |
ORPHA:391474 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... |
ORPHA:1908 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydr... |
OMIM:610828 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... |
OMIM:619142 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... |
OMIM:600920 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:264480 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... |
ORPHA:950 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... |
ORPHA:261330 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial po... |
OMIM:617895 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Hearing impairment, Hypoplasia of the maxilla, Cleft pa... |
OMIM:614261 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He... |
OMIM:185070 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Premature birth, Micromelia, Micrognathia, Polyh... |
ORPHA:2189 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Anterior encephaloce... |
OMIM:601357 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con... |
OMIM:218000 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Abnormal dental ena... |
ORPHA:1798 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Predominantly lower limb lymphedema, Metatarsus adductus, Hypoplasia of... |
ORPHA:293939 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ... |
ORPHA:2635 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypoplastic spleen, Ankyloglossia, Br... |
OMIM:602361 |
Lateral Meningocele Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bodies, High palate... |
ORPHA:2789 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Hepatic fibrosis, Micro... |
OMIM:614091 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,... |
OMIM:614846 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, High, n... |
OMIM:180849 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial sept... |
OMIM:214800 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Short stature, Polyhydramnios, Short neck, Rib fusion, Hemiver... |
ORPHA:1394 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li... |
ORPHA:521308 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... |
OMIM:620099 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... |
ORPHA:1529 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the... |
OMIM:109120 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac... |
ORPHA:481152 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Renal agenesis, Anomalous origin of left coronary artery from the pulmona... |
ORPHA:2326 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity... |
OMIM:600373 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Joint... |
OMIM:130000 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, High palate, Prominent U wa... |
ORPHA:37553 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid... |
ORPHA:96170 |
Marfan Syndrome |
|
Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Micrognathia, Incisional hernia, Flexi... |
OMIM:154700 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Absent th... |
OMIM:609053 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... |
OMIM:249670 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoraci... |
ORPHA:530983 |
Keipert Syndrome |
|
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... |
ORPHA:2662 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... |
OMIM:156530 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... |
OMIM:192430 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi... |
OMIM:616038 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Short stature, Tapered finger, Cryptorchidism, Patent d... |
OMIM:617159 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... |
ORPHA:957 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Re... |
OMIM:247200 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Atrial ... |
ORPHA:2369 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... |
ORPHA:794 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck... |
ORPHA:2021 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall... |
ORPHA:949 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Protruding ear, High palate, Atrial septal defect, E... |
OMIM:601776 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short neck, Flexion contractur... |
OMIM:263650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Short stature, Micrognath... |
OMIM:300534 |
Neonatal Marfan Syndrome |
|
Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Emphys... |
ORPHA:284979 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... |
ORPHA:397973 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Polyhydramnios, Abnormal limb bone morphology, Hyd... |
ORPHA:2204 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Posteriorly rotated ears, Micrognathia, Bi... |
OMIM:618529 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Conductive hearing impairment, Clinodactyly of... |
OMIM:257920 |
Fryns Syndrome |
|
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ... |
ORPHA:2059 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Hypoplasia of the maxilla, Postnatal grow... |
ORPHA:251061 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Abnormal thorax morphology, Orbital enc... |
OMIM:164180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Macroorchidism, Arachnodactyly, Ventricula... |
OMIM:309520 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo... |
ORPHA:50945 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Metaphyseal widening, High palate, Spina bifida, Hyperlordosis... |
OMIM:234100 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Edema, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Vasculit... |
ORPHA:324964 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p... |
ORPHA:1488 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... |
ORPHA:261318 |
Congenital Heart Block |
|
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... |
ORPHA:60041 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr... |
ORPHA:1445 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... |
ORPHA:178303 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ... |
OMIM:616954 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lymphedema, Bone pain, Upper limb asymmetry, Aty... |
ORPHA:2485 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl... |
OMIM:617137 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus def... |
OMIM:256520 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Ventricular septal defect, Short stature, Sagittal craniosynostosis, Mi... |
OMIM:145420 |
Down Syndrome |
|
Prenatal double bubble sign, Single transverse palmar crease, Hypoplastic iliac wing, Atrial sept... |
OMIM:190685 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conduc... |
OMIM:157800 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... |
ORPHA:65759 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Protruding ear |
OMIM:618302 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Narrow palate, Multiple sut... |
ORPHA:207 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs... |
OMIM:618265 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Nonimmune hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Pulmonary hyp... |
OMIM:613124 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Prominence of the premaxilla, Short stature, Delayed closure of the ant... |
OMIM:614886 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... |
OMIM:616367 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Pulmonary artery atresia, Conductive ... |
ORPHA:2876 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Single transverse palmar cr... |
ORPHA:2332 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet... |
ORPHA:2879 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hydronephrosis, Hypoplastic left hear... |
ORPHA:1727 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Abnormal lung lobation, Atrial septal defect, Conductiv... |
ORPHA:567 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Delayed skeletal maturation, ... |
OMIM:614450 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow palate, Fetal akinesia ... |
OMIM:208150 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve... |
OMIM:231070 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Anal stenosis, Short stature, Tracheomalacia, Micrognathia, Hypoplasia of... |
ORPHA:314679 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... |
OMIM:613390 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Congeni... |
OMIM:222448 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspl... |
ORPHA:2970 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas... |
OMIM:300280 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Hydrops fetalis, Large fleshy ... |
ORPHA:79328 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P... |
ORPHA:564 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... |
ORPHA:449400 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Cleft palate, Abnormal form of the ... |
ORPHA:3104 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Hamartoma of tongue, Hydrocephalus, Short n... |
OMIM:616546 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Protruding ear, Atrial septal defect, Bifi... |
OMIM:613458 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Pulmonic st... |
OMIM:134780 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Pulmonary artery atres... |
OMIM:616894 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... |
OMIM:607361 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:306542 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, C... |
OMIM:613804 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Camptodactyly of toe, Branchial... |
ORPHA:261337 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Macrotia, Decreased testicular s... |
ORPHA:93950 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ... |
ORPHA:584 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame... |
OMIM:600001 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes... |
ORPHA:1104 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Short stature, Fifth finger di... |
OMIM:257850 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Congeni... |
ORPHA:2143 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid... |
ORPHA:1703 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven... |
OMIM:618142 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Flattened femora... |
ORPHA:79255 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef... |
ORPHA:2756 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retarda... |
ORPHA:254534 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia, Short s... |
ORPHA:281 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies,... |
ORPHA:2162 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri... |
OMIM:615994 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,... |
OMIM:181180 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... |
ORPHA:391641 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism,... |
OMIM:601499 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... |
ORPHA:1110 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Pectus carinatum, Conductive hearing impairment,... |
ORPHA:3082 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Renal cyst, ... |
OMIM:611561 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma... |
ORPHA:2145 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Short stature, Hyper... |
ORPHA:577 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... |
OMIM:300484 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A... |
OMIM:601809 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Se... |
OMIM:230500 |
Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Polyhydramnios, Flexion contracture, Pterygium, Bifid uvula... |
ORPHA:2671 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Osteo... |
ORPHA:287 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular ... |
ORPHA:672 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi... |
OMIM:261540 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, High, narrow palate, Knee flexion contracture, High pala... |
OMIM:613776 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Decreased fetal movement, Congenital diaphragmatic hernia, ... |
OMIM:613630 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short st... |
ORPHA:1988 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly... |
ORPHA:137834 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Lumbar hyperlordosis, Vertebral fusion... |
ORPHA:313892 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Polyhydramnios, Atrial ... |
OMIM:229850 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Pat... |
ORPHA:77298 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Small earlobe, Short stature, Micrognathia, Elbow dislocation, Hypoplasi... |
OMIM:613805 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Polyhydramnios, Holoprosencephaly, Encephalocele, Rhizomelia, Sp... |
ORPHA:63259 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Cervicomedullary schisis, Sensorineural hearing impairment,... |
OMIM:118100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Polyhydramnios, Micrognathia, Short neck, Flexion contracture, High palate, S... |
OMIM:620369 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Abnorma... |
OMIM:600776 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan... |
OMIM:616730 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... |
ORPHA:2554 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Premature birth, Beade... |
OMIM:166210 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malformation of the hepatic duct... |
OMIM:614175 |
Miller-Dieker Syndrome |
|
Omphalocele, Sacral dimple, Polyhydramnios, Growth delay, Clinodactyly of the 5th finger |
ORPHA:531 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 ver... |
OMIM:617333 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoe... |
ORPHA:268249 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Short stat... |
ORPHA:582 |
Caudal Duplication |
|
Omphalocele, Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sa... |
ORPHA:1756 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease... |
ORPHA:83617 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... |
ORPHA:295 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... |
ORPHA:828 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Retinal t... |
OMIM:620157 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Thin upper lip vermilion... |
OMIM:220500 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... |
OMIM:613803 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se... |
OMIM:619980 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Congenital sensorineural hearing impairment, Meningocele, Short neck |
ORPHA:3456 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co... |
OMIM:150250 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S... |
OMIM:305600 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, Bilateral cryptorchidism, High,... |
ORPHA:485405 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, High palate, Narrow chest, Atrial sept... |
OMIM:613610 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... |
OMIM:600325 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorc... |
OMIM:617796 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atria... |
OMIM:263520 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,... |
ORPHA:2308 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Abnormal metacarpal morpholog... |
ORPHA:2095 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, A... |
OMIM:245600 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Kyphoscoliosis, Micrognathia, Cox... |
ORPHA:254519 |
1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the anus, Low-set, ... |
ORPHA:1606 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Short stature, Dextrocardia, Abnormal odontoid process morpholog... |
OMIM:613686 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi... |
OMIM:617140 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... |
OMIM:600987 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Ventric... |
OMIM:174300 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypo... |
ORPHA:138 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul... |
ORPHA:2924 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil... |
ORPHA:314588 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Schisis Association |
|
Encephalocele, Omphalocele, Premature birth, Micromelia, Spina bifida, Congenital diaphragmatic h... |
ORPHA:63862 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Conductive hearing impairment,... |
ORPHA:1513 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal... |
ORPHA:958 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib... |
ORPHA:2180 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thickened nuchal skin fold, Vaginal hernia, Short statur... |
ORPHA:2916 |
Noonan Syndrome 3 |
|
Polyhydramnios, Pectus carinatum, High palate, Atrial septal defect, Left unilambdoid synostosis,... |
OMIM:609942 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee flexion contract... |
OMIM:617402 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patellar subluxat... |
ORPHA:2958 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Patent ductus arteriosus, Short thorax, S... |
OMIM:618845 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impa... |
ORPHA:894 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Wide anterior fontanel, Macroglossia, Severe postnatal growth retardation, Umbilical... |
OMIM:275100 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... |
ORPHA:1507 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Micrognathia, Secundum atrial septal defect, Long hallux, Pectus carin... |
OMIM:620194 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fet... |
OMIM:618815 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, Knee flexion contr... |
OMIM:121050 |
Neuraminidase Deficiency |
|
Inguinal hernia, Short stature, Cardiomegaly, Facial edema, Sensorineural hearing impairment, Hyd... |
OMIM:256550 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... |
ORPHA:508488 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Lymphedema, Abnormal thorax ... |
ORPHA:1318 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate... |
OMIM:612284 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Knee flexi... |
ORPHA:435638 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Missing ribs, Diastomatomyelia, Me... |
ORPHA:1759 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal d... |
OMIM:300166 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal pinna morphology, Ventricular septal defect, Polyhydramnios, Micrognathia, ... |
OMIM:236680 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th ... |
OMIM:167730 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ears, Short sta... |
ORPHA:1786 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the middle ear ossicles, Preaxial ... |
ORPHA:2549 |
Proteus Syndrome |
|
Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal lung lobation, Abnormal form... |
ORPHA:744 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Prolonged bleeding time, Toe syndactyly, Spinal dysraphism, Abnormality of bon... |
ORPHA:1114 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Scarring, Delayed eruption of primary teeth, Cryptorchidism,... |
ORPHA:90322 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Sensorineural he... |
ORPHA:3416 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Abnormal lung lobation, Cleft palate, Abnormal rib cage m... |
OMIM:217100 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Lymphatic Malformation 6 |
|
Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Atrial septal d... |
OMIM:616843 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial septal defect... |
OMIM:241310 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arteri... |
OMIM:619003 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, High palate, Ascending aortic di... |
OMIM:616166 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph... |
OMIM:617056 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Recurrent fractures, Polyhydramnios, Micrognath... |
ORPHA:1486 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Posteriorly rotated ears, Ventricular septal defect, Short stature,... |
OMIM:618454 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Short thu... |
OMIM:612561 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Short stature, Postaxial polydactyly, Mi... |
OMIM:613792 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange... |
OMIM:105650 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Abnormal ster... |
ORPHA:2990 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Decreased fetal movement, Multiple joint contractures, Camptodactyly of finger, Abnormal pleura m... |
ORPHA:2570 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial... |
ORPHA:2745 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:615108 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Premature rupture of membranes, High... |
OMIM:311900 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... |
OMIM:173900 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Abnormal cortical bone ... |
ORPHA:2097 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Hemivertebrae, ... |
OMIM:220210 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Osteopenia, Abnormally large globe, High palate, Broad ribs, Genu varum, S... |
OMIM:269300 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Petechiae, Premature birth, Polyhydramnios, Micrognathia, Cardiomegaly,... |
OMIM:608013 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Glossoptosis, High palate, Aspiration pneumonia, Conductive hearing impairment, Pat... |
ORPHA:444077 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Genu recurvatum, Hydrocephalus, Hyperostosis,... |
ORPHA:2969 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical scleros... |
OMIM:122860 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Vent... |
OMIM:618348 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Recurrent fractures, Micromelia, Cr... |
ORPHA:2772 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abnormal cardiac ve... |
ORPHA:261311 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:106260 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Congenital diap... |
ORPHA:1780 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Micrognathia, Short neck, Holoprosencephaly, Single ventricle, Microretr... |
OMIM:619879 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hydrocephalu... |
ORPHA:377 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Protruding ear |
OMIM:618737 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed... |
ORPHA:50814 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi... |
ORPHA:2972 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:615109 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped e... |
ORPHA:2399 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventricular septal defect, Hydrocephalus, Large earlobe, Polydactyly, H... |
OMIM:602501 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, High ... |
OMIM:123500 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Abnormal bleeding, Osteopenia, Posteriorly rotated ears, Ventr... |
ORPHA:79329 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Increas... |
OMIM:255320 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Cupped ear, Macrotia |
ORPHA:93945 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Telangiectasia of the sk... |
ORPHA:52 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... |
ORPHA:93315 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Pul... |
OMIM:612852 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic herni... |
ORPHA:199 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Congenital contractur... |
OMIM:248700 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Atrial septal defect, Joint laxity, Prominent metopic ridge, Arachnodactyl... |
OMIM:619721 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Single tra... |
OMIM:618950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Renpenning Syndrome |
|
Mandibular prognathia, Severe short stature, Joint stiffness, Pectus excavatum, Abnormal thumb mo... |
ORPHA:3242 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Tapered finger, Pectus excavatum, Short n... |
OMIM:607131 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... |
OMIM:619343 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Ventricular s... |
OMIM:620210 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Missing ribs, Short neck, Hyperlordosis, ... |
ORPHA:1797 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... |
OMIM:101400 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Hernia... |
ORPHA:955 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Intestinal malrotati... |
OMIM:617602 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovar... |
OMIM:601389 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect,... |
OMIM:243150 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... |
OMIM:608940 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Bicuspid aortic valve, Short... |
ORPHA:96169 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Spina bif... |
OMIM:617877 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi... |
ORPHA:1299 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Delayed skeletal matu... |
ORPHA:2475 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ear, Abnormality ... |
ORPHA:2556 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... |
OMIM:611209 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring |
OMIM:603387 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vascular dilatation, Splenomegaly, ... |
OMIM:216360 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop... |
OMIM:169400 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Cervical cord compression, Short palm, Barr... |
OMIM:607095 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Re... |
OMIM:611134 |
Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... |
ORPHA:79321 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnormal sternum morphol... |
ORPHA:93932 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Omphalocele, Asymmetry of the ears, Flexion contracture, Cleft palate, Talipes... |
OMIM:619124 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Mild postnatal gr... |
ORPHA:2136 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Severe short stature, Delayed skeletal maturation, Abnormal rib... |
ORPHA:2643 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Punctate palmar hyperkeratosis, Vertebral hyperostosis |
OMIM:106400 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation... |
OMIM:219730 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st... |
ORPHA:97360 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... |
OMIM:164210 |
Chops Syndrome |
|
Brachydactyly, Ventricular septal defect, Short stature, Tracheomalacia, High, narrow palate, Pat... |
OMIM:616368 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Short foot... |
ORPHA:250989 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Arachnodactyly, Pa... |
ORPHA:276413 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Tapered finger, Patent ductus arteriosus, Urethral stenosis,... |
ORPHA:261290 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Vater/Vacterl Association |
|
Occipital encephalocele, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, ... |
OMIM:192350 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Premature birth, Edema, Hydrops fetalis, Oligohydramnios,... |
ORPHA:79325 |
Digeorge Syndrome |
|
High, narrow palate, Abnormal thymus morphology, High palate, Short philtrum, Hypoplasia of the t... |
OMIM:188400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, Va... |
OMIM:616307 |
Amish Lethal Microcephaly |
|
Decreased fetal movement, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobi... |
ORPHA:99742 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micr... |
ORPHA:536532 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Hypopla... |
OMIM:608156 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Edema, Malabsorption, Abnormal sacroiliac joint morphology, A... |
ORPHA:793 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... |
OMIM:194190 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Recurrent respiratory infections, Vertebral fusion, Severe short stature, Short statur... |
OMIM:277300 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, High, narrow palate, High palate, Narrow chest, Scapular... |
OMIM:616914 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... |
OMIM:611773 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan... |
ORPHA:261537 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Macrotia, Patent ductus arteriosus, Cleft... |
OMIM:616462 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Short stature, Micrognathia,... |
ORPHA:1131 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Abnormal pinna morphology, Posteriorly rotated ears, ... |
ORPHA:228396 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:158350 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Vertig... |
ORPHA:268882 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Polyhydramnios, Short neck, Knee flexion contracture, H... |
OMIM:193700 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus ... |
ORPHA:363958 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217085 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ... |
OMIM:612474 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... |
OMIM:154400 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... |
ORPHA:99772 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Mec... |
OMIM:190440 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala... |
OMIM:300863 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Cleft upper lip, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Ure... |
OMIM:273395 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Short stature, Sensorineural hearing impairment, Submucous ... |
OMIM:617660 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hy... |
OMIM:300712 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r... |
ORPHA:3186 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Hypoplasi... |
OMIM:609460 |
Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... |
OMIM:273750 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation, Hepatomegaly |
OMIM:614859 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephrocalcinosis, Cholelit... |
OMIM:240300 |
Marshall Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Hypopla... |
ORPHA:560 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Omphalocele, Short stature, Spina bifida, Sudden car... |
ORPHA:991 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... |
OMIM:618955 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system, Postaxial polydactyly |
OMIM:213010 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... |
OMIM:211380 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217093 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly |
OMIM:611638 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cutaneous finger syndactyly, Conductive hearing im... |
OMIM:219000 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, High palate, Atrial septal defect, Prominent fingertip pa... |
OMIM:610443 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Polyhydramnios, Amniotic constriction ring, Conductive hearing impairment, Advanced eruption of t... |
ORPHA:2215 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Micrognathia, Postnatal growth retardation, Cryptorchidism, Oligohyd... |
ORPHA:397590 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Decreased fetal movement, Fetal akinesia sequence, Flexion con... |
ORPHA:85212 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection |
OMIM:135580 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact... |
OMIM:605627 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ... |
ORPHA:2780 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... |
OMIM:314390 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... |
OMIM:259440 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ... |
OMIM:617866 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Narrow chest, Neonatal short-limb short stature, Severe l... |
OMIM:151210 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan... |
ORPHA:2152 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:614870 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Atrial septal... |
ORPHA:500150 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Coxa vara, Pectus carinatum, High palate, W... |
ORPHA:800 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... |
OMIM:129400 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Atrial septal def... |
ORPHA:2044 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... |
OMIM:236500 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac... |
OMIM:108300 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... |
OMIM:187600 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... |
ORPHA:464329 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Pectus excavatum... |
ORPHA:1519 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... |
OMIM:619636 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... |
ORPHA:163979 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ... |
OMIM:208500 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears, Chronic o... |
ORPHA:276422 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Prematur... |
ORPHA:1208 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis |
ORPHA:2111 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Lethal Kniest-Like Dysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Atrial septal defe... |
ORPHA:2347 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Non-midline cleft lip, Abn... |
ORPHA:2075 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Vertebral segmentatio... |
OMIM:608022 |
Noonan Syndrome 13 |
|
Micrognathia, Short neck, Lymphedema, Enlarged thorax, High palate, Atrial septal defect, Joint l... |
OMIM:619087 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Diastasis recti, Limited elbow movement, Hearing impairment, Postna... |
OMIM:265050 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Cryptorchidism, Microt... |
OMIM:227330 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Ventricular septal defect, Optic nerve hypop... |
OMIM:206900 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Th... |
OMIM:615502 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Hemivert... |
OMIM:173800 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
ORPHA:94066 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Severe short stature, Short stature, Lumbar hyperlor... |
OMIM:612921 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Unila... |
OMIM:618494 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan... |
ORPHA:261552 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Atrioventricular block, Abnormal... |
ORPHA:581 |
Farber Disease |
|
Abnormality of the knee, Short stature, Abnormality of the hand, Nodular pattern on pulmonary HRC... |
ORPHA:333 |
Monosomy 18Q |
|
Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tapered finger, ... |
ORPHA:1600 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Nonimmune hydrops feta... |
OMIM:618052 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Prematu... |
ORPHA:40366 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormal mandible morphology |
ORPHA:401942 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Posteriorly rotated ears, Micrognathia, Craniosynostosi... |
ORPHA:506358 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... |
ORPHA:580 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc... |
ORPHA:101028 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorch... |
ORPHA:404440 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Emphysema, ... |
OMIM:614816 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar syn... |
OMIM:616738 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Long palm, Posteriorly rotated ears, Missing ri... |
ORPHA:2759 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Fragile X Syndrome |
|
Mandibular prognathia, Macroorchidism, postpubertal, Joint laxity, Pectus excavatum, Mitral valve... |
OMIM:300624 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Beaded ribs, Narrow chest, Conductive hearing impairment, Angulated humerus, Microret... |
OMIM:616229 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops f... |
ORPHA:834 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Hydrops fetalis, Avascular necrosis, Ab... |
ORPHA:355 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hern... |
ORPHA:261197 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo... |
OMIM:184250 |
Esophageal Atresia |
|
Bronchitis, Polyhydramnios, Clinodactyly, Abnormality of the ear, Abnormal vertebral morphology, ... |
ORPHA:1199 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f... |
OMIM:232500 |
Fraser Syndrome |
|
Anophthalmia, Abnormal lung lobation, Vertebral segmentation defect, High palate, Conductive hear... |
ORPHA:2052 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, C... |
OMIM:615633 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hypopl... |
OMIM:607014 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypop... |
OMIM:252500 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Median cleft palate |
OMIM:619452 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n... |
OMIM:616629 |
Omphalocele |
|
Omphalocele, Premature birth |
ORPHA:660 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Otitis media, Chronic ot... |
ORPHA:906 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, H... |
ORPHA:264200 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, Short neck, Congenital diaphragmatic hernia, Polyhyd... |
ORPHA:1308 |
Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural th... |
OMIM:620014 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Respiratory tra... |
ORPHA:93400 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anomalous pulm... |
OMIM:115470 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Recon Progeroid Syndrome |
|
Attached earlobe, Joint laxity, Prominence of the premaxilla, Arachnodactyly, Short stature, Prox... |
OMIM:620370 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Esophageal stenosis, Telangiectasia of the skin, Short stature,... |
ORPHA:1775 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal pinna morphology, Abnormal heart valve morphology, Short statur... |
ORPHA:228410 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Micrognathia, Short toe, Hyd... |
OMIM:617667 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... |
OMIM:616920 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Polyhydra... |
ORPHA:818 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Micrognathia, Short neck, Breech pr... |
OMIM:300868 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg... |
OMIM:153400 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... |
OMIM:122600 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Diastasis recti, Delayed closure of the anterior fontanelle, Postnatal growth reta... |
ORPHA:231140 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Hepatic fibrosis, Syndactyly, Hamartoma of tongue, Cleft upper lip... |
OMIM:311200 |
Generalized Arterial Calcification Of Infancy |
|
Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,... |
ORPHA:51608 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc... |
OMIM:614424 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Pectus excavatum, Palmar pits, Hydrocephalus, Kyphosis, Ab... |
ORPHA:77301 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel... |
OMIM:193500 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... |
ORPHA:230851 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus... |
OMIM:614576 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap... |
ORPHA:2167 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Split hand, Cl... |
OMIM:600460 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Polyhydramnios, Micrognathia, Missing ribs,... |
ORPHA:3301 |
Okamoto Syndrome |
|
Abnormally large globe, Primum atrial septal defect, Exaggerated median tongue furrow, Prominent ... |
ORPHA:2729 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... |
ORPHA:555874 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Micrognathia, Hyperlordosis, Kyphosis, Low-set ... |
OMIM:615761 |
Trisomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
Cardiospondylocarpofacial Syndrome |
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Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve pr... |
ORPHA:3238 |
Mesomelic Dysplasia, Kantaputra Type |
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Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Joubert Syndrome 7 |
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Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Transketolase Deficiency |
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Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Idiopathic Neonatal Atrial Flutter |
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Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... |
OMIM:618914 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
Birt-Hogg-Dube Syndrome 1 |
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Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... |
OMIM:135150 |
Au-Kline Syndrome |
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Vertebral segmentation defect, High palate, Clinodactyly of the 5th finger, Bifid uvula, Prominen... |
OMIM:616580 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Bilateral cryptorchidism, High, narrow palate, Atrial septal defect, Clinodactyly of the 5th fing... |
ORPHA:466791 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... |
ORPHA:2255 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Short stature, Short neck, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoospermia... |
ORPHA:2183 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Hypoplasia of the maxilla, Coronal craniosynostosis, High palate, Conducti... |
OMIM:614188 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr... |
OMIM:615398 |
Hb Bart'S Hydrops Fetalis |
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Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... |
ORPHA:163596 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
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Abnormal heart valve morphology, Delayed skeletal maturation, Disproportionate short stature, Sma... |
ORPHA:2868 |
Hurler Syndrome |
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Abnormal clavicle morphology, Short neck, Hernia, Endocardial fibroelastosis, Abnormal vertebral ... |
ORPHA:93473 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Postnatal grow... |
ORPHA:93324 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing i... |
OMIM:612938 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Cornelia De Lange Syndrome 1 |
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Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... |
OMIM:122470 |
Cockayne Syndrome Type 1 |
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Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,... |
ORPHA:90321 |
Meier-Gorlin Syndrome 7 |
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Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H... |
OMIM:117650 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp... |
ORPHA:2319 |
Fibrochondrogenesis 2 |
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Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Short neck, Cleft palate, Growth delay, Clinodactyly of t... |
OMIM:244600 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
Hydrops Fetalis |
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Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... |
ORPHA:1041 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Subaortic Stenosis-Short Stature Syndrome |
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Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Short neck, Kyph... |
ORPHA:3191 |
Chromosome 18Q Deletion Syndrome |
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Mandibular prognathia, Proximal placement of thumb, Short neck, Atrial septal defect, Conductive ... |
OMIM:601808 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Ebstein Malformation Of The Tricuspid Valve |
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Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... |
ORPHA:1880 |
Hamamy Syndrome |
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Microcytic anemia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, S... |
OMIM:611174 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Severe short stature, Rhizomelia, Craniosynostosis... |
ORPHA:2645 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abn... |
ORPHA:324410 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Classic Multiminicore Myopathy |
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Mandibular prognathia, Microretrognathia, Multiple joint contractures, Short stature, Right ventr... |
ORPHA:324604 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Anteriorly placed anus, Hi... |
ORPHA:798 |
Tarp Syndrome |
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Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe,... |
ORPHA:2886 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Short neck, Abnormal form o... |
ORPHA:233 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... |
ORPHA:436003 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Wide mouth, Abnormal car... |
OMIM:608776 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cystic Echinococcosis |
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Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Hepatic c... |
ORPHA:400 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Growth delay, Hearing i... |
ORPHA:782 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Macroglossia, Scoliosis |
OMIM:105830 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Walker-Warburg Syndrome |
|
Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Submucous cleft hard palat... |
ORPHA:899 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft... |
OMIM:157170 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... |
OMIM:601559 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... |
ORPHA:96061 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Abnor... |
OMIM:614437 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Broad hallux... |
ORPHA:353281 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Pectus exca... |
OMIM:231050 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact... |
OMIM:609008 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Extra concha fold, Micrognathia,... |
OMIM:209885 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Abnormal tibia morphology, Myelomeningocele, A... |
ORPHA:93929 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C... |
ORPHA:95699 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Joint laxity, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip... |
OMIM:619543 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Atrial septal defect, Capitate-hamate fusion, Postaxial h... |
OMIM:225500 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Abnormal tragus morp... |
ORPHA:66625 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing imp... |
ORPHA:959 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... |
OMIM:200980 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Abnormal form of the vertebral bodies, Enlarged thorax, Hernia, Chr... |
ORPHA:579 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Abnor... |
ORPHA:531151 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Anophthalmia, Large earlobe |
ORPHA:411986 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Hip dysplasia, Microphthalmia, Intrauterine growth retard... |
ORPHA:195 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia... |
OMIM:211890 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Short neck, Anteriorl... |
OMIM:305450 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Micrognathia, Premature rupture of membranes, Short phalanx of finger, Joint laxity, ... |
OMIM:225410 |
Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Micrognathia, High, narrow palate, Increased axial length of ... |
ORPHA:558 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b... |
ORPHA:93271 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Pectus carinatum, Sprengel anomaly, Severe sensorineu... |
ORPHA:500 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Posteriorly rotated ears, Microg... |
OMIM:300960 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Edema, Short neck, Polyhydramnios, Hemivertebrae, Rhizomelia, Abnormal thorax morphology, Epiphys... |
OMIM:302960 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Short neck, Hyperlordosis... |
ORPHA:710 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n... |
OMIM:113620 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis, Hearing impairment |
ORPHA:477774 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Premature rupture of... |
ORPHA:2962 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Mi... |
ORPHA:920 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hepa... |
OMIM:602579 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... |
ORPHA:83 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, Protruding ear, Abnormal s... |
ORPHA:2953 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Widely spaced teeth, High palate... |
OMIM:266920 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl... |
ORPHA:2769 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Accelerated skeletal matura... |
ORPHA:116 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353277 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Abnormal pinna morphology, Carious teeth, Conductive hearing impairment, 4-... |
OMIM:164200 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Adducted thumb |
ORPHA:89844 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial... |
ORPHA:476126 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Hypop... |
OMIM:129900 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Short stature, Absent thumb, Micrognathia, Short th... |
ORPHA:124 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Cardiofaciocutaneous Syndrome |
|
Short neck, Lymphedema, High palate, Atrial septal defect, Thickened helices, Low-set, posteriorl... |
ORPHA:1340 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod... |
ORPHA:2751 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G... |
OMIM:616145 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Kn... |
ORPHA:536545 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri... |
ORPHA:292 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Hydronephrosis, Aplasia/Hypoplasia of t... |
ORPHA:3305 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturat... |
OMIM:614857 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari... |
ORPHA:139471 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... |
OMIM:614099 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia,... |
ORPHA:2754 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Inguinal hernia, Arachnodactyly, Protruding ea... |
OMIM:615539 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Increased bone mineral density, Abn... |
ORPHA:77261 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos... |
OMIM:617088 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ... |
ORPHA:3015 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Pol... |
ORPHA:508533 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Neonatal death, Atrial septal defect, Short stature, Cryptorchidism, Hydromyelia, Scoliosis, Umbi... |
OMIM:308205 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Patent ductus art... |
ORPHA:251071 |
Thanatophoric Dysplasia, Type Ii |
|
Decreased fetal movement, Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplast... |
OMIM:187601 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia |
OMIM:211900 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho... |
OMIM:614008 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Polyhydr... |
OMIM:312870 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Knee pain, Hyperostosis, Clubbing, Periostosis |
OMIM:614441 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthro... |
ORPHA:2848 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Atrial sep... |
ORPHA:289 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Pectus carinatum,... |
OMIM:151100 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal... |
OMIM:309800 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Ventricular septal defect, Abnorma... |
ORPHA:3071 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, A... |
ORPHA:251014 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal c... |
ORPHA:166035 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... |
OMIM:244460 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Cryptorchidism, Hemiatrophy, Scoliosis, Hypophospha... |
ORPHA:2874 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... |
OMIM:119600 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Deep philtrum, Micronodu... |
OMIM:606003 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Sub... |
OMIM:222765 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, High, narrow palate, Ge... |
ORPHA:1900 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal ... |
OMIM:270400 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate,... |
OMIM:268300 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Severe short stature, Abnormal heart valve morphology... |
OMIM:309900 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd... |
ORPHA:91387 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Polyhydramnios, Late... |
OMIM:615503 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Posteriorly rotated ears, Single transverse palmar crease, Short stature, Bifid dist... |
OMIM:618419 |
Marden-Walker Syndrome |
|
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,... |
ORPHA:2461 |
Mosaic Trisomy 16 |
|
Syndactyly, Single coronary artery origin, Ventricular septal defect, Single transverse palmar cr... |
ORPHA:1708 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma... |
OMIM:239800 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmune hydrops fetalis, Sensori... |
OMIM:620167 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Short stature, Hyperlordosis, Delayed skele... |
ORPHA:3068 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Metaphyseal widening, Cranial hyperostosis, Flar... |
OMIM:123000 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Esophageal... |
OMIM:617053 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteri... |
OMIM:313850 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Metatarsus adduct... |
OMIM:214110 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormality of the philtru... |
ORPHA:1770 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal cord compression, Mandibular hyperostosis, Spinal canal stenosis, Multiple... |
OMIM:176920 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Uplifted earlobe, Ky... |
OMIM:616449 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Abnorma... |
OMIM:300968 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre... |
ORPHA:1782 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... |
ORPHA:513456 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Pectus excavatum,... |
ORPHA:1812 |
Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Mend Syndrome |
|
Micrognathia, High palate, Broad hallux, Short stature, Wide anterior fontanel, Cryptorchidism, 2... |
ORPHA:401973 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp... |
OMIM:102500 |
Loeys-Dietz Syndrome 5 |
|
Osteoarthritis, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa valga, Patent... |
OMIM:615582 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Abnormal renal ... |
ORPHA:2209 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas, Tricuspid valv... |
ORPHA:2396 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, High palate, Macrovesicular hepatic steatosis, Antenatal intr... |
OMIM:608836 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, Thin vermilion bord... |
OMIM:618829 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, O... |
OMIM:252900 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:612651 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper... |
ORPHA:64755 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p... |
ORPHA:667 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:264700 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid... |
ORPHA:1752 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Abnormal pinna morphology, Micromelia, Short neck, Craniosynostos... |
OMIM:200995 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia... |
OMIM:276820 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramn... |
ORPHA:1790 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa... |
OMIM:150230 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti... |
ORPHA:367 |
Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pectus carinatum, High palate... |
OMIM:208050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala... |
OMIM:612541 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Tibial bowing, Long hallux, Multicystic kidney dysplasia, Varicose veins, ... |
ORPHA:500095 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli... |
ORPHA:1297 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Prolonged bleeding time, Abnormal... |
ORPHA:1901 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Atrial septal defect, Arachnodactyly, Short stature, Micrognathia, Hyperlordosis, P... |
OMIM:300986 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Pectus carinatum, At... |
ORPHA:464738 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Cryptorchidism, Protruding ear, Genu valgum, Joint hyperflexibility, Umbil... |
ORPHA:1778 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectu... |
ORPHA:309282 |
Geleophysic Dysplasia 2 |
|
Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal matu... |
OMIM:614185 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Micrognathia, Abnormal rib morphology, Cleft palate, Azoospermia, Abnormality of t... |
OMIM:601076 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur... |
OMIM:259050 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... |
OMIM:618395 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Conductive hearing impairment, Clinodac... |
OMIM:611962 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3236 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding... |
ORPHA:352665 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Subdural h... |
ORPHA:79282 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Protr... |
ORPHA:319171 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Tethered cord, ... |
OMIM:258040 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mouth, Talipes eq... |
OMIM:617260 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Flexion contracture, Prematu... |
OMIM:275210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Deep p... |
OMIM:617506 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Short neck, Mitral valve prolapse, High palate, Abnor... |
ORPHA:2233 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Hypospadias, Abnormal renal collecti... |
ORPHA:17 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Joint laxity, Inguinal hernia, Genu recurvatum, Pectus excavatum, Calcaneov... |
OMIM:225320 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Micrognathia, Recurrent pneumonia, Abnormal heart morphology, High palat... |
ORPHA:314655 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Mit... |
OMIM:166200 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, Hi... |
OMIM:607932 |
Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Micrognathia, Short neck, Flexion contracture, Scoliosis, Hand clenching, Umbilic... |
OMIM:618947 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidn... |
ORPHA:96167 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Myocardial infarction, Kyphoscoliosis, Pectus excavatum, Limitat... |
OMIM:236200 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Cleft lip, Pul... |
OMIM:611812 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t... |
OMIM:617107 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Jejunal atresia, Ileal atresia, Micrognathia, Kyphoscoliosis, Cryptorchi... |
OMIM:618820 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Posteriorly rotated ears, Spina bifida, Tapered finger, Patent ductus arteriosus, ... |
OMIM:619480 |
Noonan Syndrome 2 |
|
Polyhydramnios, Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High pal... |
OMIM:605275 |
Branchiootic Syndrome |
|
Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... |
OMIM:250410 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology |
ORPHA:3222 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... |
ORPHA:73246 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Wide anterior fontanel, P... |
ORPHA:313781 |
Biemond Syndrome Type 2 |
|
Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patel... |
ORPHA:85201 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, R... |
ORPHA:2869 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Joint laxity, Hyperplasia of the maxilla |
OMIM:613671 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r... |
OMIM:618839 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ... |
ORPHA:2273 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Single transverse palmar crease, Short st... |
OMIM:148050 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Short ... |
OMIM:616202 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Nonimmune hydrops fetalis, E... |
OMIM:265300 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Posteriorly rotated ears, Short stature, Polyhydramnios, ... |
OMIM:619745 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Premature rupture of membranes, Short 4th toe, Atrial septal defect, Clinoda... |
OMIM:615873 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype... |
OMIM:618835 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ... |
OMIM:267000 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Patent ductus arteriosu... |
ORPHA:369837 |
Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Talip... |
ORPHA:573278 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Posteriorly rotated ears, ... |
ORPHA:2211 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu... |
ORPHA:2165 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ... |
OMIM:244300 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Conductive h... |
ORPHA:576 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera... |
OMIM:113650 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Hydrocephalus, Aplasia/Hypoplas... |
ORPHA:1555 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor... |
OMIM:252600 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... |
OMIM:614922 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusi... |
OMIM:612731 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Camptodactyly of finger, Micrognathia, High, ... |
ORPHA:1968 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Bell-shap... |
OMIM:615636 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauterine growth ret... |
OMIM:616910 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion... |
OMIM:212065 |
Enlarged Parietal Foramina |
|
Cleft lip, Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous ... |
ORPHA:60015 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hi... |
OMIM:616362 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus to... |
ORPHA:1666 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encepha... |
ORPHA:280195 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Anteriorly placed anus, Anotia, High palate, Narrow chest, Thickened he... |
ORPHA:3338 |
Tetrasomy 9P |
|
Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philtrum, Clino... |
ORPHA:3310 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Microtia, third degree, Aplastic z... |
OMIM:200110 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Short stature, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary t... |
ORPHA:268261 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Polyhy... |
OMIM:218040 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism, Scoliosis, Lipoma |
OMIM:612918 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Hypoplastic sacrum, Hypoplasia of the max... |
OMIM:604292 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Duodenal... |
ORPHA:2470 |
Isolated Cleft Lip |
|
Polyhydramnios, Situs inversus totalis, Conductive hearing impairment, Velopharyngeal insufficien... |
ORPHA:199302 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hy... |
ORPHA:96149 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Abnormal shoulder... |
ORPHA:2115 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatiti... |
OMIM:145001 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, M... |
OMIM:278250 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Cardiomegaly, Periorbital... |
ORPHA:904 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... |
ORPHA:289157 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Micrognathia, High palate, Atrial septal defect, Intrauterine growth ... |
OMIM:619488 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... |
OMIM:122880 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism, Hearing abnormality, Hydrocephalus, Hyperostosis |
ORPHA:3205 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Pectus excavatum, Unilateral microphthalmos, Mitral valve prolapse, Bilateral clef... |
OMIM:618874 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon... |
ORPHA:445038 |
Spondyloocular Syndrome |
|
Osteopenia, Lymphedema, Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe... |
OMIM:605822 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... |
OMIM:614294 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... |
ORPHA:1647 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneum... |
OMIM:230900 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Delayed skeletal maturation, Small hand, Abnor... |
ORPHA:488434 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Septo-optic dysplasia, A... |
ORPHA:59315 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin... |
OMIM:269500 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Ab... |
ORPHA:3145 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Irregular acetabular roof, Beaking of vertebral bodies, Thickened aortic va... |
OMIM:619698 |
Noonan Syndrome 10 |
|
Short neck, Pectus carinatum, High palate, Atrial septal defect, Short stature, Cryptorchidism, P... |
OMIM:616564 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... |
ORPHA:1662 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Short stature, Postaxial... |
OMIM:619185 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hydrocephalus, Patent ductus arteriosus... |
OMIM:104350 |
Myotubular Myopathy With Abnormal Genital Development |
|
Decreased fetal movement, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, At... |
OMIM:300219 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Mass Syndrome |
|
Arachnodactyly, Dural ectasia, Mitral valve prolapse, Pectus carinatum, Scoliosis |
OMIM:604308 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... |
ORPHA:3027 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hypoplastic aortic arch, Hip dysp... |
ORPHA:457284 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Sple... |
OMIM:235255 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A... |
ORPHA:3474 |
Faciocardiorenal Syndrome |
|
Cleft palate, Endocardial fibroelastosis, Tricuspid valve prolapse, Protruding ear |
ORPHA:1973 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula |
ORPHA:2736 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronc... |
ORPHA:1163 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Coarctation of aorta, Submucous cleft of soft ... |
OMIM:301022 |
Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Sacral dimple, Short stature, Single transverse palmar crease,... |
OMIM:619297 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, T... |
OMIM:613603 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... |
ORPHA:141099 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Fragile X Syndrome |
|
Mandibular prognathia, Joint laxity, Sinusitis, Macroorchidism, Mitral valve prolapse, Protruding... |
ORPHA:908 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Glossoptosis, Clinodactyly... |
ORPHA:2031 |
Severe Congenital Nemaline Myopathy |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Increased connective tissue, Multiple ... |
ORPHA:171430 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis |
ORPHA:88618 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Abnormal sternum morphology, Atria... |
OMIM:609192 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hepatomegaly, Aortic arch ane... |
OMIM:135500 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Sacral dimple, Inguinal hernia, Short stature, Micrognathia, S... |
ORPHA:1620 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fe... |
OMIM:137940 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri... |
ORPHA:1556 |
Central Core Disease |
|
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Fetal akin... |
ORPHA:597 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Hearin... |
OMIM:618838 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Liver abscess, Abnormal pericardium morphology, Portal hypertens... |
ORPHA:284 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Accessory spleen, Rhizomelia, Overlapping toe, Arachnoda... |
ORPHA:3379 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver... |
OMIM:271520 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Coarse metaphyseal trabecularization, Sho... |
ORPHA:2801 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy... |
OMIM:107480 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Short stature, Micrognathia, External ear malformation, Cryptorchidism, Patent duc... |
ORPHA:251066 |
Witteveen-Kolk Syndrome |
|
Glue ear, Proximal placement of thumb, Uplifted earlobe, Congenital diaphragmatic hernia, High, n... |
OMIM:613406 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Single transverse palma... |
OMIM:614866 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Renal agenesis, Absent thumb, Esophageal atresia, Pat... |
OMIM:300514 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Wide cranial sutures, Short femur, Inguinal hernia, Meta... |
OMIM:618188 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Congestive heart failure, Abnormal m... |
ORPHA:52430 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental enamel morph... |
ORPHA:3253 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial se... |
OMIM:300855 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short neck, High palate, Short palm, Duplication of the distal phalanx of hand, Dis... |
OMIM:180700 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Opsismodysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact... |
OMIM:617527 |
Monosomy 9P |
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Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Anotia, H... |
ORPHA:261112 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Multiple joint contractures, Protruding ear, Clinodactyly of the 5th finger, Abnormality of the c... |
ORPHA:464306 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Micrognathia, Preaxial polydactyly, Aplasia of the epiglottis, Anteriorl... |
OMIM:615948 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Gastrointestinal hemorrhage, Joint hypermobility, Mitral valve prolapse, Joint hyperflexibility, ... |
ORPHA:230839 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hypohidrotic Ectodermal Dysplasia |
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Hypoplasia of the maxilla, Sinusitis, Xerostomia, Abnormality of the abdominal wall |
ORPHA:238468 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Submucous cleft hard palate, D... |
OMIM:619122 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Mandibular prognathia, Sandal gap, Short stature, Malar prominence, Large earlobe, Joint hyperfle... |
ORPHA:2715 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... |
OMIM:615560 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Inguinal hernia, Ventricular septal defect, Polyhydramnios, Micrognathia, Abnormally large globe,... |
ORPHA:1655 |
Cog1-Cdg |
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Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph... |
ORPHA:263508 |
Diamond-Blackfan Anemia 11 |
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Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Short stature, Absent thum... |
OMIM:614900 |
Aymé-Gripp Syndrome |
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Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Prominent metopic ridge, Short s... |
ORPHA:1272 |
Cardiomyopathy, Dilated, 1Y |
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Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Lymphatic Malformation 5 |
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Hypoplasia of lymphatic vessels, Cleft palate |
OMIM:153200 |
Cerebellar-Facial-Dental Syndrome |
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Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Single ... |
ORPHA:444072 |
Hydrolethalus Syndrome 2 |
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Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Bor Syndrome |
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Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Meester-Loeys Syndrome |
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Joint dislocation, Arachnodactyly, Short stature, Mitral valve prolapse, Cervical spine instabili... |
OMIM:300989 |
Ebstein Anomaly |
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Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Fontaine Progeroid Syndrome |
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Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th... |
OMIM:612289 |
Familial Multiple Lipomatosis |
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Bowing of the long bones, Lipodystrophy, Accelerated skeletal maturation, Increased adipose tissu... |
ORPHA:199276 |
Laurence-Moon Syndrome |
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Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Brittle Cornea Syndrome 1 |
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Joint laxity, Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Scoli... |
OMIM:229200 |
Mitral Valve Prolapse 1 |
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Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, Mitral valve prola... |
OMIM:157700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Penile Agenesis |
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Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis... |
ORPHA:49 |
Klippel-Trenaunay-Weber Syndrome |
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Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula, Lymphangioma |
OMIM:149000 |
Prolidase Deficiency |
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Recurrent respiratory infections, Arachnodactyly, Hearing impairment, Micrognathia, Carious teeth... |
ORPHA:742 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cleft palate, Renal cyst, Micropenis, ... |
OMIM:257300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
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Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag... |
OMIM:614749 |
Loeys-Dietz Syndrome 3 |
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Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... |
OMIM:613795 |
Chromosome 17Q12 Deletion Syndrome |
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Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ... |
ORPHA:2519 |
Halperin-Birk Syndrome |
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Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat... |
OMIM:618651 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger... |
ORPHA:464 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Patent f... |
OMIM:619127 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Bila... |
ORPHA:544488 |
Congenital Contractural Arachnodactyly |
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Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Joint... |
ORPHA:115 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... |
OMIM:609015 |
Robinow Syndrome, Autosomal Dominant 2 |
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Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Oculocerebrorenal Syndrome Of Lowe |
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Mandibular prognathia, Micrognathia, Dehydration, Protruding ear, Chronic otitis media, Low-set, ... |
ORPHA:534 |
Rabson-Mendenhall Syndrome |
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Mandibular prognathia, Atrial septal defect, Reduced subcutaneous adipose tissue, Ventricular sep... |
ORPHA:769 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... |
ORPHA:1506 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
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Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Bardet-Biedl Syndrome 1 |
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Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid... |
OMIM:209900 |
Neurofibromatosis, Type I |
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Short stature, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudar... |
OMIM:162200 |
Mckusick-Kaufman Syndrome |
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Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... |
OMIM:236700 |
Okur-Chung Neurodevelopmental Syndrome |
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Inguinal hernia, Broad hallux, Single transverse palmar crease, Polyhydramnios, Micrognathia, Pro... |
OMIM:617062 |
Ulbright-Hodes Syndrome |
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Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Multiple renal cysts, Renal cyst |
OMIM:614883 |
Capillary Malformation-Arteriovenous Malformation |
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Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart... |
ORPHA:137667 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Short stature, Patent du... |
OMIM:602782 |
Cardiomyopathy, Dilated, 2E |
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Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... |
ORPHA:227990 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d... |
ORPHA:857 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Joubert Syndrome 39 |
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Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxi... |
OMIM:619562 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size |
ORPHA:3044 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Atrial septal defect, Multicystic kidney dysplasia, Abnormal lung lobation,... |
ORPHA:1052 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Disproportionate sh... |
OMIM:608681 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Atrial septal de... |
ORPHA:363700 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava... |
ORPHA:555877 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Cryptorchidism, Umbil... |
ORPHA:2241 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
15q26 overgrowth syndrome |
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Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... |
DECIPHER:81 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde... |
ORPHA:79404 |
Phelan-Mcdermid Syndrome |
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Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi... |
OMIM:606232 |
Limb-Mammary Syndrome |
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Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ... |
ORPHA:69085 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Periorb... |
OMIM:613177 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... |
ORPHA:79303 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl... |
OMIM:610199 |
Mucopolysaccharidosis, Type Iiid |
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Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Cryptorchidism, Split hand, Abn... |
ORPHA:1300 |
Cardiac Valvular Dysplasia, X-Linked |
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Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne... |
OMIM:314400 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Thin ve... |
OMIM:619869 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Ventricular septal defect, Hypospadias, Cleft lip, Patent ductus arteriosus, Vesicour... |
OMIM:616975 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption... |
ORPHA:912 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Orofaciodigital Syndrome X |
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Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Lethal Congenital Contracture Syndrome 9 |
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Polyhydramnios, Micrognathia, Flexion contracture, Congenital contracture, Wrist flexion contract... |
OMIM:616503 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Mic... |
OMIM:613884 |
Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Short s... |
ORPHA:404448 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... |
OMIM:618161 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, H... |
ORPHA:2578 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Fetal peric... |
OMIM:620244 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-... |
ORPHA:228308 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... |
ORPHA:227982 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,... |
ORPHA:110 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Wide anterior fontanel, Hypertrophic cardiomyopathy, Short stature, Hydrops fetalis |
OMIM:613673 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Ventricular septal defect, Short stature, Micrognathia, Congenital diap... |
OMIM:613309 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Inguinal hernia, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microph... |
ORPHA:2250 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Cleft palate, Mitr... |
ORPHA:90354 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Premature rupture of... |
ORPHA:2834 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Hartsfield Syndrome |
|
Syndactyly, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Cryptorchidism,... |
OMIM:615465 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Cryptorchidism, Hydrocephalus, Abnorma... |
ORPHA:322 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Ebstein anomaly of the tricuspid valve, Anteriorly placed anus, Rectova... |
OMIM:608980 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni... |
OMIM:243910 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov... |
OMIM:252930 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... |
ORPHA:97362 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Protruding ear, Panniculitis, Chylothorax,... |
ORPHA:2526 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Decreased fetal movement, Rectal prolapse, Hypoplastic facial bones, Overtubul... |
OMIM:619793 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Hypoplasia of ... |
OMIM:118450 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Polyhydramnios, Cryptorchidism, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Cardiomegaly, Joint stiffness, Recurrent upper respiratory tract infections, Ovoi... |
OMIM:252920 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... |
ORPHA:93941 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... |
OMIM:280000 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, High... |
OMIM:218330 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Single transverse palmar crease, Myocardial infarction, Cranial hyperostosis, Hip ... |
ORPHA:457240 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Malar prominence, High-output congestive heart failure, Dilated cardiom... |
ORPHA:231226 |
Toluene Embryopathy |
|
Short stature, Micrognathia, Tapered finger, Cryptorchidism, Protruding ear, Hypoplasia of the zy... |
ORPHA:1920 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Pat... |
ORPHA:464311 |
2P15P16.1 Microdeletion Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing... |
ORPHA:261349 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Clubbing of fingers, Abnormal umbilica... |
ORPHA:335 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Dilation of Virchow-Robin spaces, Cleft upper lip, Preaxial polydactyly, Preaxial foo... |
OMIM:603671 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neonatal short-limb sh... |
OMIM:250250 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly |
OMIM:119580 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Atrial septal defect, Conductive hearing impa... |
OMIM:136140 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer... |
ORPHA:436252 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, A... |
ORPHA:95706 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... |
ORPHA:1454 |
3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney, Radioulnar syn... |
OMIM:248340 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Pre... |
OMIM:243605 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpa... |
ORPHA:1295 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Abnormalit... |
ORPHA:538 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Prominent interphalangeal joint... |
OMIM:135900 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Short stature, Coxa valga, Accelerated skeletal maturation, Flar... |
ORPHA:370930 |
Trisomy 10P |
|
Thumb contracture, Absent gallbladder, Abnormality of the kidney, Abnormality of the hand, Short ... |
ORPHA:171929 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Short stature, Micrognathia, Hydrocephalus, Cranial hyperostosis,... |
OMIM:259720 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,... |
OMIM:191100 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Hyperkeratosis ... |
OMIM:153100 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Patent ductus a... |
ORPHA:33001 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Trismus, A... |
ORPHA:2907 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous... |
OMIM:175050 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss... |
OMIM:213300 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr... |
OMIM:600145 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Lobar holoprosencephaly, Growth delay, Microtia, Hypoplasia of ... |
OMIM:618500 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microphthalmia, 3-4... |
OMIM:615877 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Malar prominence, High-output congestive heart failure, Dilated cardiom... |
ORPHA:231214 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Short stature |
ORPHA:2835 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Thickened nuchal skin fold, Angina ... |
ORPHA:758 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W... |
ORPHA:709 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Narrow chest, Small... |
OMIM:264090 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Split hand, Cholestasis, Renal cyst, Hammertoe, High palate, Talipes ... |
OMIM:261515 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal... |
OMIM:619471 |
Legius Syndrome |
|
Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Mitral valve prolaps... |
ORPHA:137605 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Kyphosis,... |
OMIM:177850 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Scapular winging, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal h... |
ORPHA:26791 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyur... |
ORPHA:449395 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, 2... |
OMIM:620025 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Pearson Syndrome |
|
Hearing impairment, Cardiac conduction abnormality, Postnatal growth retardation, Hydrops fetalis... |
ORPHA:699 |
Joubert Syndrome 2 |
|
Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, High pal... |
OMIM:608091 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... |
ORPHA:3003 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Congenital hip dislocation, Premature rupture of membranes, Joint ... |
OMIM:225400 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... |
ORPHA:805 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Single umbilical artery, Narrow chest... |
OMIM:182210 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, High palate, Hypopla... |
ORPHA:556955 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Short stature, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal scl... |
OMIM:260400 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Mild postnatal growth retardation, Hydrops fetalis |
OMIM:224120 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... |
ORPHA:157 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ... |
ORPHA:480880 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Renal c... |
ORPHA:137675 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha... |
OMIM:613254 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Short stature, Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carrying ... |
OMIM:247410 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Hearing imp... |
OMIM:239100 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Pectus excavatum, Mitral val... |
ORPHA:171881 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu... |
OMIM:130050 |
Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Increased mean platele... |
OMIM:222470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Breech presentation, Int... |
OMIM:615824 |
Lumbar Syndrome |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia |
ORPHA:83628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Malar flattening, Tapered finger, Hyperlordosis, Hip dislocation, Cleft... |
OMIM:301066 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:614862 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Osteopenia, Erythrodontia, Scarring, Edema, Nonimmune hydrops fetalis, Scarrin... |
ORPHA:95159 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Bradycar... |
OMIM:617397 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of... |
ORPHA:480520 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Prominent metopic ridge, Diastasis recti, Cardiomegaly, Accelerated skeletal maturat... |
OMIM:130650 |
Familial Tumoral Calcinosis |
|
Hyperostosis, Bone pain |
ORPHA:53715 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Hydrocephalus, Vasculitis, Osteolysis, Abnormal long bone... |
ORPHA:228123 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypoplasia of the maxilla, Taurodontia |
OMIM:305100 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal bleeding, Gastritis, Vasculitis, Hydrops fetalis, Arthritis, Colitis, Panniculitis, Pulm... |
ORPHA:3261 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Cl... |
OMIM:194050 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Macroorchidism, Abnorma... |
ORPHA:93 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Dextrocardia, Short hallux, Micrognathia, Intestinal malrotation, Paten... |
OMIM:620305 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Joint laxity, Mitral valve prolapse, Hypertension, Scoliosis, Recurrent ot... |
ORPHA:449291 |
Pseudohypoparathyroidism Type 1A |
|
Short neck, Short metatarsal, Reduced bone mineral density, Broad distal phalanx of the thumb, Sh... |
ORPHA:79443 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Prolonged prothrombin time, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... |
OMIM:184253 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Hydrocele testis... |
OMIM:607823 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Short stature, Increased inte... |
OMIM:619727 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Alstrom Syndrome |
|
Short stature, Abnormality of the hand, Accelerated skeletal maturation, Congestive heart failure... |
OMIM:203800 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Osteopenia, Erythrodontia, Scarring, Edema, Increased connective tissue, Nonim... |
ORPHA:79277 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Cranium bifidum occultum, Malar flattening, Microphthalmia, Bifid uvula... |
OMIM:229400 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Isolated Exencephaly |
|
Polyhydramnios, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Hypoplasia ... |
ORPHA:563612 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Narro... |
OMIM:619268 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri... |
ORPHA:552 |
Semilobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract... |
ORPHA:93924 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Microphthalmia, Mild short... |
OMIM:614833 |
Immunodeficiency 96 |
|
Recurrent lower respiratory tract infections, Increased proportion of gamma-delta T cells, Increa... |
OMIM:619774 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:881 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Pal... |
ORPHA:100078 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Mitral valve prolapse, Atr... |
OMIM:606408 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte... |
OMIM:100300 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Ventricular septal defect, Accessory oral frenulum, Hamart... |
ORPHA:434179 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Protruding ea... |
ORPHA:286 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased fetal movement, Polyhydramnios, Flexion contracture, Subdural hemorrhage, Retinal hemor... |
OMIM:615368 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Hypoplasia of the iris, Aniridia, Anal ... |
OMIM:180500 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
Lead Poisoning |
|
Delayed eruption of teeth, Premature birth, Delayed skeletal maturation, Cranial hyperostosis, Ol... |
ORPHA:330015 |
Galactosialidosis |
|
Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hearing impairment |
OMIM:256540 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carci... |
OMIM:193300 |
Dahlberg-Borer-Newcomer Syndrome |
|
Short stature, Lymphedema, Mitral valve prolapse, Short distal phalanx of finger, Brachydactyly |
ORPHA:1563 |
Choanal Atresia |
|
Recurrent respiratory infections, Craniosynostosis, Polydactyly, Tracheomalacia, Chronic sinusitis |
ORPHA:137914 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Eso... |
ORPHA:2908 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis |
OMIM:266200 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Underdeveloped superior crus of antihe... |
ORPHA:369950 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Renal hamartoma, Nephrolithiasis, R... |
ORPHA:99880 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Micrognathia,... |
ORPHA:2785 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Decreased fetal movement, Polyhydramnios, Cryptorchidism... |
ORPHA:169189 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Renal hamartoma, Nephrolithiasis, R... |
ORPHA:143 |
Oculotrichoanal Syndrome |
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Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Niemann-Pick Disease Type C |
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Fetal ascites, Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Hy... |
ORPHA:646 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Osteopenia, Carious teeth, Delayed skeletal maturation, Steatorrhea, Calvarial hyperostosis |
OMIM:612714 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Pearson Marrow-Pancreas Syndrome |
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Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Steatorrhea |
OMIM:557000 |
17Q12 Microdeletion Syndrome |
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Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea... |
ORPHA:261265 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Osteopenia, Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Delayed skeletal m... |
ORPHA:95494 |
Hyperostosis Cranialis Interna |
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Abnormal vestibular function, Sensorineural hearing impairment, Osteosclerosis of the base of the... |
OMIM:144755 |
Isolated Posterior Meningocele |
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Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... |
ORPHA:268810 |
Hereditary Elliptocytosis |
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Postnatal growth retardation, Hydrops fetalis |
ORPHA:288 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Atresia Of External Auditory Canal And Conductive Deafness |
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Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology, Edema |
ORPHA:97330 |
Retinitis Pigmentosa 74 |
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Abnormal renal morphology, Polydactyly |
OMIM:616562 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Recur... |
OMIM:612301 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
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Natal tooth, Cranial hyperostosis, Short stature |
OMIM:601345 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Multiple renal cysts, Wrist flexion contracture, ... |
OMIM:618733 |
Caffey Disease |
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Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops... |
OMIM:602522 |
Neuroendocrine Neoplasm Of Appendix |
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Mechanical ileus, Tricuspid stenosis, Midgut malrotation, Heart murmur, Palpitations, Hypotension... |
ORPHA:100079 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ... |
ORPHA:3427 |
Tooth Agenesis, Selective, X-Linked, 1 |
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Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Osteopetrosis, Autosomal Recessive 3 |
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Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Omphalocele, Scoliosis, Anal atresia |
ORPHA:3164 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... |
OMIM:235730 |
Congenital Disorder Of Glycosylation, Type If |
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Thin vermilion border, Renal cortical cysts |
OMIM:609180 |
Renal, Genital, And Middle Ear Anomalies |
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Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Mpdu1-Cdg |
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Thin vermilion border, Renal cortical cysts |
ORPHA:79323 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Pontine Tegmental Cap Dysplasia |
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Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hepatomegaly, Preaxial polydactyly |
ORPHA:163681 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Thin upper lip vermilion, Renal cortical cysts, Downturned corners of mouth, Long philtrum, Vesic... |
OMIM:618548 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Back pain, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Capillary leak, Intracranial he... |
ORPHA:340 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Ghosal Hematodiaphyseal Dysplasia |
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Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Tented philtrum, Renal cyst, Anteriorly placed anus, Long philtrum |
ORPHA:495875 |
Tukel Syndrome |
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Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Pericarditis, Tachycardia, Back pain, Excessive bleeding after a venipu... |
ORPHA:99826 |
Congenital Fibrosis Of Extraocular Muscles |
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Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Hand oligodactyly |
ORPHA:45358 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal maturation, Hypoplasia of t... |
ORPHA:64 |
Microtia With Meatal Atresia And Conductive Deafness |
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Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Pmm2-Cdg |
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Thin upper lip vermilion, Pericarditis, Proteinuria, Impaired neutrophil chemotaxis, Pericardial ... |
ORPHA:79318 |
Leber Congenital Amaurosis |
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Encephalocele |
ORPHA:65 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Retinitis Pigmentosa |
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Conductive hearing impairment, Sensorineural hearing impairment, Abnormal testis morphology, Atyp... |
ORPHA:791 |
Retinitis Pigmentosa 80 |
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Cone-shaped epiphyses of the phalanges of the hand |
OMIM:617781 |