Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Abnormal rib morphology, Rhizomelia, Abnormal epiphysis morphology, Bowing of the l... |
ORPHA:93267 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, Amelia, Pulmonary hy... |
OMIM:601163 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad nasal tip, Micrognathia, Brachydactyly, Camptodactyly, Mesomelia, Short nose, Broad thumb, ... |
OMIM:618529 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Short nose, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Posterior... |
OMIM:228520 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Multiple rib fractures, Micrognathia, Micromelia, Femoral hernia, Short nose... |
ORPHA:93299 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Micrognathia, Micromelia, Abnormal rib morphology, Femoral hernia, Short nos... |
ORPHA:93298 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Pulmonary hypoplasia, Omphalocele, Overriding aorta, Intrauterine grow... |
OMIM:617022 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic... |
OMIM:263210 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Um... |
OMIM:616145 |
Achondrogenesis |
|
Inguinal hernia, Micrognathia, Micromelia, Abnormality of bone mineral density, Short nose, Umbil... |
ORPHA:932 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... |
OMIM:118651 |
Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Rhizomelia, Talipes equinovarus, Omphalocele |
ORPHA:85174 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... |
ORPHA:3304 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Overridin... |
OMIM:601927 |
Miller-Dieker Syndrome |
|
Anteverted nares, Short nose, Clinodactyly of the 5th finger, Omphalocele |
ORPHA:531 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... |
OMIM:616809 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Abnormal metacarpal ... |
ORPHA:2370 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... |
OMIM:300863 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Depressed nasal bridge, Hypoplastic ilia, Short ... |
OMIM:617895 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Omphalocele, Broad distal phalanx of ... |
OMIM:311300 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Metatropic Dysplasia |
|
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... |
ORPHA:2635 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Omphalocele, Lower limb und... |
OMIM:236640 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Depressed nasal bridge, Death in childhood, Metaphyseal widening, Brachydactyly, Limb... |
OMIM:618961 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly... |
OMIM:618618 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cor pulmonal... |
OMIM:263000 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge, Omphalocele |
ORPHA:1906 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
C Syndrome |
|
Dislocated radial head, Micrognathia, Micromelia, Fused sternal ossification centers, Ulnar devia... |
OMIM:211750 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Depressed nasal bridge, Mi... |
OMIM:256050 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Micrognathia, Hernia of the abdominal wall, Brachydactyly, Mesomelia, Abnorma... |
ORPHA:1277 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Fibrochondrogenesis |
|
Wide anterior fontanel, Short ribs, Depressed nasal bridge, Camptodactyly of finger, Brachydactyl... |
ORPHA:2021 |
Acromicric Dysplasia |
|
Joint stiffness, Bulbous nose, Abnormality of femur morphology, Fifth metacarpal with ulnar notch... |
ORPHA:969 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... |
ORPHA:1686 |
Fetal Encasement Syndrome |
|
Lower limb undergrowth, Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele |
OMIM:613630 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Flexion contracture, Inguinal hernia, Thin ribs, Depressed nasal bridge, Microgn... |
OMIM:608149 |
Distal Trisomy 15Q |
|
Joint stiffness, Arachnodactyly, Micrognathia, Camptodactyly of finger, Omphalocele, Prominent na... |
ORPHA:1707 |
Acalvaria |
|
Omphalocele, Abnormal lung lobation |
ORPHA:945 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy, Pneumonia |
OMIM:215030 |
Non-Syndromic Metopic Craniosynostosis |
|
Wide nasal bridge, Omphalocele |
ORPHA:3366 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Abnormality of the abdominal wall, Metaphyseal cupping, Severe limb shortening, Thin ribs, Decrea... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Upper limb... |
ORPHA:93351 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Broad-based gait, Bicuspid aortic valve, Atrial septal defect, Ven... |
ORPHA:477817 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Femoral bowing, Congenital hip disloc... |
OMIM:304120 |
Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Clinodactyly, Short foot |
OMIM:300577 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscular ventricular septal... |
OMIM:115197 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... |
ORPHA:1423 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ge... |
ORPHA:166002 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Abnormality of the abdomina... |
OMIM:602557 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Square pelv... |
ORPHA:166272 |
Developmental And Epileptic Encephalopathy 73 |
|
Inguinal hernia, Flexion contracture, Narrow nasal bridge, Short nose, Hip dysplasia |
OMIM:618379 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormality of limb bone morphology, Limb undergrowth, Abnormal c... |
ORPHA:2204 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Depressed nasal bridge, Wide anterior fontanel, Umbilical hernia, Omphalocele |
OMIM:275100 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Depressed nasal bri... |
ORPHA:93329 |
17Q21.31 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Short nose, Sandal gap, Anteverted nares, Toe synda... |
ORPHA:217340 |
Rhiny |
|
Anteverted nares, Short nose, Inguinal hernia |
OMIM:180360 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Micromelia, Short nose, Pul... |
OMIM:200600 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Short ribs, Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral... |
OMIM:600972 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short ribs, Bilateral talipes eq... |
OMIM:269250 |
Kyphomelic Dysplasia |
|
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Large hands, Miss... |
ORPHA:1801 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
Monosomy 5P |
|
Recurrent fractures, Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand, Abnormali... |
ORPHA:281 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... |
OMIM:616749 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Short nose, Genu valgum, Short ... |
OMIM:614078 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... |
ORPHA:93296 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Craniosynostosis, Micrognathia, Brachydactyly, Micromelia, Abnormal rib morph... |
ORPHA:2145 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Sagittal craniosy... |
OMIM:201000 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Omphalocele |
OMIM:258320 |
Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Short nose, Pulmonary hypoplasia, Bowing of the long bones, Omphalocele, ... |
ORPHA:90652 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis |
OMIM:190440 |
Astley-Kendall Dysplasia |
|
Micromelia, Epiphyseal stippling |
ORPHA:85175 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lung lobation, Abnormal metacarpa... |
ORPHA:2631 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose |
OMIM:125700 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... |
OMIM:601612 |
Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Depressed nasal bridge, Small hand, Micrognathia, Short nose, Sagittal ... |
OMIM:145420 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Pulmonary hypoplasia, Small epiph... |
OMIM:184260 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia |
OMIM:218010 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal... |
ORPHA:93430 |
Diastrophic Dysplasia |
|
Joint stiffness, Hypoplastic cervical vertebrae, Increased bone mineral density, Depressed nasal ... |
ORPHA:628 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... |
ORPHA:439 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Small hand, Narrow nose, Short phalanx of finger, Limited elbo... |
OMIM:180870 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Scarring, Coxa valga, Hiatus hernia, Inguinal hernia, Depressed nasal... |
ORPHA:1901 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short toe, Short phalanx of finger, Tapered finger, Camptodactyly, Long fingers, Sh... |
OMIM:613458 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... |
ORPHA:2639 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Cardiomegaly, Double outle... |
OMIM:306955 |
Ollier Disease |
|
Joint stiffness, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal metaphysis morph... |
ORPHA:296 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Congenital diaphragmatic hernia, Depressed nasal bridge, Short nose, Omph... |
ORPHA:2143 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Perimembranous ventricular septal defect, Camptodactyly, Muscula... |
OMIM:618804 |
Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Micr... |
OMIM:601561 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Flexion contracture, Inguinal he... |
ORPHA:254528 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares |
OMIM:614069 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... |
OMIM:616897 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Myocardial fibrosis, Oxygen desaturation on ... |
ORPHA:2302 |
Pallister-Hall-Like Syndrome |
|
Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polydactyly, Short n... |
OMIM:241800 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... |
OMIM:251450 |
Kniest Dysplasia |
|
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Inguinal hernia, Trac... |
OMIM:156550 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... |
ORPHA:1240 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Narrow nose, Micromelia, Limb underg... |
OMIM:269870 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Depressed nasal bridge, Micromelia, Neonatal death, Camptodactyly, Short nos... |
OMIM:610015 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Cyanosis, Chylopericardium, Pleural effusion |
ORPHA:2414 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Talipes equinovarus, Inguinal hernia, Recurrent upper respiratory tract infections, Congenital hi... |
OMIM:300209 |
Mosaic Trisomy 1 |
|
Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Pulmonary hypoplasia, Complet... |
ORPHA:1692 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... |
OMIM:617478 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short nose, Short long bone |
ORPHA:221054 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta, Intrauterine growt... |
ORPHA:1110 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
Thoracomelic Dysplasia |
|
Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Abnormal pelvic gird... |
ORPHA:1803 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Omphaloce... |
OMIM:265380 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, ... |
OMIM:302950 |
Opsismodysplasia |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Depressed nasal bri... |
ORPHA:2746 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Hypoplastic pelvis, R... |
OMIM:616300 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Absent bronchoalveolar surfactant-protein C, Nodular pattern on ... |
OMIM:610921 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intrauterine growth retardation, Death in childhood, Ventricular septal defect, Enamel hypoplasia... |
OMIM:243150 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... |
ORPHA:3426 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fontanel, Increa... |
ORPHA:163649 |
Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Hypoxemia, Cyanosis, Dextrocardia... |
ORPHA:2257 |
Focal Dermal Hypoplasia |
|
Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, Omphalocele, Diastasis recti... |
ORPHA:2092 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Short humerus, ... |
OMIM:250215 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Hypoplasia of the radius, Depresse... |
ORPHA:950 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Ventricular septal defect, Omphalocele, Umbilical hernia, Abnormal heart morphology |
ORPHA:254534 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Pulmonary hypoplasia, Transposit... |
OMIM:313850 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Desquamative interstitial pneumonitis, Cyanosis, Intraalveolar ph... |
OMIM:265120 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Depressed nasal ridge, Short ribs, Microm... |
ORPHA:1842 |
Developmental And Epileptic Encephalopathy 89 |
|
Talipes equinovarus, Microretrognathia, Flexion contracture, Depressed nasal bridge, Death in chi... |
OMIM:619124 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Convex n... |
OMIM:250230 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... |
ORPHA:371428 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sciatic notch, Sho... |
ORPHA:168549 |
Femoral-Facial Syndrome |
|
Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Sho... |
ORPHA:1988 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy... |
ORPHA:1335 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... |
ORPHA:1350 |
Trisomy 1Q |
|
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Campt... |
ORPHA:261344 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Depressed nasal ridge, Overlapping fingers, Micromelia, Camptodact... |
OMIM:601016 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Depressed nasal bridge, Micrognathia, Short nose, Joint hyperflexibility |
ORPHA:1695 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short metacarpal |
OMIM:611263 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Beaded ribs, Convex nasal ridge, Thin ribs, Limb undergrowth,... |
OMIM:166210 |
17P13.3 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Congenital hip dislocation, Wide nose, Short nose |
ORPHA:217385 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Depressed nasal bridge... |
OMIM:614732 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Deviation of finger |
ORPHA:1450 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Depressed nasal bridge, Brachydactyly, Bowing of the long bones, Acromesomelia, ... |
ORPHA:40 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis morphology, Abnormal metap... |
ORPHA:177 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... |
ORPHA:363444 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Micrognathia, Camptodactyly of finger, Short nose, Recurrent pneumonia, Death in infancy |
ORPHA:1495 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Omphalocele |
OMIM:601357 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Thin ribs, Micrognathia, Metaphyseal cupping of metacarpals, Abnormality o... |
ORPHA:163966 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Depressed nasal bridge, Micrognathia, Radioulnar synostosis, Short nose, Bowing... |
ORPHA:171839 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices |
OMIM:122900 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... |
ORPHA:79126 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Talipes equinovarus, Prune belly, Cervical ribs, Omphalocele, Preaxial hand polydactyly |
OMIM:601389 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Short metacarpal, Abnormally... |
ORPHA:1427 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Short nose, Pulmonary hypoplasia, Ompha... |
OMIM:200995 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:277440 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Omphalocele |
OMIM:614450 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Knee osteoar... |
ORPHA:93284 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Choreoathetosis, Lethargy, Cyanosis |
ORPHA:71277 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Arachnodactyly, Emphysema, Hip dislocation,... |
ORPHA:171719 |
Jeune Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morpho... |
ORPHA:474 |
Codas Syndrome |
|
Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxity, Depressed ... |
OMIM:600373 |
Hypochondroplasia |
|
Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly, Genu varum, Micromelia... |
ORPHA:429 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ... |
OMIM:215140 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Depressed nasal bridge, Clinodac... |
ORPHA:96334 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... |
OMIM:620067 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... |
OMIM:613073 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Miscarriage, Limitation of joint mobility, Talipes equinovarus, Flexion contr... |
ORPHA:1865 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Micrognathia, Hypoplasti... |
OMIM:614524 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short sternum, Congenital diaphragmatic hernia, Broad nasal tip, Depresse... |
OMIM:222448 |
Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short toe, Inguinal hernia, Short ribs, Bowing of the arm, Brachydactyly, Neo... |
OMIM:269860 |
Mesomelia-Synostoses Syndrome |
|
Joint stiffness, Bulbous nose, Abnormality of femur morphology, Convex nasal ridge, Clinodactyly ... |
ORPHA:2496 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Cyanosis, Right aortic... |
ORPHA:980 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
Alg12-Cdg |
|
Abnormal adipose tissue morphology, Muscular ventricular septal defect, Camptodactyly, Biventricu... |
ORPHA:79324 |
Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Convex nasal ridge, Inguinal hernia, Small hand, Cone-shaped epip... |
ORPHA:3121 |
Mietens Syndrome |
|
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Short nose, Rhizomelia,... |
OMIM:108720 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... |
OMIM:117550 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosis of carpal bones, Abnormality ... |
ORPHA:1836 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Arachnodactyly, Micromelia, Genu valgum, Sandal gap, Umbilical hernia, Anteve... |
ORPHA:1035 |
Achondroplasia |
|
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... |
ORPHA:15 |
Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long b... |
ORPHA:1505 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... |
ORPHA:1508 |
Blomstrand Lethal Chondrodysplasia |
|
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Short ribs, Depr... |
ORPHA:50945 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Dilated cardiomyopathy, Intrauterine growth retardation, Muscular ventricular septal defect |
ORPHA:66634 |
Diaphanospondylodysostosis |
|
Talipes equinovarus, Depressed nasal ridge, Tracheomalacia, Inguinal hernia, Depressed nasal brid... |
OMIM:608022 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Pericardial effusion, Pleu... |
ORPHA:199241 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal rib morphology, Missing ribs, Omphalocele... |
ORPHA:1834 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Recurrent upper respiratory tract infections, Cyanosis, D... |
ORPHA:95430 |
Marshall-Smith Syndrome |
|
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... |
OMIM:602535 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... |
ORPHA:1529 |
Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Clinodactyly of the 5th finger, Joint contracture of the hand,... |
OMIM:247200 |
Chromosome 9P Deletion Syndrome |
|
Inguinal hernia, Clinodactyly of the 4th toe, Depressed nasal bridge, Micrognathia, Tapered finge... |
OMIM:158170 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Depressed nasal bridge, Micromelia, Short nose, Hip subluxation, Posterior rib cup... |
OMIM:271665 |
Alg9-Cdg |
|
Depressed nasal bridge, Lipodystrophy, Short nose, Rhizomelia, Pulmonary hypoplasia, Omphalocele,... |
ORPHA:79328 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Osteopenia, Depressed nasal bridge, Femoral bowing, Short femo... |
OMIM:616723 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short toe, Wide anterior fontanel, Inguinal hernia, Osteopenia, Micrognathia, Micromelia, Short p... |
OMIM:225410 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Micrognathia, Brachydactyly, Short phalanx of finger, Syndactyly, Camptod... |
OMIM:616894 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... |
OMIM:608978 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Short ribs, Depressed nasal bridge, Iliac crest serration, Micromelia, Hypop... |
OMIM:613320 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, In... |
OMIM:184250 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supination, Pulmo... |
ORPHA:401935 |
Schisis Association |
|
Micromelia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... |
ORPHA:93160 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Pneumonia, Hypoxemia, Lung abscess, Recurrent ... |
OMIM:610910 |
Kennerknecht syndrome |
|
Toe clinodactyly, Convex nasal ridge, Omphalocele, Acetabular dysplasia, Toe syndactyly |
OMIM:600908 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Chung-Jansen Syndrome |
|
Micrognathia, Tapered finger, Short nose, Clinodactyly, Joint hypermobility, Anteverted nares |
OMIM:617991 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Depresse... |
ORPHA:457395 |
Osteoglophonic Dysplasia |
|
Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short nose, Rhizomelia, Bowing of the lo... |
OMIM:166250 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Depressed nasal bridge, Micrognathia, Short nose, Toe syndactyly |
ORPHA:261120 |
Osteopathia Striata With Cranial Sclerosis |
|
Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... |
OMIM:300373 |
Pagod Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Situs inver... |
ORPHA:991 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Bowing of the legs, Limited elbow extension |
ORPHA:156728 |
Al-Raqad Syndrome |
|
Brachydactyly, Sandal gap, Short nose, Joint laxity |
OMIM:616459 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
OMIM:309350 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Convex nasal ridge, Hypoplasia of the radius, Synostosis of ca... |
ORPHA:3258 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypopla... |
ORPHA:887 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Metaphyseal cupping, Craniosynostosis, Short ribs, Decreased calvarial ossifi... |
OMIM:241500 |
Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Choanal atresi... |
ORPHA:1914 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnorma... |
ORPHA:2059 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Microretrognathia, Multiple rib fractures, Osteopenia, Decreased calvarial o... |
OMIM:616229 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Emphyse... |
ORPHA:436 |
Constricting Bands, Congenital |
|
Bladder exstrophy, Ectopia cordis, Abnormal lung lobation, Omphalocele, Gastroschisis |
OMIM:217100 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Depressed nasal bridge, Micrognathia, Coat hanger sign of ribs,... |
ORPHA:254519 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... |
ORPHA:2249 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Hemothorax, Limitation of knee mobility, Abnormal bone structure... |
ORPHA:321 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Short nose, Mandibular aplasia, Anteverted nares |
ORPHA:1832 |
Pde4D Haploinsufficiency Syndrome |
|
Broad metacarpals, Broad phalanx, Prominent nasal tip, Short toe, Short metatarsal, Depressed nas... |
ORPHA:439822 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretro... |
OMIM:236500 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Codas Syndrome |
|
Short metacarpal, Depressed nasal bridge, Congenital hip dislocation, Brachydactyly, Abnormal pel... |
ORPHA:1458 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Cy... |
OMIM:610913 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... |
ORPHA:2019 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Talipes equinovar... |
OMIM:609945 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
Triploidy |
|
Micrognathia, Decreased skull ossification, Finger syndactyly, Omphalocele |
ORPHA:3376 |
Hall-Riggs Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Brachydactyly, Limb undergrowth, Abnormal epi... |
ORPHA:2107 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Brachydactyly, Short nose, Underdeveloped nasal alae, Wide nasal... |
OMIM:601224 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge |
OMIM:616430 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Unilambdoid synostosis, Micrognathia, Short nose, Clinodactyly, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage mat... |
ORPHA:2347 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Respiratory tract infection, Pneumonia, Hypoxemia |
ORPHA:70587 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Broad hallux phalanx, Short hallux, Short nose, Broad thumb, Bicoronal sy... |
ORPHA:93258 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Inguinal hernia, Hypoplas... |
OMIM:602613 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Short tibia, Micr... |
OMIM:251230 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Antley-Bixler Syndrome |
|
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... |
ORPHA:83 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Hypoplasia of the rad... |
OMIM:617604 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Coarctation of aorta, Ven... |
ORPHA:2745 |
Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Long hallux... |
OMIM:602875 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Anterior bowing of long bones, Bowing of the long bones, ... |
OMIM:255800 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage |
ORPHA:2867 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Short nose, Pulmonary hypoplasia, Contracture of the p... |
OMIM:601559 |
3Mc Syndrome 1 |
|
Abnormality of the abdominal wall, Wide anterior fontanel, Clinodactyly of the 5th finger, Corona... |
OMIM:257920 |
Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Short nose, Rocker bottom foot, Talipes equinovarus, Ulnar deviati... |
OMIM:193700 |
Distal Trisomy 18Q |
|
Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finger, Deviation ... |
ORPHA:1716 |
Simpson-Golabi-Behmel Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital hip dislocation, Short nose, Umb... |
ORPHA:373 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Broad nasal tip, Short nose, Wide nose, Short foot, Short pa... |
OMIM:602342 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Brachydactyly, Rhizo... |
ORPHA:2645 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Increased susceptibili... |
OMIM:146300 |
Kniest Dysplasia |
|
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... |
ORPHA:485 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Reduced bone mineral density, Slender long bone, Short nose, Choanal atresia, I... |
ORPHA:561 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Burn-Mckeown Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Slender finger, Micrognathia, Long fingers, Ulnar deviation of finger, Short nos... |
ORPHA:1895 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:264480 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Short nose, Respiratory tr... |
OMIM:218000 |
Bartsocas-Papas Syndrome 1 |
|
Talipes equinovarus, Short metacarpal, Flexion contracture, Absent thumb, Inguinal hernia, Microg... |
OMIM:263650 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Micrognathia, Brachydactyly, Camptodactyly, Short nose, Clinodactyly |
OMIM:613604 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Abnormality of the... |
ORPHA:1248 |
Perlman Syndrome |
|
Inguinal hernia, Micrognathia, Femoral hernia, Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:2849 |
Esophageal Atresia |
|
Cyanosis, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pulmo... |
ORPHA:1199 |
Microphthalmia With Limb Anomalies |
|
Flared nostrils, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Depressed nasal bridge, C... |
OMIM:206920 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal epiphysis mor... |
ORPHA:90653 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Cyanosis, Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Baker-Gordon Syndrome |
|
Short nose, Prominent nasal tip, Joint laxity |
OMIM:618218 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Decreased calvarial ossification, Micromelia, Abnormal rib morphology, Joint... |
ORPHA:2772 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hypermobility, Inguinal ... |
ORPHA:544503 |
Trisomy 18 |
|
Microretrognathia, Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyly o... |
ORPHA:3380 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Transient ischemic attack, Hemothorax, Pleural empyema, Pulmonary hemorrh... |
ORPHA:2038 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, Short nose, Congenital contracture, Death in infancy |
OMIM:615042 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Cutis marmorata, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transi... |
ORPHA:91387 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Short nose, Inguinal hernia, Umbilical hernia |
OMIM:613544 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Partial duplication... |
ORPHA:363417 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Reduced bone mineral density, Slender long bone, Spina bifida occulta, Short nose, Anteverted nar... |
ORPHA:1185 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Opsismodysplasia |
|
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Depressed nasal bridge, Hypo... |
OMIM:258480 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... |
ORPHA:63446 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Depressed nasal bridge, Micromelia, Hypoplas... |
ORPHA:85166 |
Hypertrichosis Cubiti |
|
Micromelia, Prominent nasal bridge, Joint hyperflexibility, Rhizomelia |
ORPHA:2220 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Short n... |
ORPHA:2547 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal bridge, Neonatal death, Bila... |
OMIM:619859 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Rachiti... |
ORPHA:157215 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni... |
ORPHA:93352 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Williams Syndrome |
|
Gait imbalance, Abnormal cardiac septum morphology, Ataxia, Stroke, Abnormal carotid artery morph... |
ORPHA:904 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Short nose |
OMIM:615539 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Metaphyseal irregularity, Bulbous nose, Coxa vara, Delayed ossification of... |
OMIM:271510 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Flexion contracture, Micrognathia, Loss of truncal subcutaneous adipose tissue, ... |
OMIM:608612 |
Verheij Syndrome |
|
Short 5th finger, Short nose, Clinodactyly, Hip dislocation, Vertebral fusion, Wide nasal bridge |
OMIM:615583 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Intraalveolar phospholipid accumulation, Foam cells, Hypoxemia |
ORPHA:747 |
Pfeiffer Syndrome |
|
Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Short middle phalanx of toe, S... |
OMIM:101600 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Hyperextensibility of the finger joints, Brachydactyly, Syndactyly, Short 5th fi... |
OMIM:305400 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Depressed nasal bridge, Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Short long bone, M... |
OMIM:618019 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Umbilical hernia, Prominent del... |
OMIM:619636 |
3M Syndrome |
|
Bulbous nose, Clinodactyly of the 5th finger, Thin ribs, Congenital hip dislocation, Hypoplastic ... |
ORPHA:2616 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Abnormal heart morphology |
ORPHA:1867 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Depressed nasal bridge, Partial duplication of thumb phalanx, Mic... |
OMIM:616331 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cyanosis, Pulmonary artery hypoplasia, Anomalous origin of left co... |
ORPHA:2326 |
Fryns Syndrome |
|
Short distal phalanx of finger, Microretrognathia, Joint contracture of the hand, Prominent finge... |
OMIM:229850 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short nose... |
OMIM:614613 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Thanatophoric Dysplasia |
|
Joint stiffness, Depressed nasal bridge, Brachydactyly, Micromelia, Abnormal ilium morphology, Pu... |
ORPHA:2655 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Cutis marmorata,... |
ORPHA:183 |
Clark-Baraitser Syndrome |
|
Low hanging columella, Depressed nasal bridge, Short nose, Sandal gap, Clinodactyly, Anteverted n... |
OMIM:617752 |
Focal Dermal Hypoplasia |
|
Hiatus hernia, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Umbilical hernia, Omp... |
OMIM:305600 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Cartilage-Hair Hypoplasia |
|
Depressed nasal ridge, Abnormally ossified vertebrae, Depressed nasal bridge, Aplasia/Hypoplasia ... |
ORPHA:175 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Micrognathia, Limb undergrowth, Abnormal metacarpal morphology, ... |
ORPHA:3429 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Flexion contracture, Tapered finger, Short nose, Prominent nasal bridge, Contractur... |
OMIM:613870 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... |
ORPHA:2928 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Congenital bilateral hip disloca... |
ORPHA:453510 |
Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Inguinal hernia, Generalized joint laxity, Thin ribs, Osteopenia, Micr... |
OMIM:613848 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Duplication of the distal p... |
OMIM:268310 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Narrow gre... |
OMIM:224400 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Calcaneal epiphyseal stippling, Depressed nasal ridge, Abnormal o... |
ORPHA:79345 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Short nose, Hypoplastic ischia, Polydactyly |
OMIM:616910 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... |
OMIM:309801 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synos... |
ORPHA:968 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose |
ORPHA:438178 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Cyanosis, Displacement of the papilla... |
ORPHA:1329 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose |
OMIM:613670 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal he... |
OMIM:601186 |
Autosomal Dominant Omodysplasia |
|
Short 1st metacarpal, Depressed nasal bridge, Short humerus, Micrognathia, Short nose, Rhizomelia... |
ORPHA:93328 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Flexion contracture, Prominent fingertip pads, Broad nasal tip, Recurrent upper respiratory tract... |
ORPHA:391372 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndactyly |
ORPHA:1514 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Genu valgum, Spina bifida occulta, Reduced bone mineral density |
ORPHA:2983 |
Meckel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Omphalocele |
OMIM:603194 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Dislocation of the femoral head, Delayed epiphyseal ossification, Metaphyseal irregularity, Flexi... |
OMIM:616007 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
C Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Hand pol... |
ORPHA:1308 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Short toe, Depressed nasal bridge, Camptodactyly of finger, Brach... |
ORPHA:1327 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Cya... |
ORPHA:99104 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... |
ORPHA:86822 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Hypoplasia of the ulna... |
ORPHA:3186 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Convex nasal ridge, Bifid distal phalanx of toe, Limited elbow extension, Bifid ... |
OMIM:618419 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Abnormality of the nares, Brachydactyly, Abnorma... |
ORPHA:1295 |
Sponastrime Dysplasia |
|
Depressed nasal bridge, Hypoplasia of the nasal bone, Short nose, Genu valgum, Hip subluxation, S... |
ORPHA:93357 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Small hand, Depressed nasal bridge, Broad hallux phalanx, Short hallux, Deviation... |
ORPHA:93259 |
Pyknoachondrogenesis |
|
Sclerosis of skull base, Abnormal iliac wing morphology, Depressed nasal ridge, Short ribs, Micro... |
ORPHA:3003 |
Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Cyanosis, Choreoathetosis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... |
ORPHA:141127 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal metaphysis morphology, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Abs... |
ORPHA:93271 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia, Neonatal death |
OMIM:273680 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Small hand, Osteopenia, Broad nasal tip, Depressed nasal tip, Broad f... |
ORPHA:488434 |
Raine Syndrome |
|
Long hallux, Increased bone mineral density, Depressed nasal bridge, Micrognathia, Brachydactyly,... |
OMIM:259775 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... |
OMIM:211350 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Diastasis recti, Wide anterior fontanel, Depressed nasal bridge, ... |
OMIM:616638 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intrauterine growth retardation, Congenital pulmonary airway malformat... |
ORPHA:436252 |
Infantile Systemic Hyalinosis |
|
Recurrent fractures, Joint stiffness, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... |
ORPHA:2176 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:613443 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Short nose, Ulnar deviation of the hand or of fingers of the hand |
OMIM:122880 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Cyanosis, Hypoxemia |
ORPHA:1302 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Bulbous nose, Clinodactyly of the 5th finger, Congenital diaphragmatic her... |
OMIM:618454 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Metaphyseal widening, Brachydactyly, Irregular epiphyses, Mesomelia, Broad thumb, Absent nasal br... |
OMIM:612813 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Short femur, Depressed nasal bridge, Femoral bowing, Hyp... |
ORPHA:1860 |
Omodysplasia 1 |
|
Limited knee flexion/extension, Limited knee flexion, Depressed nasal bridge, Increased fibular d... |
OMIM:258315 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Prominent nasal tip, Convex nasal ridge, 2-3 toe syndactyly, Microretrognathia, Finger joint hype... |
OMIM:618870 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Apert Syndrome |
|
Ventricular septal defect, Overriding aorta |
OMIM:101200 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis, Osteopeni... |
ORPHA:2409 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Image Syndrome |
|
Depressed nasal bridge, Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Depressed nasal ridge, Depressed nasal bridge, Tracheobronchomalacia, Short no... |
OMIM:616835 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... |
ORPHA:249 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia |
OMIM:614744 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... |
ORPHA:60025 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
Dysostosis, Stanescu Type |
|
Convex nasal ridge, Increased bone mineral density, Massively thickened long bone cortices, Abnor... |
ORPHA:1798 |
15Q11.2 Microdeletion Syndrome |
|
Ataxia, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:261183 |
Heterotaxy, Visceral, 8, Autosomal |
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Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Peho-Like Syndrome |
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Short nose |
OMIM:617507 |
Osteogenesis Imperfecta, Type Viii |
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Recurrent fractures, Type 1 collagen overmodification, Tibial bowing, Wide anterior fontanel, Rad... |
OMIM:610915 |
Hereditary Methemoglobinemia |
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Cyanosis, Athetosis |
ORPHA:621 |
Holoprosencephaly |
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Aplasia/Hypoplasia involving the nose, Congenital diaphragmatic hernia, Depressed nasal ridge, Hy... |
ORPHA:2162 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Slender finger, Micrognathia, Down-sloping shoulders, Deviation of the 5th toe, Slender toe, Wide... |
ORPHA:391408 |
Meckel Syndrome, Type 8 |
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Talipes equinovarus, Depressed nasal ridge, Polydactyly, Postaxial hand polydactyly, Short nose |
OMIM:613885 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Arachnodactyly, Hip dislocation, Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Fibular hyp... |
OMIM:164900 |
Osteogenesis Imperfecta, Type Vii |
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Recurrent fractures, Coxa vara, Wide anterior fontanel, Bowing of the legs, Multiple rib fracture... |
OMIM:610682 |
Bruck Syndrome 2 |
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Talipes equinovarus, Flexion contracture, Inguinal hernia, Osteopenia, Femoral bowing, Elbow flex... |
OMIM:609220 |
Nievergelt Syndrome |
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Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Overlapping toe, Low hanging columella, Flexion contracture, Overlapping fingers, Broad columella... |
OMIM:619383 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
Geleophysic Dysplasia 1 |
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Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... |
OMIM:231050 |
Charge Syndrome |
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Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... |
OMIM:214800 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia |
OMIM:228940 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Postaxial hand polydactyly, Short nose, Microretrognathia, Recurrent respiratory infections |
ORPHA:1389 |
Gm1 Gangliosidosis |
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Joint stiffness, Depressed nasal ridge, Inguinal hernia, Aspiration pneumonia, Broad nasal tip, D... |
ORPHA:354 |
Ohdo Syndrome |
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Clinodactyly of the 5th finger, Depressed nasal bridge, Micrognathia, Short nose, Joint laxity, A... |
OMIM:249620 |
Teebi Hypertelorism Syndrome 2 |
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Wide anterior fontanel, Clinodactyly of the 5th finger, Broad nasal tip, Depressed nasal bridge, ... |
OMIM:619736 |
3C Syndrome |
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Finger syndactyly, Inguinal hernia, Abnormal hip bone morphology, Depressed nasal bridge, Microgn... |
ORPHA:7 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... |
OMIM:617866 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Neoplasm of the heart, Death in infancy, Umbilical hernia, Omphalocele |
ORPHA:2241 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Abnormal cardiac septum morphology, Omphalocele, Umbilical hernia, Abnormal lung lobation |
ORPHA:2166 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Bulbous nose, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Syndactyly, Camptodactyly... |
ORPHA:369891 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Micrognathia, Recurrent upper respiratory tract infections, Congenital hip dislocation, Short nos... |
ORPHA:3078 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Bulbous nose, Craniosynostosis, Long nose, Depressed nasal bridge, Short nose, Narrow greater sci... |
ORPHA:508533 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Shortening ... |
OMIM:601356 |
Arterial Tortuosity Syndrome |
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Telangiectases of the cheeks, Aortic valve stenosis, Hiatus hernia, Flexion contracture, Congenit... |
OMIM:208050 |
Congenital Total Pulmonary Venous Return Anomaly |
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Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Pulmonary hy... |
ORPHA:99125 |
Oculodentodigital Dysplasia |
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Short nose, Umbilical hernia, Abnormal metaphysis morphology, Abnormal cortical bone morphology, ... |
ORPHA:2710 |
Thanatophoric Dysplasia Type 2 |
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Limitation of joint mobility, Depressed nasal bridge, Brachydactyly, Micromelia, Abnormal metaphy... |
ORPHA:93274 |
Congenital Fibrinogen Deficiency |
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Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... |
ORPHA:335 |
Buerger Disease |
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Acrocyanosis, Vasculitis |
ORPHA:36258 |
Intellectual Developmental Disorder, X-Linked 30 |
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Anteverted nares, Short nose, Prominent nasal bridge, Prominent fingertip pads |
OMIM:300558 |
Caudal Duplication |
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Omphalocele |
ORPHA:1756 |
Bartsocas-Papas Syndrome |
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Toe syndactyly, Absent thumb, Micrognathia, Synostosis of joints, Short nose, Underdeveloped nasa... |
ORPHA:1234 |
Distal Trisomy 5Q |
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Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Brachydactyly, Hypoplasia... |
ORPHA:96097 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Urticaria, Muscular ventricular septal defect, Falls, Ventri... |
OMIM:619503 |
Cutis Laxa, Autosomal Dominant 1 |
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Uterine prolapse, Peripheral pulmonary artery stenosis, Prematurely aged appearance, Progeroid fa... |
OMIM:123700 |
Tetrasomy 5P |
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Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus, Mic... |
ORPHA:3309 |
Feingold Syndrome Type 1 |
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Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... |
ORPHA:391641 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Short nose |
OMIM:245570 |
Benign Familial Infantile Epilepsy |
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Cyanosis |
ORPHA:306 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Short distal phalanx of finger, Short distal phalanx of toe, Micrognathia, Short nose, Bilateral ... |
OMIM:619356 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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