Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... |
OMIM:215140 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Atelosteogenesis, Type Ii |
|
Cleft palate, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sandal gap, Pulmonary hyp... |
OMIM:256050 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... |
OMIM:183900 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymi... |
OMIM:604213 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Barrel-shaped chest, Brachy... |
ORPHA:263463 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissure... |
OMIM:311300 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, I... |
OMIM:226980 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Hypoplasia of the maxilla, Omphalo... |
OMIM:608149 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Abnormality of the dentition, Scoliosis, Pectus ca... |
ORPHA:3268 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Uppe... |
ORPHA:94068 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervica... |
OMIM:607095 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Pulmon... |
OMIM:200600 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Sparse eyebrow, Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of t... |
OMIM:143095 |
Fucosidosis |
|
Abnormality of the abdominal wall, Hepatomegaly, Barrel-shaped chest, Anterior beaking of lumbar ... |
OMIM:230000 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Short neck, Platyspondy... |
ORPHA:93267 |
Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ... |
OMIM:200610 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... |
ORPHA:2631 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Pursed lips, Short neck, 11 pairs of ribs, Downslanted palpebral fissures, Umbilical hernia, Calc... |
OMIM:616266 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Pectus excavatum, Osteopenia, Hammertoe, Phalangeal dislocation, Ventral hernia, San... |
ORPHA:536532 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Joint stiffness, High, narrow palate, Cleft palate, Micrognathia,... |
ORPHA:2516 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Sacral meningocele, Multiple lipomas, Limb duplication, Hand polyd... |
OMIM:223200 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Hernia of the abdominal wall, Bra... |
ORPHA:1277 |
Arthrogryposis, Distal, Type 2B1 |
|
High palate, Narrow mouth, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philt... |
OMIM:601680 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... |
ORPHA:401935 |
Distal Trisomy 15Q |
|
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... |
ORPHA:1707 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... |
ORPHA:3035 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatoblastoma, Hepatomegaly, ... |
ORPHA:96334 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... |
ORPHA:96170 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Pectus excavatum, Narrow mouth, Malar flattening, Membranous subvalvular aortic stenos... |
OMIM:271960 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... |
ORPHA:2635 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... |
ORPHA:2484 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Hemivertebrae, Short neck, Finger clinodact... |
ORPHA:99776 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow chest, Narrow palate, Talipes equinovarus, Thoracic scoliosis, Adducted thumb... |
OMIM:617022 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Short p... |
OMIM:156510 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Thin ribs, Micrognathia, Short philtrum, Platyspondyly, Metaphyseal cupping of metaca... |
ORPHA:163966 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Bowing... |
OMIM:619131 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular sept... |
OMIM:201000 |
Fibrochondrogenesis 1 |
|
Cleft palate, Short neck, Platyspondyly, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Post... |
OMIM:228520 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Atrial septal defect, Radial d... |
ORPHA:1388 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contract... |
OMIM:617468 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Cryptorchidism... |
ORPHA:3080 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral bowing, Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Platyspondyly,... |
OMIM:610915 |
Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... |
OMIM:615222 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Down... |
ORPHA:2980 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Lumbar hyperlordosis, Thin ribs, Malar flattening, Short neck, ... |
OMIM:612921 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Epiphyseal stippling of ... |
ORPHA:79345 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormality of the abdominal wall, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognat... |
OMIM:224410 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
High palate, Pectus excavatum, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Aortic ro... |
ORPHA:230851 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... |
OMIM:304950 |
Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... |
OMIM:609029 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... |
OMIM:304120 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, ... |
OMIM:305400 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Marden-Walker Syndrome |
|
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypopla... |
OMIM:248700 |
Craniofacioskeletal Syndrome |
|
Cleft palate, Barrel-shaped chest, Short philtrum, Downslanted palpebral fissures, Ventricular se... |
OMIM:300712 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtr... |
ORPHA:251028 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Shallow orbits, Pectus carinatum, Do... |
OMIM:182212 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Short neck, Lobulated tongue, Ventricular septal defect, Median cleft lip and palat... |
OMIM:269860 |
Larsen Syndrome |
|
Pectus excavatum, Cleft palate, Talipes equinovalgus, Shallow orbits, Pectus carinatum, Ventricul... |
OMIM:150250 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... |
OMIM:617895 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Pulmonary hypopla... |
OMIM:616897 |
Lujan-Fryns Syndrome |
|
High palate, Pectus excavatum, Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly ... |
ORPHA:776 |
Scarf Syndrome |
|
Diastasis recti, Short sternum, Inguinal hernia, Coronal craniosynostosis, Barrel-shaped chest, S... |
OMIM:312830 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm short... |
ORPHA:56304 |
3P25.3 Microdeletion Syndrome |
|
Cleft palate, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broad hallux, Pyloric stenos... |
ORPHA:435638 |
Martsolf Syndrome 1 |
|
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... |
OMIM:212720 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, Pectus excavatum, Downslanted palpebral fissures, Calcaneovalgus deformity, High, na... |
OMIM:612513 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Barrel-shaped chest, Short neck, Br... |
OMIM:612813 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Malar flattening, Barrel-sha... |
OMIM:184100 |
Catel-Manzke Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Single transverse palm... |
OMIM:616145 |
Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Short neck, Omphalocele, Anorectal anomaly, Vertebral segmentation def... |
ORPHA:1834 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Th... |
OMIM:312150 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... |
OMIM:265000 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow grea... |
OMIM:263210 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Micrognathia, Micromelia, Anterior hypopituitarism, Postaxial hand poly... |
OMIM:241800 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the... |
ORPHA:2990 |
Weaver Syndrome |
|
Hydrocele testis, Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, S... |
OMIM:277590 |
Orofaciodigital Syndrome Type 10 |
|
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus,... |
ORPHA:2756 |
Fibrochondrogenesis |
|
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of fi... |
ORPHA:2021 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
Bowen-Conradi Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Abnormal ... |
ORPHA:1270 |
Nemaline Myopathy 9 |
|
High palate, Narrow chest, Cleft palate, Micrognathia, Respiratory insufficiency, Scoliosis, Arth... |
OMIM:615731 |
Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Short clavicles, Narrow mouth, Gastroesophageal reflux, Wide anterior ... |
OMIM:617746 |
Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... |
ORPHA:1692 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... |
OMIM:618845 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... |
ORPHA:40366 |
Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Unossified sacrum, Short ribs, Delayed proximal femoral... |
ORPHA:93296 |
Pseudoaminopterin Syndrome |
|
High palate, Pectus excavatum, Prominent sternum, Slender finger, Short philtrum, Clinodactyly of... |
ORPHA:221120 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodac... |
OMIM:136760 |
Diaphanospondylodysostosis |
|
Respiratory distress, Unossified sacrum, Cleft palate, Abnormal liver lobulation, Short neck, Ham... |
OMIM:608022 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Upslanted palpebral fissure, Atrioventric... |
OMIM:619123 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Respiratory distress, Airway obstruction, Barrel-shaped chest, Short n... |
ORPHA:505248 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... |
ORPHA:958 |
Arthrogryposis, Distal, Type 5D |
|
Talipes equinovarus, Cleft palate, Adducted thumb, Micrognathia, Short neck, Scoliosis, Camptodac... |
OMIM:615065 |
Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology, Platyspondyly, Abnormali... |
ORPHA:1190 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... |
OMIM:224690 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... |
OMIM:216550 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cleft palate, Downslanted palpebral fissures, Pulmonary hypop... |
ORPHA:90652 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... |
OMIM:108721 |
Three M Syndrome 3 |
|
Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Long philtrum, Slender lo... |
OMIM:614205 |
Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
Coffin-Lowry Syndrome |
|
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Broad finger, Delaye... |
ORPHA:192 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the pubic bone, Platyspondyly, A... |
ORPHA:2588 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... |
ORPHA:85438 |
Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... |
OMIM:252100 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Abnormal rib cage morpholo... |
OMIM:608154 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Cleft palate, Branchial fistula, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal ... |
ORPHA:261330 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, Malar flattening, Broad hallux phalanx, Long philtrum, Pectus... |
ORPHA:261295 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Pectus excavatum, Craniosynostosis, Osteopenia, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:2462 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
C Syndrome |
|
High palate, Wide mouth, Hepatomegaly, Micromelia, Ulnar deviation of finger, Ventricular septal ... |
OMIM:211750 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:601390 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... |
ORPHA:1248 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Thoracic hypoplasia, Shor... |
OMIM:618363 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Finger joint hypermobility, Anomalous branches of internal carotid ... |
ORPHA:363705 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Sparse eyebrow, Short philtrum, Downslanted palpebra... |
OMIM:612530 |
Larsen-Like Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Joint d... |
OMIM:608545 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Wide mouth, Pectus excavatum, Limited pronation/supination of forearm, Short neck, Hypoplastic pe... |
ORPHA:163654 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Malar flattening, Cleft palate... |
ORPHA:85166 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Cone-shaped epiphysis, Short philtrum, Upper limb undergrowth, Broad hallux, Cauda... |
ORPHA:439822 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... |
ORPHA:1354 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal sclerosis, Rheumatoid arthritis, Barrel-shaped chest, Platyspondyly, Pneumonia, Short... |
OMIM:607944 |
Endocrine-Cerebroosteodysplasia |
|
Narrow chest, Cleft upper lip, Ulnar deviation of the hand, Malar flattening, Postaxial polydacty... |
OMIM:612651 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypoplasia, Pterygium... |
ORPHA:1865 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... |
OMIM:114300 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Barrel-shaped chest, Short neck, Brachydactyly, Abnormal respiratory system... |
ORPHA:171866 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Scoliosis, Oral cleft, Large hands, Synophrys, Decreased testicular size, Crypto... |
ORPHA:85287 |
Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... |
OMIM:134780 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
Pentalogy Of Cantrell |
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Abnormal sternum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate,... |
ORPHA:1335 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Talipes equinovarus, Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Chol... |
OMIM:615415 |
Cohen Syndrome |
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Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
Multiple Pterygium Syndrome, Lethal Type |
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Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ribs, Cleft pa... |
OMIM:253290 |
Van Maldergem Syndrome 2 |
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High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:615546 |
Van Den Ende-Gupta Syndrome |
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High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Taper... |
OMIM:600920 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul... |
OMIM:616531 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Vertebral segmentation defect, Cleft palate, Anophthalmia, Dextrocardia, Microphthalmia, Supernum... |
OMIM:221950 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Cleft palate, Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Truncus arteriosus |
OMIM:611867 |
Chromosome 9P Deletion Syndrome |
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High palate, Clinodactyly of the 4th toe, Short neck, Tapered finger, Ventricular septal defect, ... |
OMIM:158170 |
Solitary Bone Cyst |
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Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
Triploidy |
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Narrow chest, Abnormal cardiac septum morphology, Wide mouth, Narrow mouth, Hepatomegaly, Macrogl... |
ORPHA:3376 |
Osteopathia Striata With Cranial Sclerosis |
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High palate, Apnea, Pectus excavatum, Cleft palate, Ventricular septal defect, Broad ribs, Omphal... |
OMIM:300373 |
Feingold Syndrome 1 |
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High palate, Tracheoesophageal fistula, Aplasia/Hypoplasia of the middle phalanx of the 5th finge... |
OMIM:164280 |
Anauxetic Dysplasia 2 |
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Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Flexion contracture, Macrog... |
OMIM:617396 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Omphalocele... |
OMIM:616300 |
Brachyolmia Type 3 |
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Kyphosis, Barrel-shaped chest, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodac... |
OMIM:113500 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Opitz-Kaveggia Syndrome |
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Dental crowding, Multiple joint contractures, Wide mouth, Prominent fingertip pads, Cleft palate,... |
OMIM:305450 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... |
ORPHA:2790 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Long ey... |
OMIM:213980 |
Mmep Syndrome |
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Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... |
ORPHA:3434 |
Pseudodiastrophic Dysplasia |
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Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele, Elbow dislocation |
ORPHA:85174 |
Diastrophic Dysplasia |
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Abnormal clavicle morphology, Cleft palate, Micromelia, Symphalangism affecting the phalanges of ... |
ORPHA:628 |
Acrocardiofacial Syndrome |
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Cleft palate, Ventricular septal defect, Long eyelashes, Cleft upper lip, Anal atresia, Joint dis... |
ORPHA:2008 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... |
OMIM:614091 |
Fg Syndrome Type 1 |
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High palate, Wide mouth, Malrotation of colon, Craniosynostosis, Limited elbow extension and supi... |
ORPHA:93932 |
Osteogenesis Imperfecta, Type X |
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Narrow chest, Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Malar flattening, O... |
OMIM:613848 |
Thanatophoric Dysplasia |
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Narrow chest, Joint stiffness, Kyphosis, Atrial septal defect, Respiratory insufficiency, Platysp... |
ORPHA:2655 |
Fryns Syndrome |
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Wide mouth, Prominent fingertip pads, Cleft palate, Short neck, Single transverse palmar crease, ... |
OMIM:229850 |
Robinow Syndrome, Autosomal Recessive 2 |
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Bicuspid aortic valve, Gingival overgrowth, Triangular mouth, Micrognathia, Abnormality of the de... |
OMIM:618529 |
Marshall-Smith Syndrome |
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High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... |
OMIM:602535 |
Stickler Syndrome Type 1 |
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Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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High palate, 2-3 toe syndactyly, Flexion contracture, Scoliosis, Long fingers, Tapered finger, Hy... |
OMIM:218000 |
Metatropic Dysplasia |
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Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Double Outlet Right Ventricle |
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Hypoparathyroidism, Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
Stuve-Wiedemann Syndrome 1 |
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Enlarged joints, Apnea, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Singl... |
OMIM:601559 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Respiratory distress, Hepatomegaly, Atrioventricular canal defect, Bilia... |
OMIM:306955 |
Diaphanospondylodysostosis |
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Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... |
ORPHA:66637 |
Gombo Syndrome |
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Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger, Abnormal heart morphology |
OMIM:233270 |
Tarp Syndrome |
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Apnea, Pectus excavatum, Short sternum, Cleft palate, Single transverse palmar crease, Tongue nod... |
ORPHA:2886 |
3Mc Syndrome 1 |
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Abnormality of the abdominal wall, Cleft palate, Radioulnar synostosis, Ventricular septal defect... |
OMIM:257920 |
Fryns Syndrome |
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High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Short neck, Pulmonary ... |
ORPHA:2059 |
Costello Syndrome |
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High palate, Barrel-shaped chest, Short neck, Pectus carinatum, Pyloric stenosis, Downslanted pal... |
OMIM:218040 |
Vacterl/Vater Association |
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Vertebral segmentation defect, Anal atresia, Abnormal cardiac septum morphology, Abnormal interve... |
ORPHA:887 |
Nager Syndrome |
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Abnormal palate morphology, Joint stiffness, Wide mouth, Cleft palate, Hypoplasia of the radius, ... |
ORPHA:245 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
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Pectus excavatum, Genu recurvatum, Inguinal hernia, Bruising susceptibility, Mitral valve prolaps... |
OMIM:225320 |
Robinow Syndrome, Autosomal Dominant 3 |
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Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Long eyelashes, Anteriorly... |
OMIM:616894 |
Trisomy 1Q |
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Anal atresia, Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Ara... |
ORPHA:261344 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Broad phalanx, Pectus excavatum, Exocrine pancreatic insufficiency, Atrioventricular canal defect... |
ORPHA:508498 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
8Q22.1 Microdeletion Syndrome |
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Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Abnormality of the dentition, Camptodactyly o... |
ORPHA:178303 |
Microcephaly-Micromelia Syndrome |
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Forearm undergrowth, Narrow chest, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cl... |
OMIM:251230 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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High palate, Narrow chest, Kyphosis, Pectus excavatum, Scoliosis, Long foot, Pectus carinatum, Hy... |
OMIM:300676 |
Microphthalmia With Limb Anomalies |
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High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Sandal gap, Hypoplasia of ... |
ORPHA:1106 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decrea... |
OMIM:276820 |
Adams-Oliver Syndrome 6 |
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Splenomegaly, Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Esophageal v... |
OMIM:616589 |
Mosaic Trisomy 14 |
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High palate, Ectopic anus, Narrow chest, Wide mouth, Cleft palate, Micrognathia, Camptodactyly of... |
ORPHA:1703 |
Temtamy Preaxial Brachydactyly Syndrome |
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Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Talipes calcaneovarus, High palate, Cholelithiasis, Pectus excavatum, Furrowed tongue, Hypoplasia... |
OMIM:300534 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Polycys... |
ORPHA:371428 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu... |
ORPHA:2511 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Osteopenia, ... |
ORPHA:536471 |
Hypoglossia With Situs Inversus |
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High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis... |
OMIM:612776 |
Miller-Dieker Syndrome |
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Clinodactyly of the 5th finger, Abnormality of upper lip, Epicanthus, Omphalocele, Sacral dimple |
ORPHA:531 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Pulmonary hypoplasia, S... |
OMIM:263520 |
Dysostosis, Stanescu Type |
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Pectus excavatum, Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Abnormal e... |
ORPHA:1798 |
Lowry-Maclean Syndrome |
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Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single transverse palm... |
ORPHA:2409 |
Tetrasomy 5P |
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High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ... |
ORPHA:3309 |
Gracile Bone Dysplasia |
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Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Microphthalmi... |
OMIM:602361 |
3M Syndrome |
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Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... |
ORPHA:2616 |
Periventricular Nodular Heterotopia |
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Gastroesophageal reflux, Aortic aneurysm, Shoulder dislocation, Scoliosis, Pyloric stenosis, Hern... |
ORPHA:98892 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Flexion contracture of finger, Pectus excavatum, Prominent sternum, Single transverse palmar crea... |
ORPHA:254528 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Telangiectasia of the skin, Hiatus hernia, Craniosynostosis, Abnormal carot... |
ORPHA:3342 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
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Cleft palate, Sparse eyebrow, Cutaneous syndactyly, Broad hallux, Ventricular septal defect, Sand... |
OMIM:600987 |
Chromosome 6Pter-P24 Deletion Syndrome |
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High palate, Pectus excavatum, Short neck, Downslanted palpebral fissures, Ventricular septal def... |
OMIM:612582 |
Noonan Syndrome 13 |
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High palate, Wide mouth, Short neck, Microdontia, Tapered finger, Downslanted palpebral fissures,... |
OMIM:619087 |
Melnick-Needles Syndrome |
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Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... |
OMIM:309350 |
Postaxial Acrofacial Dysostosis |
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Pectus excavatum, Cleft palate, Hypoplasia of the radius, Congenital hip dislocation, Radioulnar ... |
OMIM:263750 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Postaxial polydactyly, Atrioventricular canal defect, Short philtrum, Di... |
OMIM:619142 |
Jackson-Weiss Syndrome |
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2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Focal Dermal Hypoplasia |
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Telangiectasia of the skin, Abnormal cardiac septum morphology, Abnormality of the dentition, Ven... |
ORPHA:2092 |
Acrofacial Dysostosis, Palagonia Type |
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Cleft upper lip, Sparse eyebrow, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral c... |
OMIM:601829 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Delayed eruption of tee... |
OMIM:619148 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Cleft palate, Decreased calvarial ossification, Short neck, Long thorax, Pulmonary hypoplasia, Sh... |
OMIM:617925 |
Geroderma Osteodysplasticum |
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Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... |
OMIM:231070 |
Femoral-Facial Syndrome |
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Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Sprengel anomaly, Rib fusi... |
ORPHA:1988 |
Meckel Syndrome, Type 1 |
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Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Malformation of the hep... |
OMIM:249000 |
Acrofacial Dysostosis 1, Nager Type |
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Wide mouth, Urticaria, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosi... |
OMIM:154400 |
Primary Pulmonary Hypoplasia |
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Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Micrognathia, Cyanosis, Ta... |
ORPHA:2257 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista... |
ORPHA:2662 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxat... |
OMIM:259600 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Premature loss of teeth, Kyphosis, Increased bone mineral density, Osteopeni... |
OMIM:239000 |
Esophageal Atresia |
|
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, Ventricular sept... |
ORPHA:1199 |
Marfan Syndrome |
|
High palate, Reduced subcutaneous adipose tissue, Tricuspid valve prolapse, Pectus excavatum, Mit... |
OMIM:154700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Pectus excavatum, Atrial septal defect, Macroorchidism, Flexion contracture, Arachno... |
OMIM:309520 |
Congenital Vertical Talus |
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Equinus calcaneus, Abnormality of the foot musculature, Lower extremity joint dislocation, Distal... |
ORPHA:178382 |
Short Stature And Facioauriculothoracic Malformations |
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High palate, Cleft upper lip, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Ventr... |
OMIM:609654 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inciso... |
ORPHA:397973 |
Weill-Marchesani Syndrome 1 |
|
Broad metacarpals, Joint stiffness, Spinal canal stenosis, Narrow palate, Aortic valve stenosis, ... |
OMIM:277600 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... |
OMIM:122470 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septa... |
ORPHA:210122 |
Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... |
ORPHA:950 |
Fetal Valproate Spectrum Disorder |
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Narrow mouth, Thin vermilion border, Long philtrum, Downturned corners of mouth, Epicanthus, Omph... |
ORPHA:1906 |
Trigonocephaly 1 |
|
Craniosynostosis, Synophrys, Omphalocele, Lumbar hemivertebrae, Meckel diverticulum |
OMIM:190440 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
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Cleft upper lip, Abnormality of the tongue, Malar flattening, Intestinal malrotation, Partial dup... |
OMIM:601165 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Cleft upper lip, Blepharitis, 2-3 toe syndactyly, Lacrimal duct atresia, Ankyloblepharon, Cleft p... |
OMIM:106260 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Epicanthus, Unilateral clef... |
ORPHA:1919 |
Trisomy 13 |
|
Cleft palate, Abnormality of the dentition, Ventricular septal defect, High, narrow palate, Long ... |
ORPHA:3378 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Myhre Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Short philtrum, Short neck, Platyspondyly, Ventricular septa... |
OMIM:139210 |
Mucopolysaccharidosis Type 1 |
|
Apnea, Microdontia, Abnormality of the tonsils, Abnormal epiphysis morphology, Abnormal metaphysi... |
ORPHA:579 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ankyloblepharon, Absent thumb, Cleft palate, Short neck, Cicatricial lagophthalmos, O... |
OMIM:263650 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Cleft palate, Abnormality of the dentition,... |
ORPHA:96169 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Abn... |
OMIM:236640 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal m... |
OMIM:601163 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathi... |
OMIM:611890 |
Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... |
ORPHA:376 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Lacrimal duct atresia, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar... |
ORPHA:1529 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... |
OMIM:246560 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Ventricular septal defect, Truncus arteriosus, Cleft palate |
OMIM:601355 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Respiratory distress, Pectus excavatum, Stroke, Slender... |
ORPHA:536467 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Short neck, Platyspondyly, Anisospondyly, Ovoid verteb... |
ORPHA:163649 |
Jacobsen Syndrome |
|
Short neck, Pyloric stenosis, Downslanted palpebral fissures, Ventricular septal defect, Bone mar... |
ORPHA:2308 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metatarsal osteolysis, Osteopenia, ... |
OMIM:166300 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Upslanted palpebral fissure, Small hand, Coronal craniosy... |
OMIM:145420 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Dental crowding, Respiratory distress, Pectus excavatum, Prominent fingertip pads, C... |
OMIM:180849 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, Ve... |
OMIM:611209 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... |
ORPHA:1486 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Highly ar... |
ORPHA:261120 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Short neck, Downslanted palpebral fissures, Ventricular septal defe... |
OMIM:601808 |
Tonne-Kalscheuer Syndrome |
|
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Malar flattening, Mi... |
OMIM:300978 |
Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:373 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Short neck, Ulnar deviation of finger, Trismus, Talipes equinovarus, Short palpebral... |
OMIM:277720 |
Mucolipidosis Type Iii |
|
Joint stiffness, Large iliac wing, Cleft palate, Abnormal hip bone morphology, Inguinal hernia, R... |
ORPHA:577 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate, Omphalocele |
OMIM:258320 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Pectus excavatum, Cleft palate, Tapered finger, Downslanted palpebral fissures, Pulm... |
OMIM:618975 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Clinodactyly of the 5th finger, Osteopenia, Scoliosis, Single transver... |
OMIM:619717 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Congenital hip dislocation, Single transverse palmar crease, ... |
OMIM:308050 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Respiratory insufficiency, Abnormal sacrum morphology, Brachydactyly, Abnormal ... |
ORPHA:93262 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, A... |
OMIM:253000 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... |
ORPHA:251071 |
Neuralgic Amyotrophy |
|
Sprengel anomaly, Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocy... |
ORPHA:2901 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Asthma, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis... |
OMIM:614262 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short neck, Tapered ... |
OMIM:608156 |
Koolen-De Vries Syndrome |
|
High palate, Pectus excavatum, Slender finger, Prominent fingertip pads, Cleft palate, Narrow pal... |
OMIM:610443 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Elbow disloca... |
ORPHA:2538 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Scoliosis, Ventricular septal defect, Bilateral cleft lip and palat... |
OMIM:601357 |
Distal Monosomy 7Q36 |
|
Wide mouth, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Upslanted palpebral f... |
ORPHA:1636 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Cutis marmorata, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single tra... |
OMIM:614701 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Short philtrum... |
ORPHA:1617 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Talipes equinovarus, Cryptorchidism, Camptodactyly of finger, Tapered finger, Hypopl... |
ORPHA:85279 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cryptorchidism, Cleft palate, Micrognathia, Abnormality of the p... |
ORPHA:3429 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Ankyloblepharon, Cleft palate |
OMIM:106250 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Scoliosis, Bif... |
ORPHA:96184 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... |
ORPHA:2759 |
Aarskog Syndrome, Autosomal Dominant |
|
Proximal finger joint hyperextensibility, Hepatomegaly, Cleft palate, Macrocytic anemia, Single t... |
OMIM:100050 |
Mueller-Weiss Syndrome |
|
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Micrognathia, Recurrent upper respiratory tract infections, Congenital hip dislocation, Apneic ep... |
ORPHA:3078 |
Weill-Marchesani Syndrome 2 |
|
High palate, Shallow orbits, Thin bony cortex, Ventricular septal defect, Broad ribs, Hypoplasia ... |
OMIM:608328 |
Hartsfield Syndrome |
|
Microphthalmia, Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the radius, Downslanted pal... |
ORPHA:2117 |
Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Rocker bottom foot, Camptodactyly, ... |
OMIM:620019 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Sh... |
ORPHA:567 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Short palpebral fissure,... |
OMIM:608572 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Pectus excavatum, Craniosynostosis, Abnormality of the dentition, Short philtrum, ... |
ORPHA:1299 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... |
ORPHA:1307 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Cleft palate, Short neck, Micromelia, Ventricular septal defect, Pulmonary hypoplasia... |
OMIM:256520 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radiouln... |
ORPHA:2319 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Long philtrum, Abnormal ... |
ORPHA:93298 |
Acalvaria |
|
Cleft palate, Abnormal lung lobation, Postaxial hand polydactyly, Omphalocele, Talipes |
ORPHA:945 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Upsla... |
OMIM:264480 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Flexion contracture, Upslanted palpebral fissure, Arachnodactyly, Thin vermilion bor... |
ORPHA:481152 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, P... |
OMIM:253010 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Sco... |
ORPHA:1937 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Short palpebral fissure, Cleft palate, Split foot, Oral cleft, Microphthalmia, W... |
OMIM:601349 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thin vermilion border, Osteopenia, Micrognathia, Delayed cranial suture closure, Bra... |
OMIM:601812 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrioventricular canal defect, Talipes equinovalgus, Short dis... |
ORPHA:1120 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Hypoplastic left heart, Cleft upper lip |
OMIM:236110 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Supernumerary nipple, Inguinal hernia, Micrognathia, Six lumbar vertebrae, Epic... |
OMIM:619122 |
Mcdonough Syndrome |
|
Diastasis recti, Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aor... |
OMIM:248950 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:179613 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Anal atresia, Talipes equinovarus, Prune belly, Autoimmune thrombocytopenia, Th... |
OMIM:601389 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Hand oligodact... |
OMIM:156810 |
Recombinant 8 Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Ventricular septal defect, Cleft up... |
ORPHA:96167 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, R... |
ORPHA:474 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Pulmonary hypoplasia, Bowing of the lon... |
ORPHA:50945 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cleft upper lip, Cleft palate, Short neck, Sco... |
OMIM:214300 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Sprengel anomaly, Cleft palate, Abno... |
ORPHA:2345 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... |
OMIM:208500 |
Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Shallow orbits, Delayed eruption of teeth, ... |
OMIM:101200 |
Codas Syndrome |
|
Atrioventricular canal defect, Congenital hip dislocation, Delayed eruption of teeth, Ventricular... |
OMIM:600373 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Cleft upper lip, Atrial septal defect, Cleft palate, Tracheoma... |
OMIM:612561 |
Silver-Russell Syndrome |
|
Clinodactyly of the 5th finger, Gastroesophageal reflux, Thin vermilion border, Micrognathia, Del... |
ORPHA:813 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... |
ORPHA:168549 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, ... |
ORPHA:2958 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Respiratory distress, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, B lym... |
ORPHA:83617 |
Kennerknecht syndrome |
|
High palate, Malrotation of colon, Toe clinodactyly, Hypodontia, Short neck, Thoracolumbar scolio... |
OMIM:600908 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Kyphosis, Pectus excavatum, Intestinal malrotation, Micrognath... |
ORPHA:77300 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Asthma, Upper eyelid edema, Aplasia/Hypoplasia of the eyebrow, Recurrent upper respi... |
ORPHA:293939 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Short palpebral fissure, Adducted thumb, Thin vermilion border, Short philtrum, Short neck, Bifid... |
OMIM:618622 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Cutaneous photosensitivity, Arthrogryposis multi... |
OMIM:616570 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pectus excavatum, Aortic root aneurysm, Umbilical hernia, Narrow maxilla, Cigarette-paper scars, ... |
OMIM:130000 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Enlarged thorax, Adducted thumb, Micrognathia, Camptodactyly of fing... |
ORPHA:2570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... |
OMIM:613153 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ... |
ORPHA:93299 |
Meier-Gorlin Syndrome 7 |
|
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... |
OMIM:617063 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Constricting Bands, Congenital |
|
Cleft upper lip, Talipes equinovarus, Abnormal rib cage morphology, Cleft palate, Syndactyly, Sco... |
OMIM:217100 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Upper limb undergrowth, Omphalocele, Lower ... |
OMIM:613630 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Craniosynosto... |
ORPHA:261197 |
Zttk Syndrome |
|
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short philtrum, Hemi... |
OMIM:617140 |
Acrorenal-Mandibular Syndrome |
|
High palate, Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplas... |
OMIM:200980 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Hepatomegaly, Single transverse palmar crease, Ventricular septal defect, Pulmonary ... |
OMIM:214100 |
Alg9-Cdg |
|
Wide mouth, Hepatomegaly, Shallow orbits, Short neck, Hepatic cysts, Ventricular septal defect, L... |
ORPHA:79328 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Cutis marmorata, Short neck, Advanced er... |
ORPHA:818 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, E... |
OMIM:618164 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Cleft upper lip, Short palpebral fissure, Malar flattening, Cleft... |
OMIM:612916 |
Bohring-Opitz Syndrome |
|
Tapered finger, Ventricular septal defect, Sacral dimple, Cleft upper lip, Deep plantar creases, ... |
OMIM:605039 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretrognathia, Cutan... |
OMIM:236500 |
Czeizel-Losonci Syndrome |
|
High palate, Ectrodactyly, Split foot, Upslanted palpebral fissure, Micrognathia, 2-3 finger synd... |
ORPHA:2437 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Areflexia of lower limbs, Hyporeflexia of lower limbs, Hyperlordosis, Arthrogryposis multiplex co... |
OMIM:162370 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Pectus excavatum, Cleft palate, Short philtrum, Congenital hip dislocation, Finger c... |
OMIM:617137 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Arachnodactyly, Abnormality of the dentition, Bilateral single transve... |
ORPHA:1548 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Pectus excavatum, Abnormal sternum morphology, Congenit... |
ORPHA:2847 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Sclerotic scapulae,... |
ORPHA:166119 |
Prieto Syndrome |
|
Talipes equinovarus, Inguinal hernia, Retrognathia, Abnormality of the dentition, 11 pairs of rib... |
OMIM:309610 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Sleep apnea, 2-3 toe syndactyly, Gastroesophageal reflux, Atrial septal defect, Equinus calcaneus... |
ORPHA:522077 |
Pierpont Syndrome |
|
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... |
ORPHA:487825 |
Fetal Alcohol Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Atrial septal defect, Congenital diaphragmatic he... |
ORPHA:1915 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transpos... |
OMIM:231060 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Partial duplication of thumb phalanx, Prominent metopic ridge, Short neck, S... |
OMIM:617926 |
Trisomy 18P |
|
Narrow mouth, Abnormality of finger, High, narrow palate, Upslanted palpebral fissure, Thin vermi... |
ORPHA:1715 |
Sprengel Deformity |
|
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Short n... |
ORPHA:3181 |
Jacobsen Syndrome |
|
Pectus excavatum, Short neck, Pyloric stenosis, Ventricular septal defect, U-Shaped upper lip ver... |
OMIM:147791 |
Distal Tetrasomy 15Q |
|
High palate, Hydrocele testis, Kyphosis, Abnormal sternum morphology, Atrial septal defect, Flexi... |
ORPHA:314588 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Single transverse palmar crease, Downslanted palpebral fissures, Sanda... |
OMIM:206920 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Upslanted palpebral fiss... |
ORPHA:3082 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Cleft palate, Micrognathia, Camptodactyly of finger, Respiratory ins... |
ORPHA:994 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Abnormality of the... |
ORPHA:666 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... |
OMIM:208540 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Osteopenia, Ventricular septal defect, Downslanted palpebral fissures, B... |
OMIM:249420 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, High palate, Narrow mouth, Respiratory distress, Short sternum, Short metaca... |
OMIM:266910 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Downslanted palpebral fissures,... |
ORPHA:280 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
Cleft Velum |
|
Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of the maxilla, Cleft soft palate,... |
ORPHA:99772 |
Cardioacrofacial Dysplasia 2 |
|
Narrow chest, Accessory oral frenulum, Clinodactyly of the 5th finger, Hypodontia, Atrioventricul... |
OMIM:619143 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Inguinal hernia, Joint laxity, Bilateral microphthalmos, Narrow palpebral fissur... |
OMIM:608763 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Recurrent aspiratio... |
OMIM:300484 |
2Q37 Microdeletion Syndrome |
|
Sparse eyebrow, Short neck, Pyloric stenosis, Abnormal aortic morphology, Umbilical hernia, Clino... |
ORPHA:1001 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Congenital diaphragmatic hernia, ... |
ORPHA:1166 |
Developmental And Epileptic Encephalopathy 89 |
|
Narrow chest, Talipes equinovarus, Microretrognathia, Cleft palate, Flexion contracture, Sparse e... |
OMIM:619124 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:601186 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Cl... |
OMIM:184250 |
Rare Circulatory System Disease |
|
Periostosis, Abnormal hand morphology, Abnormality of finger, Arterial calcification, Arterial to... |
ORPHA:98028 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Au-Kline Syndrome |
|
High palate, Overlapping toe, Pectus excavatum, Deep plantar creases, Cleft palate, Craniosynosto... |
OMIM:616580 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Hepatoblastoma, Inguinal hernia, Pursed lips, Coat hanger sign o... |
ORPHA:254519 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Cutaneous... |
OMIM:225000 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Cleft palate, Short neck, Umbilical hernia, Vertebral segmenta... |
ORPHA:2311 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Abnormal rib cage mor... |
OMIM:300209 |
Juberg-Hayward Syndrome |
|
Cleft upper lip, Abnormality of toe, Decreased response to growth hormone stimulation test, Highl... |
OMIM:216100 |
Distal Monosomy 10P |
|
Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Cleft palate, Microg... |
ORPHA:1580 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Lacrimal duct aplasia, Median cleft lip, Split hand... |
DECIPHER:46 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Downslanted pa... |
OMIM:612350 |
Fetal Akinesia Deformation Sequence 1 |
|
High palate, Elbow ankylosis, Cleft palate, Short neck, Pulmonary hypoplasia, Rocker bottom foot,... |
OMIM:208150 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Retrognathia, M... |
ORPHA:2849 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Pectus excavatum, Atrial septal defect, Malar flattening, Upslanted palpebral fissure,... |
OMIM:613458 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... |
OMIM:244600 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Pectus excavatum, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Lo... |
ORPHA:261349 |
Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Cleft palate, Delayed eruption of teeth, Single transverse pal... |
OMIM:247200 |
Roifman Syndrome |
|
Hepatomegaly, Prominent eyelashes, Single transverse palmar crease, Downslanted palpebral fissure... |
OMIM:616651 |
Saethre-Chotzen Syndrome |
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Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Clino... |
ORPHA:794 |
Basal Cell Nevus Syndrome |
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Cleft palate, Hemivertebrae, Down-sloping shoulders, Mandibular prognathia, Ovarian carcinoma, Pl... |
OMIM:109400 |
Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly, Truncus arteriosus |
OMIM:215850 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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High palate, Clinodactyly of the 5th finger, Pectus excavatum, Lumbar hyperlordosis, Inguinal her... |
OMIM:619451 |
Kyphomelic Dysplasia |
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Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... |
ORPHA:1801 |
Acrocallosal Syndrome |
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High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
Ulnar-Mammary Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormal clavicle morphology, Abnormality of the humerus, Pectus ... |
ORPHA:3138 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Downslanted palpeb... |
OMIM:257850 |
Cleidocranial Dysplasia |
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Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Ellis-Van Creveld Syndrome |
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Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... |
OMIM:225500 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Omphalocele, ... |
OMIM:614450 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
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Cleft upper lip, Cleft palate, Preaxial hand polydactyly |
OMIM:601420 |
Trisomy 8Q |
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High palate, Joint stiffness, Bone cyst, Cleft palate, Upslanted palpebral fissure, Everted lower... |
ORPHA:1752 |
8Q24.3 Microdeletion Syndrome |
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Respiratory distress, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal... |
ORPHA:508488 |
Gonadal dysgenesis, xy type, with associated anomalies |
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Cleft upper lip, Abnormal heart morphology, Oral cleft |
OMIM:233430 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
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High palate, Pectus excavatum, Craniosynostosis, Downslanted palpebral fissures, Pyloric stenosis... |
ORPHA:314575 |
Meier-Gorlin Syndrome 3 |
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Downslanted palpebral fissures, Hypoplasia of the maxilla, Absent sternal ossification, Talipes e... |
OMIM:613803 |
Monosomy 5P |
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High palate, Recurrent fractures, Microretrognathia, Inguinal hernia, Small hand, Short neck, Sco... |
ORPHA:281 |
Raine Syndrome |
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High palate, Wide mouth, Pectus excavatum, Cleft palate, Short neck, Micromelia, Microdontia, Dow... |
OMIM:259775 |
Oculomaxillofacial Dysostosis |
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Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Upslanted palpebral fissure, ... |
ORPHA:1794 |
Autosomal Recessive Robinow Syndrome |
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Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short neck, Pectus ca... |
ORPHA:1507 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic st... |
ORPHA:3304 |
Scimitar Syndrome |
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Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Desbuquois Dysplasia 2 |
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Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Pla... |
OMIM:615777 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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High palate, Anal atresia, Dental crowding, Pectus excavatum, Atrial septal defect, Congenital di... |
OMIM:617602 |
Meckel Syndrome, Type 8 |
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Cleft upper lip, Cleft palate, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydactyly,... |
OMIM:613885 |
Restrictive Dermopathy 1 |
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Sparse eyebrow, Decreased calvarial ossification, Ankylosis, Pulmonary hypoplasia, Rocker bottom ... |
OMIM:275210 |
Richieri-Costa/Guion-Almeida Syndrome |
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Cleft upper lip, Pectus excavatum, Cleft palate, Malar flattening, Palmoplantar cutis laxa, Spina... |
OMIM:268850 |
Opitz Gbbb Syndrome |
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High palate, Cleft palate, Craniosynostosis, Tracheoesophageal fistula, Downslanted palpebral fis... |
ORPHA:2745 |
Diastrophic Dysplasia |
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Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... |
OMIM:263540 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Malar flattening, Sparse eyebrow, Sparse ey... |
OMIM:225060 |
Blepharonasofacial Malformation Syndrome |
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Tooth agenesis, Cleft palate, Inguinal hernia, Long philtrum, Telecanthus, Epicanthus, Sparse lat... |
ORPHA:1252 |
Holoprosencephaly |
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Short neck, Ventricular septal defect, Median cleft lip and palate, Solitary median maxillary cen... |
ORPHA:2162 |
Mucopolysaccharidosis Type 7 |
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Joint stiffness, Enlarged thorax, Arteriovenous malformation, Inguinal hernia, Abnormal hip bone ... |
ORPHA:584 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Pectus excavatum, Finger joint hypermobility, Monkey wrench femoral neck, Micromelia, Single tran... |
OMIM:618870 |
Stankiewicz-Isidor Syndrome |
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2-3 toe syndactyly, Absent thumb, Retrognathia, Micrognathia, Ventricular septal defect, Truncus ... |
OMIM:617516 |
Monosomy 18P |
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Enlarged thorax, Pectus excavatum, Kyphoscoliosis, Tooth malposition, Cleft palate, Hypodontia, M... |
ORPHA:1598 |
Osteogenesis Imperfecta, Type Xiii |
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Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Thin verm... |
OMIM:614856 |
Thomas Syndrome |
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Cleft upper lip, Downslanted palpebral fissures, Hypoplastic left heart, Cleft palate |
ORPHA:3316 |
Thymic Aplasia With Fetal Death |
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Stillbirth, Truncus arteriosus |
OMIM:274210 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Craniolenticulosutural Dysplasia |
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High palate, Narrow chest, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac... |
ORPHA:50814 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Aortic root aneurysm, Umbilical h... |
OMIM:618000 |
Dental Anomalies And Short Stature |
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Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia, Herniation of ... |
OMIM:601216 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Femor... |
OMIM:114290 |
Spondylometaphyseal Dysplasia, Axial |
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Narrow chest, Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib ... |
OMIM:602271 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cleft upper lip, Ptosis, Cleft palate, Microphthalmia |
OMIM:120433 |
Kyphomelic Dysplasia |
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Cleft palate, Femoral bowing, Platyspondyly, Micromelia, Pterygium, Dumbbell-shaped humerus, Thor... |
OMIM:211350 |
Fetal Akinesia Deformation Sequence 4 |
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High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... |
OMIM:618393 |
Alg3-Cdg |
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High palate, Abnormal uvula morphology, Macroglossia, Osteopenia, Coarctation of the descending a... |
ORPHA:79321 |
Renpenning Syndrome |
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Sprengel anomaly, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Pectus excavatum... |
ORPHA:3242 |
Spondylospinal Thoracic Dysostosis |
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Multiple pterygia, Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla, Arthrogryposis ... |
OMIM:601809 |
Desbuquois Syndrome |
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Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
CantĂș Syndrome |
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Wide mouth, Short neck, Platyspondyly, Long eyelashes, Broad ribs, Ovoid vertebral bodies, Umbili... |
ORPHA:1517 |
Prune Belly Syndrome |
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Vertebral segmentation defect, Anal atresia, Pectus excavatum, Talipes equinovarus, Intestinal at... |
ORPHA:2970 |
Zellweger Syndrome |
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High palate, Malabsorption, Abnormality of the tongue, Hepatomegaly, Wide anterior fontanel, Upsl... |
ORPHA:912 |
Trisomy 18 |
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Cleft palate, Abnormality of the upper limb, Ventricular septal defect, Omphalocele, Anal atresia... |
ORPHA:3380 |
X-Linked Non-Syndromic Intellectual Disability |
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2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Long palpebral fissure, Lo... |
ORPHA:777 |
Kleefstra Syndrome |
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Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... |
ORPHA:261494 |
Van Der Woude Syndrome 2 |
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Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Cooper-Jabs Syndrome |
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Congenital diaphragmatic hernia, Malar flattening, Abnormal hip bone morphology, Reduced bone min... |
ORPHA:1488 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Accessory oral frenulum, Atrial septal defect, Cleft palate, Malar flattening, Upslanted palpebra... |
ORPHA:79113 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Wide mouth, Pectus excavatum, Thick eyebrow, Upslanted palpebral fissure, Small hand, Broad finge... |
OMIM:614684 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... |
OMIM:613091 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Delayed eruption of t... |
OMIM:101800 |
Marden-Walker Syndrome |
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Pectus excavatum, Cleft palate, Pectus carinatum, Radioulnar synostosis, Pyloric stenosis, Ventri... |
ORPHA:2461 |
Rapp-Hodgkin Syndrome |
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Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Absent lac... |
OMIM:129400 |
3Mc Syndrome 2 |
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Cleft upper lip, Diastasis recti, Cleft palate, Craniosynostosis, Abnormality of the vertebral co... |
OMIM:265050 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Wide mouth, Pectus excavatum, Short metacarpal, Short neck, Platyspondyly, Small epiphyses, Short... |
OMIM:611717 |
X-Linked Intellectual Disability, Abidi Type |
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Pectus excavatum, Cleft palate, Scoliosis, Decreased testicular size, Non-midline cleft lip |
ORPHA:85273 |
Charlie M Syndrome |
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Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... |
ORPHA:1406 |
Stickler Syndrome |
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