Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... |
OMIM:201020 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... |
OMIM:206920 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly |
OMIM:613885 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic ridge |
OMIM:275595 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Cloverleaf skull, Craniosynostosis, Oxycephaly,... |
ORPHA:65759 |
Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
Trisomy 13 |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Bi... |
ORPHA:3378 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Isolated Brachycephaly |
|
Midface retrusion, Brachydactyly, Metacarpal synostosis, Brachycephaly |
ORPHA:35099 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal cran... |
OMIM:614188 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Abnormality of the ulna, Genu varum, Brachycephaly, Aplasia/Hypoplasia of the ... |
ORPHA:2633 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Congenital hip dislocation |
OMIM:164180 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Anophthalmia, Arachnodactyly, Polyhydramnios, Frontal bossing, Incre... |
ORPHA:261344 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Talipes equinovarus, Mitral regurgitation, Anophthalmia, Aniridia, Ulnar deviation... |
ORPHA:1101 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, Brachycephaly |
ORPHA:66625 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
Muenke Syndrome |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... |
OMIM:602849 |
Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short p... |
ORPHA:3210 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Aminopterin Syndrome Sine Aminopterin |
|
Intrauterine growth retardation, Umbilical hernia, Brachycephaly, Joint contracture of the hand, ... |
OMIM:600325 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... |
ORPHA:1540 |
Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Midface retrusion, Aortic val... |
OMIM:300960 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
Craniosynostosis 2 |
|
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal... |
OMIM:604757 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Polyhydramnios, Postaxial hand polydactyly, Micromelia |
ORPHA:2189 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... |
ORPHA:139471 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Abnormality of finger, Abn... |
ORPHA:2511 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Deviation of finger, Spina bifida |
ORPHA:1104 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis |
OMIM:614416 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Omphalocele, Microphthalmia |
OMIM:248450 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Tibial bowi... |
ORPHA:1106 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... |
OMIM:123150 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Bradycardia, Brachycephaly |
ORPHA:2898 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Split hand, Finger syndactyly, ... |
ORPHA:2145 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Polydactyly, Short 5th finger, Small placenta, Frontal bossing, ... |
ORPHA:397590 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Microphthalmia, Phocomelia, Anophthalmia, Aplastic clavicle, Abnormality of the ra... |
ORPHA:2538 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachycephaly, Limb undergrowth, Thin calvarium, Massively thickened long bone cortices, Micromel... |
OMIM:122900 |
Meckel Syndrome, Type 11 |
|
Oligohydramnios, Polydactyly |
OMIM:615397 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Wormian bones, Parietal foramina, Turricephaly, Brachydactyly, Single transverse p... |
OMIM:601224 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Midface retrusion, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Prom... |
OMIM:617895 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Prominent metopic ridge, Partial duplication of thumb phalanx, Central Y-shaped meta... |
OMIM:617926 |
Bardet-Biedl Syndrome 8 |
|
Polydactyly, Brachycephaly |
OMIM:615985 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, Central Y-shape... |
OMIM:277170 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Short lower limbs, Polyhydramnios, Abnormally large globe, Rhizomelic arm shortening, Abnormality... |
ORPHA:96190 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia, Craniosynostosis, Proboscis, Frontal bossing, Postaxial hand polydac... |
OMIM:605627 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Ascites, Bowing of the long bones, Hydr... |
OMIM:614091 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Toe syndactyly, Midface retrusion, Brachycephaly, Aplasia/Hypoplasia of the... |
ORPHA:93258 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Brachycephaly, Metaphyseal widening, Wo... |
OMIM:309400 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:300804 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Small hand, Proximal... |
OMIM:300590 |
Meckel Syndrome, Type 2 |
|
Meningocele, Microphthalmia, Polydactyly, Intrauterine growth retardation, Bowing of the long bon... |
OMIM:603194 |
Craniofrontonasal Dysplasia |
|
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... |
ORPHA:1520 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Adducted thumb, Talipes equinovarus, Brachycephaly, Mitral regurgitation, Arachnodactyly, Frontal... |
OMIM:615539 |
14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Short 5th metacarpal, Brachycephaly, Anophthalmia, Finger syndactyly, Short foot,... |
ORPHA:264200 |
Au-Kline Syndrome |
|
Postaxial polydactyly, Craniosynostosis, Hip dysplasia, Dolichocephaly, Deep palmar crease, Overl... |
OMIM:616580 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Polydactyly, Camptodactyly |
OMIM:614815 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Tapered finger, Trigonocephaly, Postaxial polydactyly, Brachycephaly, Macular hypop... |
OMIM:613792 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Postaxial polydactyly, Preaxial polydactyly, Over... |
OMIM:618142 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Delayed closure of the anterio... |
ORPHA:231140 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... |
OMIM:615986 |
Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... |
OMIM:201000 |
Pentasomy X |
|
Plagiocephaly, Small hand, Short foot, Hip dysplasia, Camptodactyly of finger, Clinodactyly of th... |
ORPHA:11 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Abnormal... |
ORPHA:163649 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... |
ORPHA:1505 |
Ivic Syndrome |
|
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... |
OMIM:147750 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Edema... |
OMIM:302960 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Hypoplasia of the radius, Polyhydr... |
ORPHA:3412 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Microphthalmia, Polydactyly |
OMIM:602501 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Short long bone, Brachydactyly, Postaxial polydactyly |
OMIM:615633 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Rocker bottom foot, Wrist flexion contracture, Hip dislocation, Scaphocephaly, Oli... |
ORPHA:1143 |
Pseudodiastrophic Dysplasia |
|
Midface retrusion, Talipes equinovarus, Brachycephaly, Rhizomelia, Frontal bossing, Camptodactyly... |
OMIM:264180 |
Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Frontal bossing |
ORPHA:35098 |
Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Plagiocephaly, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... |
OMIM:605282 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... |
ORPHA:56304 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Polydactyly, Short finger |
OMIM:182230 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Postaxial polydactyly, Tapered finger, Brachycephaly, Congenital pseudoarthrosis ... |
ORPHA:435638 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Microphthalmia |
OMIM:615877 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Joubert Syndrome 32 |
|
Frontal bossing, Hypertrophic cardiomyopathy, Postaxial polydactyly |
OMIM:617757 |
Acromelic Frontonasal Dysostosis |
|
Polydactyly, Talipes equinovarus, Brachycephaly, Preaxial polydactyly, Syndactyly |
OMIM:603671 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Tapered finger, Brachycephaly, Small hand, Hip dysplasia, Dolichocephaly, Prominen... |
OMIM:618672 |
Pde4D Haploinsufficiency Syndrome |
|
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Thickened calvaria, Con... |
ORPHA:439822 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Optic nerve hypoplasia, ... |
OMIM:618736 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Focal Dermal Hypoplasia |
|
Omphalocele, Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Short phalanx of finge... |
OMIM:305600 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Hallux valgus, Intrauterine growth retardation, Brachycephaly, Cubitus valgus, Sp... |
ORPHA:1327 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Dilated cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Camptodact... |
ORPHA:272 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Intrauterine growth retardation |
ORPHA:90322 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Laurence-Moon Syndrome |
|
Brachycephaly, Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, B... |
ORPHA:2377 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Frontal bossing |
OMIM:206900 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Bowing of the long bones, Wor... |
ORPHA:2097 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... |
OMIM:617866 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Ulnar deviation of the w... |
OMIM:618577 |
Matthew-Wood Syndrome |
|
Anophthalmia, Intrauterine growth retardation, Microphthalmia |
ORPHA:2470 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Thickened calvaria, Brachycephaly, Avascular necrosis of the capital femoral epiph... |
OMIM:304950 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of the 3rd finge... |
OMIM:618821 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Genu valgum, Hip subluxation, S... |
OMIM:618853 |
Holoprosencephaly |
|
Flat occiput, Omphalocele, Microphthalmia, Anophthalmia, Frontal bossing, Branchial anomaly, Hand... |
ORPHA:2162 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... |
OMIM:615994 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Frontal bossing,... |
OMIM:169400 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Polydactyly, Hypoplasia of the fovea, Ascites, Umbilical hernia, Edema, Abnormal ... |
ORPHA:93400 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Large fontanelles, Brachycephaly, Bowing of the long bones, Craniosynostosis, Tur... |
ORPHA:171839 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia, Metatarsus valgus |
ORPHA:899 |
Otofacioosseous-Gonadal Syndrome |
|
Talipes equinovarus, Brachycephaly, Wormian bones, Genu valgum, Frontal bossing, Carpal synostosi... |
OMIM:601976 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Adducted thumb, Ascites, Decreased ... |
OMIM:616897 |
Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Adducted thumb, Talipes equinovarus, Pericardial effusion, Hand clenching, Edema, ... |
OMIM:617822 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Muenke Syndrome |
|
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... |
ORPHA:53271 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Arthrogryposis, Distal, Type 4 |
|
Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, Camptodactyly of 2nd-5th... |
OMIM:609128 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Anophthalmia, Pulmonic stenosis, Bilateral microphthalmos, Ingui... |
OMIM:601186 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Brachycephaly, Tapered finger, Short finger, Short toe, Brachydactyly |
OMIM:610680 |
Martsolf Syndrome 1 |
|
Metatarsus adductus, Microphthalmia, Slender ulna, Talipes equinovarus, Brachycephaly, Cardiomyop... |
OMIM:212720 |
Acrodysostosis |
|
Abnormality of the ulna, Cone-shaped epiphysis, Midface retrusion, Epiphyseal stippling, Brachyce... |
ORPHA:950 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Protrusio acetabuli, Sclerotic cranial sutures, Distal tapering of metatarsals, Metacarpal osteol... |
OMIM:259600 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Mitral regurgitation, Frontal bossing, Postaxial polydactyly |
OMIM:603387 |
Chromosome 2Q37 Deletion Syndrome |
|
Brachycephaly, Short metatarsal, Short metacarpal, Short toe, Midface retrusion, Short phalanx of... |
OMIM:600430 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly |
OMIM:618089 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly |
OMIM:129540 |
Craniosynostosis 6 |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... |
OMIM:616602 |
Microphthalmia, Syndromic 6 |
|
Plagiocephaly, Toe syndactyly, Short middle phalanx of finger, Microphthalmia, Polydactyly, Singl... |
OMIM:607932 |
Meckel Syndrome |
|
Microphthalmia, Anophthalmia, Bowing of the long bones, Aplasia/Hypoplasia of the iris, Oligohydr... |
ORPHA:564 |
Endocrine-Cerebroosteodysplasia |
|
Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, ... |
OMIM:612651 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Tarsal synostosis, Plagiocephaly, Brachycephaly, Frontal bossing, Carpal synostosis, Humeroradial... |
OMIM:236410 |
Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Midface retrusion, Dolichocephaly |
OMIM:618774 |
Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Brachycephaly |
OMIM:612247 |
Monosomy 18P |
|
Hypertension, Microphthalmia, Brachycephaly, Brachydactyly, Lymphedema |
ORPHA:1598 |
German Syndrome |
|
Brachycephaly, Camptodactyly of finger, Midface retrusion, Dolichocephaly, Lymphedema |
ORPHA:2077 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Brachycephaly, Metaphyseal widening, Polyhydramnios, Wi... |
OMIM:263210 |
Joubert Syndrome 37 |
|
Frontal bossing, Prominent metopic ridge, Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Microgastria-Limb Reduction Defects Association |
|
Hand oligodactyly, Phocomelia, Anophthalmia, Hypoplasia of the radius, Absent thumb, Hypoplasia o... |
OMIM:156810 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyly, Hand polyda... |
OMIM:258860 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Genu valgum, Midface retrusion, Postaxial polydactyly |
OMIM:619142 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Craniosynostosis, Trigonocephaly, Brachydactyly |
OMIM:618265 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Bresek Syndrome |
|
Plagiocephaly, Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Postaxial... |
ORPHA:85284 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Brachycephaly, Finger syndactyly |
ORPHA:1514 |
Contractural Arachnodactyly, Congenital |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Congenital finger flexion contractures,... |
OMIM:121050 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Brachycephaly, Edema, Frontal bossing, Hip dislocation |
OMIM:608776 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Polyhydramnios |
ORPHA:521390 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Intrauterine growth retardation, Umbilical hernia, Short distal phalanx of toe, Brachycephaly, Sy... |
ORPHA:1292 |
Achard Syndrome |
|
Arachnodactyly, Broad skull, Brachycephaly |
OMIM:100700 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Rocker bottom foot, Brachycephaly, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Frontal boss... |
OMIM:207410 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Turricephaly, Brachydactyly |
ORPHA:93262 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Oligohydramnios,... |
ORPHA:228390 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... |
OMIM:600775 |
Tarp Syndrome |
|
Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Large fontanelles, H... |
OMIM:311900 |
Hydrolethalus Syndrome 2 |
|
Preaxial polydactyly, Postaxial polydactyly |
OMIM:614120 |
Cranioectodermal Dysplasia 2 |
|
Plagiocephaly, Hypertension, Polydactyly, Cloverleaf skull, Metopic synostosis, Rhizomelia, Hydro... |
OMIM:613610 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Brachycephaly, Large fontan... |
OMIM:219150 |
Acrofrontofacionasal Dysostosis 2 |
|
Brachycephaly, Wide anterior fontanel, Syndactyly, Broad hallux, Hand polydactyly, Broad thumb |
OMIM:239710 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral b... |
OMIM:615503 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Abnormality of the metaphysis... |
ORPHA:2780 |
Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Frontal bossing, Wide ant... |
OMIM:608545 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Omphalocele, Tarsal synostosis, Thickened calvaria, Myelomeningocele, Large font... |
ORPHA:90652 |
Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies |
|
Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Edema of the dorsum o... |
OMIM:600159 |
Meckel Syndrome, Type 10 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:614175 |
Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Pulmonic stenosis, Frontal bossing, Wide cranial sutures, Scaphocephaly, Clinodact... |
OMIM:619149 |
Acrofrontofacionasal Dysostosis |
|
Midface retrusion, Brachycephaly, Abnormality of epiphysis morphology, Short distal phalanx of fi... |
ORPHA:1784 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Brachycephaly, Broad distal phalanx of... |
ORPHA:404440 |
Cleidocranial Dysplasia |
|
Short clavicles, Midface retrusion, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysi... |
ORPHA:1452 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Pulmonic stenosis, Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve |
ORPHA:137634 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Short distal phalanx of finger, Coxa valga, Clino... |
ORPHA:2163 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Microphthalmia, Talipes equinovarus, Hammertoe, Anophthalmia, Hand clenching,... |
OMIM:300166 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Intrauterine growth retardation, Polydactyly, Joint contracture of the hand, Polyhyd... |
OMIM:247200 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... |
OMIM:274000 |
Hamamy Syndrome |
|
Mitral regurgitation, Tapered finger, Brachycephaly, Long fingers, Craniosynostosis, Down-sloping... |
OMIM:611174 |
Joubert Syndrome 14 |
|
Hypertension, Microphthalmia, Postaxial polydactyly |
OMIM:614424 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Midface retrusion |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Unicoronal ... |
OMIM:616300 |
Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Optic disc hypoplasia, Pectoral... |
OMIM:607323 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly |
OMIM:615824 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Trigonocephaly, Small hand, Bilateral single transverse palmar creases, Scaphoceph... |
ORPHA:459061 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly, 2-3 toe syndactyly, Sinus bradycardia, Mitral regurgitation, Increased carrying an... |
OMIM:261990 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Hypertension |
ORPHA:90321 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Hunter-Macdonald Syndrome |
|
Metatarsus adductus, 2-3 toe syndactyly, Hypertension, Midface retrusion, Large fontanelles, Brac... |
OMIM:611962 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Midface retrusion |
OMIM:218350 |
Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Aortic regurgitation, Crani... |
ORPHA:254346 |
Antley-Bixler Syndrome |
|
Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Frontal bos... |
ORPHA:83 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, Clinodactyly, Inguinal hernia, Brachydactyly, Single transverse palmar crease |
OMIM:618950 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Abnormality of femur morphology, Abnormality of the upper limb, Upper limb asymmet... |
ORPHA:2063 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Lymphedema, Microphthalmia, Anophthalmia, Edema, Pleural effusion, Chylothorax |
ORPHA:2526 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Hallux valgus, Buphthalmos, Toe syndactyly, Plagiocephaly, Lambdoidal cr... |
OMIM:101400 |
20Q11.2 Microduplication Syndrome |
|
Severe intrauterine growth retardation, Brachycephaly, Trigonocephaly, Short foot, Limited elbow ... |
ORPHA:363659 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly, Palmar edema, Broad distal phalanx of finger, Enlarged interphalangeal joints, Pro... |
ORPHA:2988 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Decreased calvarial ossification, Microphthalmia, Postaxial polydacty... |
OMIM:617925 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Brachycephaly, Joint contracture of the hand, Hip dysplasia, Camptodactyly |
OMIM:611961 |
Cranioectodermal Dysplasia 3 |
|
Postaxial polydactyly, Sagittal craniosynostosis, Sandal gap, Frontal bossing, Scaphocephaly, Syn... |
OMIM:614099 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Talipes equinovarus, Tapered finger, Trigonocephaly, Brachycephaly, Prominent met... |
OMIM:619148 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Microphthalmia, Large fontanelles, Brachycephaly, Fifth finger distal phalanx c... |
OMIM:257850 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly |
OMIM:607361 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia, Inguinal hernia |
ORPHA:2250 |
Cooper-Jabs Syndrome |
|
Brachycephaly, Proximal placement of thumb, Frontal bossing, Camptodactyly of finger, Abnormal hi... |
ORPHA:1488 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Talipes equinovarus, Spatulate thumbs, Abnormally large globe, Broad distal phalan... |
OMIM:245600 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Microphthalmia, Mitral regurgitation, Anopht... |
ORPHA:2556 |
Cdags Syndrome |
|
Short clavicles, Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closur... |
OMIM:603116 |
Fraser Syndrome |
|
Omphalocele, Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Wide pubic symphysis... |
ORPHA:2052 |
Adnp Syndrome |
|
Plagiocephaly, 2-3 toe syndactyly, Polydactyly, Umbilical hernia, Brachycephaly, Trigonocephaly, ... |
ORPHA:404448 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly |
OMIM:613456 |
2P15P16.1 Microdeletion Syndrome |
|
Metatarsus adductus, Intrauterine growth retardation, Mitral regurgitation, Tapered finger, Brach... |
ORPHA:261349 |
Charge Syndrome |
|
Omphalocele, Bifid femur, Absent tibia, Microphthalmia, Hand monodactyly, Anophthalmia, Polyhydra... |
OMIM:214800 |
Fraser Syndrome 1 |
|
Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Aplasia/Hypoplasia of the thumb, Wid... |
OMIM:219000 |
Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pits, Parietal bossing,... |
OMIM:109400 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Metatarsus adductus, Long palm, Talipes equinovarus, Tapered finger, Ulnar deviati... |
ORPHA:2215 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Hypertension, Brachycephaly, Osteolysis involving bones of the lower limbs, Atrioven... |
ORPHA:371428 |
Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
Fibrochondrogenesis |
|
Plagiocephaly, Omphalocele, Hypoplastic scapulae, Abnormality of the metaphysis, Wide anterior fo... |
ORPHA:2021 |
Pseudoaminopterin Syndrome |
|
Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Slender finger, F... |
ORPHA:221120 |
Charge Syndrome |
|
Bifid femur, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Polyhydramnios, Clino... |
ORPHA:138 |
Orofaciodigital Syndrome Type 6 |
|
Mesoaxial polydactyly, Foot polydactyly, Preaxial polydactyly, Frontal bossing, Syndactyly, Bipar... |
ORPHA:2754 |
Dysostosis, Stanescu Type |
|
Brachycephaly, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the ... |
ORPHA:1798 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Hip dysplasia, Polydactyly |
ORPHA:531151 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Rhombencephalosynapsis |
|
Polydactyly, Septo-optic dysplasia, Complete duplication of thumb phalanx, Finger syndactyly, Sho... |
ORPHA:59315 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad palm, Intrauterine growth retardation, Epiphyseal stippling, Brachycephaly, Short metatarsa... |
OMIM:101800 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:611560 |
Baller-Gerold Syndrome |
|
Brachyturricephaly, Aplasia/Hypoplasia of the patella, Hand oligodactyly, Intrauterine growth ret... |
ORPHA:1225 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hip dysplasia, Intrauterine growth retardation, Peau d'orange, Postaxial polydactyly |
OMIM:614576 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Broad hallux, Duplication of phalanx of hallux |
OMIM:180750 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Broad palm, Mitral regurgitation, Brachycephaly, Microspherophakia, Pulmonic st... |
OMIM:277600 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Tib... |
ORPHA:175 |
Weill-Marchesani Syndrome 2 |
|
Broad metatarsal, Broad palm, Flexion contracture of toe, Mitral regurgitation, Short finger, Bra... |
OMIM:608328 |
Craniofacial Microsomia |
|
Anophthalmia, Branchial anomaly, Microphthalmia |
OMIM:164210 |
Cree Mental Retardation Syndrome |
|
Large fontanelles, Cutaneous finger syndactyly, Rocker bottom foot, Brachycephaly |
OMIM:606851 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Talipes equinovarus, Metacarpal synostosis, Cubitus valgus, Turricephaly, Limited elbow extension... |
ORPHA:95699 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Hallux valgus, Triphalangeal thumb, Brachycephaly, Craniosynostosis, Finger syndac... |
ORPHA:794 |
Orofaciodigital Syndrome I |
|
Hypertension, Polydactyly, Myelomeningocele, Abnormality of toe, Radial deviation of finger, Fron... |
OMIM:311200 |
Hallermann-Streiff Syndrome |
|
Hypertension, Telangiectasia, Microphthalmia, Brachycephaly, Metaphyseal widening, Pulmonary arte... |
OMIM:234100 |
Craniosynostosis-Fibular Aplasia Syndrome |
|
Fibular aplasia, Large fontanelles, Brachycephaly, Wormian bones, Bilateral single transverse pal... |
ORPHA:1533 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Proximal placement of thumb, Branc... |
OMIM:113620 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Intrauterine growth retardation, Postaxial polydactyly, Tricuspid regurgitation, Fro... |
OMIM:618460 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Plagiocephaly, Postaxial polydactyly, Optic nerve hypoplasia, Hip dysplasia, Broad hallux, Promin... |
ORPHA:457284 |
Carpenter Syndrome 2 |
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Cutaneous finger syndactyly, Midface retrusion, Talipes equinovarus, Aplasia of the middle phalan... |
OMIM:614976 |
Opitz-Kaveggia Syndrome |
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Plagiocephaly, Umbilical hernia, Delayed closure of the anterior fontanelle, Joint contracture of... |
OMIM:305450 |
Frank-Ter Haar Syndrome |
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Flat occiput, Bilateral talipes equinovarus, Buphthalmos, Metatarsus adductus, Talipes equinovaru... |
OMIM:249420 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Polysyndactyly of hallux, Brachycephaly, Hydrops fetalis, Disproportionate shortening of the tibi... |
OMIM:263520 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Buphthalmos, Tapered finger, Brachycephaly, Long fingers, Rieger anomaly, Prominent metopic ridge... |
ORPHA:521445 |
Sweeney-Cox Syndrome |
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Short clavicles, Brachycephaly, Long fingers, Wide anterior fontanel, Prominent metopic ridge, Mi... |
OMIM:617746 |
Meier-Gorlin Syndrome 7 |
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2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Craniosynostosis, Club... |
OMIM:617063 |
Conotruncal Heart Malformations |
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Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Tarp Syndrome |
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Intrauterine growth retardation, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, ... |
ORPHA:2886 |
Aymé-Gripp Syndrome |
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Plagiocephaly, Reduced arm span, Pericarditis, Pericardial effusion, Rocker bottom foot, Tapered ... |
ORPHA:1272 |
Joubert Syndrome 21 |
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Anophthalmia |
OMIM:615636 |
Bardet-Biedl Syndrome 1 |
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Hypertension, Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Sy... |
OMIM:209900 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Flat occiput, Broad hallux phalanx, Large fontanelles, Brachycephaly, Broad thumb, Finger syndact... |
ORPHA:2211 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Proboscis |
ORPHA:141099 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Meningocele, Early oss... |
ORPHA:397715 |
Monosomy 9Q22.3 |
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Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits, Trigonocephaly, Umbilical hernia |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Polyhydramnios, Preaxial polydactyly, Micromelia, Hydro... |
OMIM:616546 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Tapered finger, Postaxial polydactyly, Brachycephaly, Small hand, Hip dislocation, Short foot, Hi... |
OMIM:300968 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Tapered finger, Brachycephaly, Frontal bossing, Bilateral single transverse palma... |
ORPHA:1236 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
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Preaxial polydactyly |
ORPHA:2921 |
Duane Retraction Syndrome |
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Plagiocephaly, Triphalangeal thumb, Talipes equinovarus, Aniridia, Hypoplastic iris stroma, Optic... |
ORPHA:233 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Scaphocephaly, Wide anterior fontanel, Cranial asymmetry, Delayed closure of the anterior fontanelle |
OMIM:614886 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Tarsal synostosis, Large posterior fontanelle, Plagiocephaly, Brachycephaly, Aplastic clavicle, P... |
ORPHA:85199 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short 1st metacar... |
ORPHA:96334 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Aortic regurgitation... |
ORPHA:464306 |
Turnpenny-Fry Syndrome |
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Plagiocephaly, Prominent interphalangeal joints, Intrauterine growth retardation, Adducted thumb,... |
OMIM:618371 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Prominent metopic ridge, Polydactyly |
ORPHA:314655 |
Humeroradial Synostosis |
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Humeroradial synostosis, Brachycephaly |
OMIM:236400 |
Ventriculomegaly With Cystic Kidney Disease |
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Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
Degcags Syndrome |
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Plagiocephaly, Toe syndactyly, Microphthalmia, Polydactyly, Talipes equinovarus, Intrauterine gro... |
OMIM:619488 |
Choanal Atresia |
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Craniosynostosis, Polydactyly |
ORPHA:137914 |
Nephronophthisis 13 |
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Polydactyly |
OMIM:614377 |
Neurofaciodigitorenal Syndrome |
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Plagiocephaly, Triphalangeal thumb, Intrauterine growth retardation, Abnormality of the elbow, Br... |
ORPHA:2673 |
Culler-Jones Syndrome |
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Midface retrusion, Postaxial polydactyly |
OMIM:615849 |
Pallister-Hall Syndrome |
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Polydactyly affecting the 4th finger, Broad toe, Mesoaxial polydactyly, Short 4th metacarpal, Umb... |
ORPHA:672 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Toe syndactyly, Hallux valgus, Tubular metacarpal bones, Intrauterine growth retardation, Camptod... |
OMIM:211910 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Rocker bottom foot, Postaxial polydactyly, Long fingers, Edema, Palmoplantar hyperhidrosis, Singl... |
OMIM:617527 |
Linear Nevus Sebaceus Syndrome |
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Plagiocephaly, Microphthalmia, Biparietal narrowing, Frontal bossing, Prominent occiput |
ORPHA:2612 |
Okamoto Syndrome |
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Omphalocele, Polydactyly, Abnormally large globe, Hip dysplasia, Oligohydramnios, Prominent metop... |
ORPHA:2729 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Brachycephaly, Short metacarpal, Short distal phalanx of finger, Acetabular dyspl... |
OMIM:201180 |
Rubinstein-Taybi Syndrome 1 |
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Radial deviation of thumb terminal phalanx, Syndactyly, Broad hallux, Delayed cranial suture clos... |
OMIM:180849 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Abnormality of toe, Cranial asymmetry, Abnormality of finger |
OMIM:163200 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Short 5th toe, Intrauterine growth retardation, Polydactyly, Tapered finger, Aorti... |
ORPHA:268261 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Craniosyn... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Craniosyn... |
ORPHA:352665 |
Microphthalmia, Syndromic 1 |
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Short clavicles, Microphthalmia, Anophthalmia, Joint contracture of the hand, Radial deviation of... |
OMIM:309800 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Broad palm, Metatarsus adductus, Brachycephaly, Down-sloping shoulders, Short foot, Syndactyly, C... |
OMIM:227330 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Short greater sciatic notch, Talipes equinovarus, Broad toe, 2-3 finger syndactyly, Umbilical her... |
OMIM:312870 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Left-to-right shunt, Polydactyly, Ascites, Postaxial polydactyly, Edema, Broad first metatarsal, ... |
OMIM:619534 |
Ayme-Gripp Syndrome |
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Pericarditis, Tapered finger, Brachycephaly, Craniofacial asymmetry, Delayed cranial suture closu... |
OMIM:601088 |
Faciocardiorenal Syndrome |
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Plagiocephaly, Toe syndactyly, Broad hallux, Clinodactyly, Inguinal hernia |
OMIM:227280 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Tarsal synostosis, Rocker bottom foot, Cloverleaf skull, Brachycephaly, Craniosynostosis, Ulnar b... |
OMIM:201750 |
Bardet-Biedl Syndrome 20 |
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Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:619471 |
Legius Syndrome |
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Clinodactyly of the 5th finger, Paroxysmal atrial tachycardia, Polydactyly, Pulmonic stenosis |
ORPHA:137605 |
Rabson-Mendenhall Syndrome |
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Cardiomyopathy, Intrauterine growth retardation, Polydactyly |
ORPHA:769 |
Stromme Syndrome |
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Optic nerve hypoplasia, Microphthalmia, Preaxial polydactyly |
OMIM:243605 |
Kinsship Syndrome |
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Polydactyly, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Mesomelia, Coxa valga, ... |
OMIM:619297 |
Specc1L-Related Hypertelorism Syndrome |
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Omphalocele, Umbilical hernia, Brachycephaly, Finger syndactyly, Short toe, Clinodactyly of the 5... |
ORPHA:1519 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Intrauterine growth retardation, Polydactyly, Adducted thumb, Cardiac conduction abnormality, Ava... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Intrauterine growth retardation, Polydactyly, Adducted thumb, Cardiac conduction abnormality, Ava... |
ORPHA:353284 |
Vater/Vacterl Association |
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Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Large fontanelles, Hypoplas... |
OMIM:192350 |
Loeys-Dietz Syndrome 2 |
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Talipes equinovarus, Postaxial polydactyly, Umbilical hernia, Craniosynostosis, Joint contracture... |
OMIM:610168 |
3Mc Syndrome 3 |
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Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly |
ORPHA:163681 |
Opitz Gbbb Syndrome, Type Ii |
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Cranial asymmetry, Umbilical hernia, Craniosynostosis, Pulmonary arterial hypertension, Frontal b... |
OMIM:145410 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypertrophic cardiomyopathy, Short femur, Polydactyly, Short humerus |
ORPHA:17 |
Ring Chromosome 7 Syndrome |
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Plagiocephaly, Severe intrauterine growth retardation, Heart murmur, Brachycephaly, Small hand, S... |
ORPHA:1449 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hallux valgus, Curved fingers, Postaxial polydactyly, Tapered finger, Brachycephaly, Small hand, ... |
ORPHA:480880 |
Roberts-Sc Phocomelia Syndrome |
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Severe intrauterine growth retardation, Hand oligodactyly, Microphthalmia, Phocomelia, Brachyceph... |
OMIM:268300 |
Lacrimoauriculodentodigital Syndrome |
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Radial deviation of the 3rd finger, Xerostomia, Absent proximal phalanx of thumb, Hypoplasia of t... |
OMIM:149730 |
Joubert Syndrome 39 |
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Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Wiedemann-Rautenstrauch Syndrome |
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Severe intrauterine growth retardation, 2-3 toe syndactyly, Thickened calvaria, Intrauterine grow... |
ORPHA:3455 |
Faciocardiomelic Syndrome |
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Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Polydactyly, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormal digit morphology, Hypotension |
ORPHA:95494 |
Orofaciodigital Syndrome Xiv |
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Trigonocephaly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:615948 |