| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Upper limb phocomeli... |
ORPHA:294975 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic iliac wing, Genu varum, Genu valgum, Flexion contracture, Metaphyseal irregularity, C... |
OMIM:613330 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Ventriculomegaly, Ventricular septal defect... |
OMIM:615630 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Death in infancy, Micrognathia, Hydrocephalus, Hip dislocation, Media... |
OMIM:241800 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Ventriculomegaly, Micrognathia, Short femur, Hypertroph... |
OMIM:616897 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... |
OMIM:607778 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect, Narrow chest, Micrognathia, Short philtrum, Downturned cor... |
ORPHA:93267 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Brachydactyly, Single... |
OMIM:617927 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... |
OMIM:228520 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Thoracic dysplasia, Median cleft lip, Holoprosencephaly, Limb undergrowth, Short... |
OMIM:269860 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Death in infancy, Narrow chest, Postaxial foot polydactyly, Lateral ... |
OMIM:617405 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Increas... |
ORPHA:90652 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Thoraci... |
ORPHA:1505 |
| Triploidy |
|
Meningocele, Non-midline cleft lip, Finger syndactyly, Wide mouth, Abnormal cardiac septum morpho... |
ORPHA:3376 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater s... |
OMIM:616300 |
| Emanuel Syndrome |
|
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Ventriculomegaly, Micrognat... |
ORPHA:96170 |
| Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Micrognathia, Cleft palate, Ventricular septal defect, Hydr... |
OMIM:609029 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Hydranencephaly, Short ... |
OMIM:601355 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Ventriculomegaly, Short ribs, Radial bowing, Polycystic ... |
OMIM:617866 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Micrognathia, Clubbing of fingers, Limb undergrowth, Cleft palate, Talipes e... |
ORPHA:1865 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Bell-shaped thorax, Hernia, Abnormality of the elbow, Rhizomelia, Short... |
ORPHA:1842 |
| Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... |
OMIM:201000 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Truncus arteriosus, Ventricular septal defect, Joint laxity, Atrial septal defect,... |
ORPHA:401935 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate, Omphalo... |
ORPHA:945 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter... |
OMIM:269250 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Coloboma, Ventricular septal defect, Micrognathia, Pulmonic stenos... |
OMIM:220210 |
| Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megau... |
ORPHA:261344 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Short di... |
ORPHA:2516 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Ventriculomegaly, Ventricular septal defect, Microgna... |
ORPHA:1388 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Coloboma, Ventriculomegaly, ... |
ORPHA:508498 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... |
ORPHA:168549 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Long philtrum, Hypoplastic ilia, Short ribs, Hypoplasia of ... |
OMIM:617895 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Micrognathia, Iris coloboma, Cleft... |
ORPHA:7 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short ribs, ... |
OMIM:224400 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Anterior encephalocele, Foot oligodactyly, Bilateral cleft lip, Coloboma, Ventri... |
OMIM:601357 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I... |
ORPHA:2839 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... |
OMIM:614091 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Generalized osteos... |
OMIM:215045 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Death in infancy, Stage 5 chronic kidney disease, Hypoplasia of the radius, Anal at... |
OMIM:613390 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, High palate, Crossed fused renal ectopia, Ventricular septal defect, Hy... |
OMIM:618142 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Mesomelic/rhizome... |
ORPHA:2347 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:1263 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Abnormal cardiac septum morphology, ... |
ORPHA:2484 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo... |
OMIM:225500 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Inguinal hernia, Sti... |
OMIM:600972 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Short long bone, Hyd... |
OMIM:187600 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Genu valgum, Short ribs, Abnormal pelvic girdle bone morphology, Elbow disloc... |
ORPHA:1803 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ... |
OMIM:264480 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Coloboma, Preaxial polydactyly |
ORPHA:141333 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, Lateral ventricle dilatation, 2-3 finger syndactyl... |
ORPHA:1692 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Hydrocephalus, Cleft palate, Omphalocele |
OMIM:258320 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Atrial septal defect, Congenital diaph... |
OMIM:616546 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pectus excavatum, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, D... |
OMIM:618316 |
| Otopalatodigital Syndrome, Type I |
|
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb... |
OMIM:618961 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... |
OMIM:136760 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Po... |
OMIM:304120 |
| Weaver Syndrome |
|
Coxa valga, Ventriculomegaly, Lateral ventricle dilatation, Camptodactyly, Metatarsus adductus, O... |
OMIM:277590 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Wide-cupped costochondral junctions, Flar... |
OMIM:187601 |
| Three M Syndrome 1 |
|
Short thorax, Short 5th finger, Long philtrum, Short ribs, Thick lower lip vermilion, Slender lon... |
OMIM:273750 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... |
OMIM:109400 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Pierre-Robin sequence, Hypoplastic ilia, Short ribs, Delayed vertebra... |
ORPHA:93296 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... |
OMIM:224300 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Joint stiffness,... |
ORPHA:1707 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Postaxi... |
OMIM:603194 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Talipes equinovarus, Beaded ribs, H... |
OMIM:200600 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, Cleft palate, Talipes ... |
OMIM:613091 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Hallux valgus, Truncus arteriosus, Toe syndactyly, Cleft palate, Ventric... |
ORPHA:2008 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Fibular aplasia, Pectus exc... |
OMIM:300373 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Abnormal sternum morphology, Encephalocel... |
ORPHA:1335 |
| Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Recurrent fractures, Ventriculomegaly, Short ribs, Short long bone, Enl... |
OMIM:618188 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, High palate, Micrognathia, Camptodactyly, Neonatal death, Arthr... |
OMIM:618393 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Lateral ventricle dilatation, Thoracic dysplasia, Median cleft lip, Lateral clav... |
OMIM:263520 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Renal cortical cysts, Thoracic hypoplasia, Ventriculomegaly... |
ORPHA:397715 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... |
ORPHA:261330 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Abnormally ossified vertebrae, Radial bowing, Micrognathia, Lower limb under... |
ORPHA:3035 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Abnormal metaphysis morpholo... |
ORPHA:2021 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip... |
OMIM:308050 |
| Hypophosphatasia, Infantile |
|
Increased susceptibility to fractures, Phosphoethanolaminuria, Elevated urine pyrophosphate, Meta... |
OMIM:241500 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Micrognathi... |
ORPHA:96334 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Coloboma, Toe syndactyly, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Pectus excavatum, Preaxial polydactyly... |
OMIM:605967 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, High palate, Narrow palate, Long philtrum, Short long bone, Ventricular septal defect... |
OMIM:617022 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M... |
ORPHA:66637 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Micrognathia, Lateral clavicle hook, Cleft palate, Narrow greater s... |
OMIM:617925 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Limb undergrowth, Metaphyseal irregularity, Short... |
OMIM:151210 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac... |
OMIM:175700 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Ventriculomegaly, Micrognathia, Median cleft lip, Holoprosencephaly, F... |
OMIM:612651 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial sep... |
ORPHA:921 |
| Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Clinodactyly, Inguinal hernia, Radial deviation of finger, Osteopor... |
OMIM:309610 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Vascular dilatation, Deep philtru... |
OMIM:613320 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Ventriculomegaly, Microdontia, Micrognathia, Bifid ... |
OMIM:266920 |
| 15Q24 Microdeletion Syndrome |
|
Coloboma, Smooth philtrum, Intestinal atresia, Narrow mouth, Proximal placement of thumb, Myelome... |
ORPHA:94065 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Hypoplastic iliac wing, Long philtrum, Short tubular bones of the hand, Short ri... |
OMIM:200610 |
| Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Holoprosencephaly, Iris colob... |
ORPHA:3380 |
| C Syndrome |
|
Renal cortical cysts, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radi... |
OMIM:211750 |
| Achondroplasia |
|
Genu varum, Thoracic hypoplasia, Generalized joint laxity, Short femoral neck, Short ribs, Death ... |
OMIM:100800 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, High palate, Short ribs, Elbow flexion contracture, Cu... |
ORPHA:1145 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... |
OMIM:600920 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... |
ORPHA:1120 |
| Vacterl/Vater Association |
|
Non-midline cleft lip, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly... |
ORPHA:887 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, High palate, Pierre-Robin sequence, Long philtrum, Short 5th metacar... |
OMIM:617877 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Wide anterior fontanel, Short long bone, Micrognathia, Polycystic kidney dys... |
OMIM:263210 |
| Poland Syndrome |
|
Spina bifida occulta, Abnormal rib morphology, Absent hand, Reduced bone mineral density, Absence... |
ORPHA:2911 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... |
OMIM:154400 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... |
OMIM:607323 |
| Fryns Syndrome |
|
Non-midline cleft lip, Ventriculomegaly, Ectopic anus, Abnormal cardiac septum morphology, Microg... |
ORPHA:2059 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Chromosome 9P Deletion Syndrome |
|
Tapered finger, Micrognathia, Clinodactyly of the 5th toe, Thin vermilion border, Narrow palate, ... |
OMIM:158170 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Ventriculomegaly, Ventricular septal defect, Pectus excavatum, Anteriorly place... |
OMIM:618624 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Camptodactyly, Pectus excava... |
ORPHA:254528 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Tapered finger, Hallux valgus, Coloboma, Ventriculomegaly, Micrognathia, Pect... |
OMIM:618659 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Bell-shaped thorax, Flexion contracture, Diastasis recti, Long philtrum... |
OMIM:608149 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Absent distal pha... |
OMIM:120400 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Microdontia, Micrognathia, Camptodactyly, Elbow dislocation, Abs... |
OMIM:224690 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Delayed eruption of teeth, Toe synda... |
OMIM:305600 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Microdontia, Elbow flexion contracture, Mi... |
OMIM:245600 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Genu valgum, Metaphyseal irregularity, Short ribs, Broad phalanx,... |
OMIM:250420 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Syndactyly, B... |
OMIM:616589 |
| Femoral-Facial Syndrome |
|
Ventriculomegaly, Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, T... |
ORPHA:1988 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Horseshoe kidney... |
OMIM:613630 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
| Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Micrognathia, Pectus excavatum, 2-3 toe cutaneous syndactyly, Radial deviation of... |
OMIM:609625 |
| 8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... |
ORPHA:508488 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Patent ductus arteriosus, Rhizomelia, Short ribs, Hypoplasia o... |
OMIM:607143 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Double outlet right ventricle, Abnormal hand morphology, V... |
ORPHA:371428 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Coloboma, Abnormal cardiac septum morphology, Toe sy... |
OMIM:200990 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... |
ORPHA:1937 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Elbow dislocation, Phalangeal dislocation, Omphalocele, Talipes equinovarus |
ORPHA:85174 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Cleft soft palate, Long philtrum, Micrognathia, Bicuspid aortic valve, Prominent ... |
OMIM:618529 |
| 3Mc Syndrome 1 |
|
Short 5th finger, Abnormality of the abdominal wall, Spina bifida occulta, Cleft palate, Lambdoid... |
OMIM:257920 |
| Cranioectodermal Dysplasia 1 |
|
Stage 1 chronic kidney disease, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radia... |
OMIM:218330 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Intrauterine growth ... |
OMIM:611867 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Ventriculomegaly, Hydrocephalus, Missing ribs, Hand polydactyly, C... |
ORPHA:1647 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Ventriculomegaly, Microdontia, Pectus excavatum, Slender fing... |
OMIM:602535 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Triceps aplasia, Pectus excavatum, Glomerulonephritis, Absent distal interphalang... |
OMIM:161200 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Coloboma, Wide mouth, Ventricular septal defect, ... |
ORPHA:329224 |
| Acropectoral Syndrome |
|
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Ventriculomegaly, Abnormal cardiac septum morphology, Micrognathia, Abno... |
OMIM:249000 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hernia, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Joint laxity, Sy... |
OMIM:602501 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Missing ribs, Congenital diaphragmatic hernia... |
ORPHA:1488 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventriculomegaly, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth philtrum, Cleft palate, Opti... |
OMIM:618454 |
| Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Hydrocephalus, Missing ribs, Anal atresia, Abnormal pelvic girdle bone morphology, ... |
ORPHA:1834 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
| Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Truncus arteriosus, Ventricular septa... |
OMIM:617516 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... |
OMIM:306955 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pseudoarthrosis, Short ribs, Pectus excavatum |
OMIM:618155 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... |
ORPHA:2538 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micr... |
OMIM:156400 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short ribs, Short long bone, Thoracic dysplasia, Femoral bowing, Synda... |
OMIM:615503 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Lateral ventricle dilatation, Micrognathia, Elbow flexion contracture, Hip d... |
OMIM:210710 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals, In... |
OMIM:618724 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmat... |
ORPHA:2143 |
| Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... |
OMIM:615948 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Ventriculomegaly, Delayed eruption of tee... |
OMIM:600373 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
| Fryns Syndrome |
|
Thoracic hypoplasia, Camptodactyly, Cleft palate, Aplasia of the left hemidiaphragm, Rocker botto... |
OMIM:229850 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Hydrocephalus, Distal ... |
OMIM:300863 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Pectus excavatum, Elbow dislocation, Abn... |
ORPHA:2462 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Pectus excavatum, Cer... |
OMIM:312870 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Coloboma, Ventriculomegaly, Toe syndactyly, Micrognathia... |
ORPHA:251014 |
| Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Absent thumb, Patent foramen ovale, Ventricular septal defect, Short 1st m... |
OMIM:609053 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Abnormal rib morphology, Cleft palate,... |
ORPHA:373 |
| Miller-Dieker Syndrome |
|
Nephropathy, Omphalocele, Clinodactyly of the 5th finger, Abnormal upper lip morphology |
ORPHA:531 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Truncus arteriosus, Abnormal thorax morphology, Micrognathia, Retinal arteriolar tor... |
ORPHA:567 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Mesomelic leg shortening, Long philtrum, Cl... |
ORPHA:2756 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Cleft palate, Gingival overgr... |
OMIM:616894 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Bell-shaped thorax, Coxa vara, Short fe... |
OMIM:602557 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Short tibia, Cleft upper lip, Polydactyly, Encephalocele, Pate... |
OMIM:603671 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopat... |
ORPHA:2515 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Talipes equinovarus, Camptodactyly,... |
OMIM:614815 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Early ossification of capital femor... |
OMIM:208500 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Ventriculomegaly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of ... |
OMIM:617926 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Congenital diaphragmatic ... |
OMIM:601163 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof, Intrauterine growth retardation |
OMIM:613676 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Rhizomelia... |
ORPHA:3098 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Coloboma, Ventricular septal defect, Hydrocephalus, Short philtrum, D... |
OMIM:614424 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Anal atresia, Prune belly, Cervical ribs, Sprengel anomaly, Renal hypo... |
OMIM:601389 |
| Campomelic Dysplasia |
|
Irregular dentition, Short phalanx of finger, Spinal dysraphism, Thoracic hypoplasia, Hallux valg... |
OMIM:114290 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Joint laxity, Pectus excavatum, Metacarpophalangeal joint hyperextensibili... |
OMIM:300624 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Abnormal sternum morphology, Ventricular septal defect, Short ribs, Atr... |
ORPHA:2519 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Micrognathia, Pectus excavatum, Dislocated radial head, Radial deviation of finger,... |
OMIM:268310 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Microdontia, Micrognathia, Pectus excavatum, Everted lower lip verm... |
OMIM:613610 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, Hypoplasia of pen... |
ORPHA:2166 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Knee flexion contracture, Preaxial hand polydactyly, Long philtrum, Thin upper lip vermilion, Int... |
OMIM:606242 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Micrognathia, Missing ri... |
OMIM:251230 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Meningocele, Missing ribs, Duodenal stenosis, Intestinal malrotation, De... |
ORPHA:1759 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Micrognathia, Postaxial ... |
OMIM:614120 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular chondrocostal junctions, S... |
OMIM:187760 |
| Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Short metacarpal,... |
ORPHA:50945 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Wide anterior fontanel, Ventricular septal defe... |
OMIM:222448 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia... |
ORPHA:63862 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Hypospadias, Radioulnar synostosis, Coloboma |
OMIM:302905 |
| Holoprosencephaly |
|
Spinal dysraphism, Median cleft lip, Holoprosencephaly, Iris coloboma, Tooth agenesis, Cyclopia, ... |
ORPHA:2162 |
| Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Short ribs, Pectus excavatum |
OMIM:187750 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Coloboma, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal metaphysis morphology, Narrow... |
ORPHA:2635 |
| Opitz Gbbb Syndrome |
|
Ventriculomegaly, Ectopic anus, Micrognathia, Cleft palate, Aortic root aneurysm, Vesicoureteral ... |
ORPHA:2745 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har... |
ORPHA:3426 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... |
ORPHA:2754 |
| Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Joint contracture of the hand, Delayed eruption of teeth,... |
OMIM:247200 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, D... |
OMIM:614175 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, T... |
ORPHA:261120 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Sagittal craniosynostosis, Long philtrum, Natal tooth, Small hand, Coronal ... |
OMIM:145420 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Unilateral vertebral artery... |
OMIM:613686 |
| Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Proximal placement o... |
OMIM:617883 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Omphalocele, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... |
ORPHA:3186 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Short thumb, Triangular shaped phalanges of the ... |
OMIM:618167 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Ventriculomegaly, Toe syndactyly, Hip dislocation, Iris co... |
ORPHA:2308 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septal defect, Abnorm... |
ORPHA:254534 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventriculomegaly, Micrognathia, Posterior rib fusion, Pulmonary ar... |
OMIM:265380 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Coloboma, Microdontia, Micrognathia, Broad hallux, Slender f... |
ORPHA:251028 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Long philtrum, Coloboma, Abnormal cardiac septum morphology, ... |
OMIM:615583 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma |
OMIM:210350 |
| Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... |
OMIM:227646 |
| Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Micrognathia, Hydrocephalus, Intestinal malrotation, Iris coloboma, ... |
OMIM:243605 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Enamel hypoplasia, Tracheobronchomalacia, Patent foramen ovale, Pierre-Robin se... |
OMIM:619184 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 5th toe, Short 5th finger, Short 3rd toe, Short 4th toe, Short 2nd toe, Chromosomal breakag... |
OMIM:619060 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defect, Deep philtrum, Wi... |
OMIM:619717 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Orofacial cleft |
ORPHA:324416 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Short tibia, Triphalangeal thumb, High palate, Absent forearm, Wide anterior fo... |
OMIM:201170 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Bell-shaped thorax, Thoracic hypoplasia, Delaye... |
OMIM:608022 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short mid... |
ORPHA:391646 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
| Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Pectus excavatum,... |
OMIM:252100 |
| Iniencephaly |
|
Spinal dysraphism, Mandibular aplasia, Holoprosencephaly, Arthrogryposis multiplex congenita, Tal... |
ORPHA:63259 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventriculomegaly, Joint contracture of t... |
OMIM:179613 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Abnormal cardiac septum morphology, Abnormal distal phalanx morphology of fing... |
ORPHA:175 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ventriculomegaly, Thickened cortex of long bones, Postaxial hand polydactyly, Sclerosis of skull ... |
OMIM:269150 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pulmonary artery atresia... |
OMIM:601186 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Micrognathia... |
OMIM:614083 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Ventricular septal def... |
OMIM:618950 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic ki... |
OMIM:613885 |
| Holt-Oram Syndrome |
|
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... |
ORPHA:392 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Abnormal cardiac septum morphology, Micrognathia, Short philtrum, Cli... |
OMIM:301022 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Gastroschisis, Hand polydactyly, Ectopia cordis, Abnormal rib cag... |
OMIM:217100 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam... |
OMIM:612474 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, 11 pairs of ribs, Hip contracture, Long philtrum, Micrognathia, Elbow f... |
OMIM:616266 |
| Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Hip contracture, Splayed epiphyses, Coxa vara, Rhizomelia,... |
OMIM:156550 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
| Alg9-Cdg |
|
Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract morphology, Bifid uvu... |
ORPHA:79328 |
| Hydrolethalus Syndrome 1 |
|
Severe hydrocephalus, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defec... |
OMIM:236680 |
| Fetal Valproate Spectrum Disorder |
|
Long philtrum, Downturned corners of mouth, Narrow mouth, Thin vermilion border, Omphalocele |
ORPHA:1906 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Atrioventricular canal defect, Patent ductus arteriosus, Postaxial polydactyly, ... |
OMIM:617088 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hypertrophic cardiom... |
OMIM:615415 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes... |
ORPHA:97360 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
| Meier-Gorlin Syndrome 3 |
|
Genu varum, Short thorax, Patellar hypoplasia, Coxa vara, Patellar aplasia, Short ribs, Slender l... |
OMIM:613803 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Gastro... |
ORPHA:2476 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... |
ORPHA:1908 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, V... |
OMIM:620073 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten... |
OMIM:600001 |
| Trigonocephaly 1 |
|
Long philtrum, High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Craniosynostosis |
OMIM:190440 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Craniosynostosis, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, So... |
OMIM:252600 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint contracture of the hand, Shor... |
OMIM:113000 |
| Seckel Syndrome 1 |
|
Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra... |
OMIM:210600 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Hydrocephalus, Dandy-Walker mal... |
OMIM:612938 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupted aortic arch, Atrial ... |
OMIM:617478 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Pectus excavatum, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextro... |
OMIM:614976 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Keloids, Increased b... |
ORPHA:166119 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Death in infancy, Bifid humerus, Micrognathia, Flat acetabular roof, Talipes... |
OMIM:256050 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Limb undergrowth, Cleft... |
OMIM:263650 |
| Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Micrognathia, Narrow chest, Cleft palate, Arthrogryposis ... |
OMIM:615731 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:1797 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Dentinog... |
OMIM:184260 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Missing ribs, Anal atresia, Tetraameli... |
ORPHA:3301 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Ventricular sept... |
OMIM:169400 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Bifid tongue, Ventriculomegaly, Ectopic anus, Micr... |
ORPHA:93271 |
| Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... |
OMIM:117650 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Clinodactyly, Syndactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
| Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Hypospadias, Abnormal palat... |
ORPHA:1738 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Ventriculomegaly, Short long bone, ... |
ORPHA:140 |
| Vater/Vacterl Association |
|
Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Ventricular septal defect, Esopha... |
OMIM:192350 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Missing r... |
ORPHA:2759 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Abnormality of chromosome stability, Ventriculomegaly, Es... |
OMIM:300514 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Perianal abscess, Long philtrum, Wide mouth, Small hand, Pericardial eff... |
OMIM:614684 |
| Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... |
OMIM:609945 |
| Jacobsen Syndrome |
|
Flexion contracture, Ventricular septal defect, Micrognathia, Pyloric stenosis, Hydrocephalus, Mi... |
OMIM:147791 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Large hands, Orofacial cleft |
ORPHA:85287 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Abnormal vertebral segmentat... |
ORPHA:2345 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Posta... |
ORPHA:83473 |
| Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Coloboma, Wide mouth, Clinodactyly, Macroglossia, Everted lower lip vermili... |
OMIM:616789 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Death in infancy, Hydrocephalus, Dandy-Walker mal... |
OMIM:147800 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Hydrocephalus, Ectopia co... |
OMIM:313850 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Narrow c... |
ORPHA:3144 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Ventriculomegaly, Hydrocephalus, Left ventricular hypertrophy, Death in childhood, Dand... |
OMIM:613153 |
| Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Long philtrum, Finger syndactyly, Ventricular septal defect,... |
ORPHA:1519 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Ventriculomegaly, Everted lower lip vermilion, Cleft palate, Gingival overgrowt... |
OMIM:220500 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Enamel hypoplasia, High palate, Selective tooth agenesis, Hypodontia, Oligodont... |
OMIM:613823 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1166 |
| 3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,... |
ORPHA:435638 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Flexion contracture, Complete duplication of thumb phalanx, Ventricular septal defe... |
OMIM:227645 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate, Coloboma, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the... |
OMIM:606851 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the ureter, Iris coloboma, Postaxial hand polydactyly, Abnormal ... |
ORPHA:3378 |
| Fanconi Anemia |
|
Ventriculomegaly, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syn... |
ORPHA:84 |
| Kabuki Syndrome |
|
Lip pit, Short 5th finger, Coloboma, Ventriculomegaly, Abnormal cardiac septum morphology, Microd... |
ORPHA:2322 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Generalized joint laxity, Avascular nec... |
OMIM:132400 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Short ribs, Coronal craniosynostosis, Anal atresia, Hypospadias, Short... |
OMIM:603116 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Ventriculomegaly, Finger joint hypermobility, Micrognathia, Pectus excav... |
OMIM:212720 |
| Charge Syndrome |
|
Coloboma, Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Iris coloboma, Abnormal... |
OMIM:214800 |
| Apert Syndrome |
|
Ventriculomegaly, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus, Bifid uvula, ... |
OMIM:101200 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Ventriculomegaly, Finger joint hypermobility, Pectus excavatum, Limited elbow... |
OMIM:618870 |
| Caudal Regression Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Arrhinencephaly, Missing ribs, Anal atresia, Abnormal... |
ORPHA:3027 |
| Tarp Syndrome |
|
Short sternum, High palate, Tongue nodules, Hypoplasia of the radius, Micrognathia, Clinodactyly,... |
OMIM:311900 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Ventriculomegaly, Hip dysplasia, Hydrocephalus, Unilateral renal agenesis, Deviation of the 5th f... |
OMIM:616362 |
| Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, Short thumb, Chromosomal breakage induced by crosslinking agents, Intrauterine grow... |
OMIM:605724 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Pectus excavat... |
ORPHA:1507 |
| Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Deep palmar crease, Coloboma |
OMIM:600251 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Bifi... |
OMIM:612350 |
| Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Intestinal obstruction, Genu valgum, Ab... |
ORPHA:321 |
| Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Intestinal duplication, Omphalocele, Ureteral duplication, Abnorm... |
ORPHA:1756 |
| Tetrasomy 9P |
|
Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Pericarditis, Oligospermia, Cleft ... |
ORPHA:3310 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pectus excavatum, Rocker bottom foot, Patent foramen ovale, Ventricular septal defect, Hip dyspla... |
OMIM:612582 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Preaxial hand polydactyly, Radial club hand, Short metacarpal, Micrognathia, Abnormal palate morp... |
ORPHA:1278 |
| Truncus Arteriosus |
|
Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery steno... |
ORPHA:3384 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Ventriculomegaly, Ventricular septal defect, Hypoplasia of penis, Hypoplasti... |
ORPHA:2772 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Bell-shaped thorax, Aplasia/Hypoplasia of the abdominal wall musculature... |
ORPHA:1425 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Natal tooth, Short ribs, Short foot, Small hand, Micrognathia, Clinodactyly ... |
ORPHA:2108 |
| Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Long philtrum, Microretrognathia, Thin upper lip vermilion, Limb undergrowth... |
OMIM:619124 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Hip dislocation, Elbow dislocation, Clef... |
ORPHA:99776 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation |
OMIM:609054 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Hand polydactyly, Atrial septal d... |
ORPHA:261243 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypop... |
OMIM:615665 |
| Mmep Syndrome |
|
Triphalangeal thumb, Ventricular septal defect, Median cleft lip, Split foot, Orofacial cleft |
ORPHA:3434 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Long philtrum, Deep philtrum, Short foot, Thick lower lip vermilion, Sho... |
OMIM:102370 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Coloboma, Bifid uvula, Furrowed ... |
ORPHA:453499 |
| Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Talipes equinovarus, Hypoplas... |
ORPHA:93929 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Pectus excavatum, Epiphyseal dysplasia, I... |
OMIM:607131 |
| Acro-Renal-Ocular Syndrome |
|
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Iris coloboma, Optic d... |
ORPHA:959 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Flexion contracture, Coloboma, Micrognathia, Flared iliac wing, Pectus excavatum, Sp... |
OMIM:180849 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short thorax, Short metacarpal, Widely spaced teeth, Angel-shaped phalan... |
OMIM:617102 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Ever... |
OMIM:249670 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Pulmon... |
ORPHA:2876 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
| Radial-Renal Syndrome |
|
Absent thumb, Unilateral renal agenesis, Ectopic kidney, Absent radius, Chromosome breakage |
OMIM:179280 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Complete duplication of thumb phalanx, Ectopic kidney, Prolonged G2 phase of cell c... |
OMIM:600901 |
| Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... |
ORPHA:2369 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pectus excavatu... |
ORPHA:52047 |
| Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Diastasis recti, Coxa valga, Thoracic hypoplasia, M... |
ORPHA:254519 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Patellar hypoplasia, Long philtrum, Coloboma, Short fourth metatarsal, Bra... |
ORPHA:464288 |
| Gillespie Syndrome |
|
Truncus arteriosus, Ventriculomegaly, Aniridia |
OMIM:206700 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... |
ORPHA:93307 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Hypoplasia of the odontoid process, Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Polydactyly, Renal insufficiency, Renal cyst |
OMIM:615993 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Diastasis recti, Long philtrum, Ventriculomegaly, Neurogeni... |
ORPHA:488632 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:63260 |
| Ollier Disease |
|
Multiple enchondromatosis, Osteolysis, Micromelia, Abnormal metaphysis morphology, Joint stiffnes... |
ORPHA:296 |
| Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Ventricu... |
OMIM:617201 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Complete duplication of thumb phalanx, Ectopic kidney, Prolonged G2 phase of cell c... |
OMIM:227650 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, High palate, Ventricular septal defect, Broad alveolar ridges, Clinoda... |
OMIM:314320 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Short philtrum, Camptodactyly,... |
OMIM:300963 |
| Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, High palate, Preaxial hand polydactyly, Uppe... |
ORPHA:1297 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Diastasis recti, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, ... |
ORPHA:231140 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Median... |
ORPHA:2710 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Ventriculomegaly, Deep philtrum, Widely spaced teeth, Ventricular s... |
OMIM:612530 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Clinodactyly of the 5th fi... |
OMIM:618974 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Hydroc... |
ORPHA:77298 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Ventriculomegaly, Ventricular ... |
OMIM:614576 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Iris coloboma,... |
ORPHA:2712 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Postaxial h... |
OMIM:607361 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip dislocation, Abnormality of the uret... |
OMIM:200980 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Short 5th finger, Ventricu... |
ORPHA:500159 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Renal cyst, Syndactyly, Brachydactyly, Abnormality of the dentition |
OMIM:615982 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Enamel hypoplasia, Enlargement of the costochondral junction, Bulging of the co... |
OMIM:264700 |
| Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Vesicoureteral reflux, Absent thumb, Microphallus, 2-3 finger syndactyl... |
OMIM:603467 |
| Holoprosencephaly 7 |
|
Bilateral cleft lip, Occipital meningocele, Absent nasal septal cartilage, Hydrocephalus, Semilob... |
OMIM:610828 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Diastasis recti, Clinodactyly, Radioulnar synostosis, Penoscrotal hypospadias, P... |
OMIM:248340 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Mic... |
ORPHA:1826 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplastic pubic bone, H... |
OMIM:184250 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Patent ductus arteriosus, Rhizomelia, Narrow chest, Unilateral renal agenesis, ... |
OMIM:617661 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochon... |
OMIM:241530 |
| Fanconi Anemia, Complementation Group T |
|
Short thumb, Duplication of thumb phalanx, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Coloboma, Ventricular septal defect, Atrial septa... |
OMIM:618652 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| C Syndrome |
|
Abnormality of the anus, Toe syndactyly, Micrognathia, Pectus excavatum, Dislocated radial head, ... |
ORPHA:1308 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Bifid uvula, Median clef... |
OMIM:184705 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
| Baraitser-Winter Syndrome 2 |
|
Coloboma, Long philtrum, Wide mouth, Ventriculomegaly, Thin upper lip vermilion, Orofacial cleft |
OMIM:614583 |
| Fanconi Anemia, Complementation Group Q |
|
Absent thumb, Esophageal atresia, Anteriorly placed anus, Primum atrial septal defect, Chromosome... |
OMIM:615272 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventriculomegaly, Ventricular septal defect, Vascular ring, Hydrocephal... |
OMIM:603387 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5th toe, Cl... |
ORPHA:221120 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short thorax, Short ribs, Short long bone, Poorly ossified vert... |
ORPHA:3003 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Microphallus, Micrognathia, Clinodactyly of the 5th finger, Inguin... |
ORPHA:397590 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Coloboma, Joint contracture of the hand, Left superior vena cava draining ... |
OMIM:611961 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Increased adipose tissue, Coloboma, Ventriculomegaly, Abnorma... |
ORPHA:199276 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Short thorax, Long philtrum, Finger syndactyly, Rib segment... |
ORPHA:2311 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Folate-dependent fragile site at Xq28, J... |
ORPHA:908 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:600081 |
| Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Cleft upper lip, Small hand, Ventriculomegaly, Block vertebrae, Mal... |
ORPHA:50 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... |
OMIM:601927 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flexion contracture, Tapered finger, High palate, Long philtrum, Ventriculomegaly, Ventricular se... |
OMIM:617452 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
| Galloway-Mowat Syndrome 7 |
|
Arachnodactyly, High palate, Hallux valgus, Ventricular septal defect, Nephrotic syndrome, Stage ... |
OMIM:618348 |
| Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Ventriculomegaly, Toe syndactyly, Bifid uvula, Overlapping toe,... |
OMIM:601808 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hyp... |
ORPHA:94066 |
| Curry-Jones Syndrome |
|
Lip pit, Preaxial hand polydactyly, Ventriculomegaly, 2-3 finger syndactyly, Preaxial foot polyda... |
OMIM:601707 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft pala... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft pala... |
ORPHA:352665 |
| Aicardi Syndrome |
|
Bifid ribs, Cleft upper lip, Dilated third ventricle, Lateral ventricle dilatation, Block vertebr... |
OMIM:304050 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Ventriculomegaly, Toe syndactyly, Foot polydactyly,... |
ORPHA:1553 |
| Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Ventricular septal defect, Micrognathia, Bifid uvula, Short ... |
OMIM:608572 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Abnormal cartilage collagen, Delay... |
ORPHA:485 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Broad secondary alveolar ridge, Ventricular septal defect, Inguinal hernia, Multiple... |
ORPHA:3369 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Enterocolitis, Jejunal atresia, Death in childhood, Death in infancy, Ventricu... |
OMIM:243150 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
| Ulbright-Hodes Syndrome |
|
Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forearm bone morphology, Abnormal rib... |
ORPHA:3404 |
| Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,... |
OMIM:610168 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Enamel hypoplasia, Metaphyseal irregularity, Bulging of the costochondral junct... |
OMIM:277440 |
| Filippi Syndrome |
|
Ventricular septal defect, Hypodontia, Microdontia, Abnormality of dental morphology, Short philt... |
OMIM:272440 |
| Esophageal Atresia |
|
Coloboma, Ventricular septal defect, Pyloric stenosis, Clinodactyly, Laryngotracheomalacia, Coarc... |
ORPHA:1199 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Long philtrum, Hyperextensibility of the finger joints, Tapered finger, Toe syndacty... |
ORPHA:505237 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... |
OMIM:258860 |
| Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus add... |
OMIM:121050 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Ventriculomegaly, De... |
ORPHA:77301 |
| Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Pectus excavatum, Short femur, Hyperphalangy of the 2nd... |
OMIM:616145 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Short phalanx of finger... |
OMIM:114300 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, High palate, Long philtrum, Tapered finger, Micrognathia, Anal atr... |
OMIM:613792 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Encephalocele, Coloboma, Wide mouth, Vascular dilatation, S... |
OMIM:216360 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Long philtrum, Ventricular septal defect, Hip dysplasia, Prominent fingerti... |
OMIM:618494 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Long philtrum, Short metacarpal, Ventricular septal defect, Short dig... |
OMIM:616651 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Coloboma, Ventriculomegaly, Hydrocephalus, Macroglossia, Occipital ence... |
ORPHA:370959 |
| Char Syndrome |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... |
ORPHA:46627 |
| Oeis Complex |
|
Duplicated colon, Hydronephrosis, 11 pairs of ribs, Myelomeningocele, Vesicovaginal fistula, Abse... |
OMIM:258040 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of the thumb, Diastasis recti, Long philtrum, Cutaneous finger syndactyly, H... |
OMIM:618419 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Pectus excavatum, Metatarsus adductus, Dis... |
OMIM:182212 |
| Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Hand clenching, Flexion contracture, Long philtrum, Death in infancy, Micrognat... |
OMIM:618947 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Micromelia, ... |
OMIM:180870 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Delayed eruption of perman... |
OMIM:618506 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... |
ORPHA:1540 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Long philtrum, Deep philtrum, Ventricular septal defect, Micrognathia, Bifid ... |
ORPHA:404440 |
| Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, ... |
OMIM:617247 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Osteolysis, Iris coloboma, Cleft palate, Short toe, Hypoplastic 5th lumbar vertebra... |
ORPHA:955 |
| Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Death in in... |
ORPHA:991 |
| Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Microdontia, Micrognathia, Everted lower lip vermilion, Ab... |
ORPHA:261318 |
| 16P13.11 Microdeletion Syndrome |
|
