Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Atypical scarring of ... |
ORPHA:294975 |
Atelosteogenesis, Type Iii |
|
Frontal bossing, Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombston... |
OMIM:108721 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,... |
OMIM:311895 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Fl... |
ORPHA:93307 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr... |
ORPHA:1388 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia... |
ORPHA:1597 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal muscle hypertr... |
ORPHA:314795 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Ti... |
ORPHA:1427 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Edema, Accelerated skeletal maturation, Generalized ost... |
ORPHA:1423 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Perianal abscess, Pericardial effusion, Small hand, Wide mouth, Broad f... |
OMIM:614684 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... |
OMIM:256050 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility, Hig... |
ORPHA:1035 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Diastrophic Dysplasia |
|
Joint dislocation, Bowing of the long bones, Increased bone mineral density, Midface retrusion, C... |
ORPHA:628 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th... |
ORPHA:1240 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Microm... |
ORPHA:440354 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Tracheobronchomalacia, Short phalanx of finger, Broad m... |
ORPHA:56304 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Oligohyd... |
ORPHA:2145 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, ... |
OMIM:108720 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Talipes, Micromelia, Abnor... |
ORPHA:1842 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp... |
ORPHA:1277 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... |
OMIM:164900 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
W Syndrome |
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Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... |
ORPHA:2804 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Accelerated skeletal maturation, Squared... |
OMIM:215045 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... |
OMIM:143095 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti... |
OMIM:617895 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Lymphedema, Calvarial skull ... |
ORPHA:1426 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va... |
OMIM:608940 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car... |
ORPHA:93351 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing,... |
ORPHA:251028 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Micrognathia, Narrow mouth, Whistling appearance, ... |
OMIM:277720 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Frontal bossing, Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptoda... |
OMIM:614257 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Midface retrusion, Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd... |
OMIM:118651 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Kniest Dysplasia |
|
Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomeli... |
OMIM:156550 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... |
ORPHA:3035 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Brachycephaly, Knee flexion contracture, High pa... |
OMIM:121050 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Pterygium, Micromelia, Craniosyno... |
ORPHA:93329 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda... |
OMIM:614091 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu... |
OMIM:602111 |
20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camp... |
ORPHA:444051 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Ac... |
OMIM:211750 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narr... |
OMIM:618435 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Smal... |
OMIM:300590 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis,... |
OMIM:613320 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... |
ORPHA:2935 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn... |
OMIM:601559 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Micromelia, Coxa valga, Con... |
ORPHA:166272 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia... |
OMIM:255800 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Inguinal hernia, Arachnodacty... |
OMIM:615539 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger... |
OMIM:619636 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pes planus, Rocker bottom foot, Polyhydramnios, Tapered finger, Carious teeth, Pericardial effusi... |
OMIM:620070 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia |
OMIM:618453 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal... |
ORPHA:2635 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Joint stiffness, Limitation of ... |
ORPHA:1801 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Micrognathia, High... |
OMIM:618393 |
Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Arthrogryposis, Distal, Type 1C |
|
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... |
OMIM:619110 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas... |
OMIM:300280 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Clinodactyly o... |
OMIM:619721 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Achondrogenesis Type 1A |
|
Short palm, Frontal bossing, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, Polyh... |
ORPHA:93299 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Frontal bossing, Cloverleaf skull, Micromelia, Polyhydramnios, Joint stiffn... |
ORPHA:2655 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial poly... |
OMIM:614815 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft palate, High pal... |
ORPHA:1784 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... |
OMIM:201000 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac... |
ORPHA:1865 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:612651 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis, Foot o... |
ORPHA:2879 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... |
OMIM:225280 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Dental crowding, Micromelia, Limited elbow extension, Short me... |
OMIM:180870 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Abnormality of the den... |
OMIM:179613 |
Achondroplasia |
|
Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of... |
OMIM:100800 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Frontal ... |
OMIM:600325 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Micrognat... |
ORPHA:776 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc... |
OMIM:277440 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... |
ORPHA:435638 |
Achondrogenesis Type 1B |
|
Frontal bossing, Femoral hernia, Micromelia, Micrognathia, Polyhydramnios, Abnormal enchondral os... |
ORPHA:93298 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... |
OMIM:235510 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone-shaped epiphyses o... |
OMIM:602849 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Delayed skeletal ... |
ORPHA:63446 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Frontal bossing, Abnormal dental ename... |
ORPHA:3258 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma... |
ORPHA:3268 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc... |
OMIM:264700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ... |
OMIM:307800 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Micro... |
OMIM:618142 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Midface retrusion, Elbow dislocation, Absent radi... |
OMIM:171480 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Flat occiput, Abnormal thumb morphology, Abnormal metacarpa... |
ORPHA:2511 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def... |
ORPHA:1908 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas... |
ORPHA:93296 |
Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Polyhydramnios, ... |
OMIM:187601 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Cardiomegaly, Micrognathia, Multiple prenatal fractures, Flexion cont... |
OMIM:616897 |
German Syndrome |
|
Camptodactyly of finger, Micrognathia, Lymphedema, Limitation of joint mobility, Brachycephaly, O... |
ORPHA:2077 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractu... |
OMIM:259420 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Brachycep... |
ORPHA:175 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Edema, Micrognathia, Pericardial effusion, Abnormal foot morphology, Cutaneous s... |
OMIM:617822 |
Achondrogenesis |
|
Frontal bossing, Inguinal hernia, Polyhydramnios, Micrognathia, Micromelia, Abnormal enchondral o... |
ORPHA:932 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo... |
OMIM:602875 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Oligodontia, High palate, A... |
OMIM:612313 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Keipert Syndrome |
|
Joint laxity, Midface retrusion, Broad hallux, Exaggerated cupid's bow, Downturned corners of mou... |
OMIM:301026 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ... |
OMIM:158300 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Edema, Pericardial effusion, Delayed skeletal maturation, Hip dislocation, Brach... |
OMIM:608776 |
Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Talipes, Limitation of joint m... |
ORPHA:376 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... |
OMIM:600081 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Talipes equinovalgus, Tibia... |
ORPHA:453510 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Brachycephaly, De... |
OMIM:617364 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle,... |
OMIM:220210 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ... |
ORPHA:3434 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased cal... |
ORPHA:2772 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Brachycephal... |
ORPHA:1387 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do... |
ORPHA:1520 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Brachycephaly,... |
ORPHA:251019 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Polyhydramnios, Flexion contracture, Elbow flexion contracture, Retrognathia, ... |
OMIM:617194 |
Corpus Callosum, Agenesis Of |
|
Frontal bossing, Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... |
ORPHA:1937 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Asplenia, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, High pa... |
ORPHA:99776 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Polyhydramnios, Micromelia, Increased nuchal translucency, Lim... |
ORPHA:93274 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Polyhydramn... |
ORPHA:1860 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Nonimmune hydrops fetalis, Recurrent fractu... |
OMIM:166210 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal f... |
ORPHA:369891 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... |
OMIM:216100 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Finger joint hypermobilit... |
ORPHA:363705 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Narrow mouth, D... |
ORPHA:261120 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Limitation of joint mobility, Micromelia, Coxa vara |
ORPHA:168555 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Hypoplasia ... |
OMIM:264180 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal oss... |
OMIM:114290 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot... |
ORPHA:238750 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Posta... |
OMIM:136760 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexi... |
OMIM:207410 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly |
ORPHA:35099 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Midface retrusion, Frontal bossing, Tibial torsion, Knee osteoarthritis, Fl... |
OMIM:600204 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Clinodactyly of the 5th finger, Long philtrum, Hypoplasia... |
ORPHA:2616 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Midface retrusion, Frontal bossing, Broad hallux, Sandal gap, Cleft ... |
OMIM:618529 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Brachycephaly, Femoral b... |
OMIM:274000 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Atrial septal defect, Microdontia, ... |
ORPHA:289 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula... |
OMIM:619142 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Parietal foramina... |
OMIM:601224 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Brachycephaly, Short foot, Everted lower lip vermilion, ... |
ORPHA:228399 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Spinal muscular atrophy |
OMIM:271109 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, High pala... |
OMIM:618363 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Pulmonic s... |
OMIM:249670 |
Pierpont Syndrome |
|
Prominent subcalcaneal fat pad, Short toe, Deep plantar creases, Broad palm, Brachycephaly, Short... |
OMIM:602342 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Talipes equinovarus, Ca... |
OMIM:618011 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, M... |
ORPHA:3121 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Overlapping toe, Postaxial polyd... |
OMIM:613792 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Mitral valve prolapse... |
OMIM:211960 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... |
OMIM:610140 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of... |
ORPHA:1225 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiect... |
OMIM:616006 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Brachyceph... |
ORPHA:2097 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... |
OMIM:241530 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Pes planus, Short toe, Abnormal subcutaneous fat tissue d... |
ORPHA:487825 |
Perching Syndrome |
|
Joint contracture, High palate, Camptodactyly |
OMIM:617055 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... |
ORPHA:404440 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Dow... |
OMIM:617752 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Polyhydramnios, Abnormal ... |
OMIM:200600 |
Image Syndrome |
|
Metaphyseal dysplasia, Frontal bossing, Micromelia |
ORPHA:85173 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... |
ORPHA:96334 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Ollier Disease |
|
Micromelia, Joint stiffness, Bone pain, Osteolysis, Lymphangioma, Abnormal metaphysis morphology |
ORPHA:296 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Hypophosphatasia, Infantile |
|
Micromelia, Abnormality of the dentition, Bowing of the legs, Craniosynostosis, Polyhydramnios, I... |
OMIM:241500 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Osteopenia, Pes planus, Ventricular septal defect, Single transverse palmar crease, Deep philtrum... |
OMIM:619717 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower... |
OMIM:615761 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Talipes equinovarus, Camptodactyly, Ove... |
OMIM:618436 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... |
ORPHA:1327 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... |
OMIM:613848 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Ventricular septal defect, 2-3 toe syndactyly, Brachycephaly, High palate, Talip... |
ORPHA:3306 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Ventricular... |
ORPHA:93267 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Hypoplasia of the maxilla, Multiple prenatal fractures,... |
OMIM:215140 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... |
ORPHA:505237 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Neonatal death, Micr... |
OMIM:259775 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Small hand, Brachycephaly, Cleft palat... |
OMIM:300882 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Increased bone mineral density, Coxa valga, Micrognathia, Abnormality of the elb... |
ORPHA:163649 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Everted upper lip vermilion, Abnormality of the dentition, Vel... |
OMIM:182290 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, A... |
OMIM:245600 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Widened atrophic scar, Equinus calcaneus, Micrognathia, Knee dislo... |
ORPHA:536532 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Rocker... |
OMIM:619762 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Pes planus, Inguinal hernia, Sagittal craniosynostosis, Micrognathia, Trigonocephaly, Scaphocepha... |
ORPHA:459061 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... |
ORPHA:916 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Wide cranial sutures, Flat... |
ORPHA:289157 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Ankle flexion contracture, Microgna... |
ORPHA:1143 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Endocardial Fibroelastosis |
|
Sandal gap, Micrognathia, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardi... |
ORPHA:2022 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Winchester Syndrome |
|
Arthropathy, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad met... |
OMIM:277950 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Polyhydr... |
OMIM:263210 |
Greig Cephalopolysyndactyly Syndrome |
|
Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux... |
OMIM:175700 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte... |
OMIM:602557 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Abnormality of the dentition, Micrognathia, Split hand, Co... |
OMIM:157900 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Cloverleaf skull, Micromelia |
OMIM:156830 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo... |
OMIM:602152 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Lymphedema, Hydrops fetalis,... |
ORPHA:1318 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Ventricular sept... |
OMIM:617452 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,... |
OMIM:618577 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft,... |
OMIM:618804 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p... |
OMIM:212720 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth... |
OMIM:600972 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil... |
OMIM:616789 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Narrow ... |
OMIM:224410 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p... |
OMIM:617926 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Pes planus, Tapered finger, Small hand, Brachycephaly, Downturned corners ... |
OMIM:618672 |
Glutamine Deficiency, Congenital |
|
Micromelia, Flexion contracture, Thin vermilion border, Bradycardia, Camptodactyly, Neonatal death |
OMIM:610015 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... |
OMIM:246560 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Telan... |
ORPHA:2176 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... |
OMIM:619980 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb,... |
ORPHA:1488 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Recurrent ... |
OMIM:613849 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility |
ORPHA:238446 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion |
OMIM:300261 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Bifid uvula, In... |
ORPHA:2780 |
Hydrolethalus |
|
Micromelia, Micrognathia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate, Dolichocepha... |
ORPHA:168624 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Protrud... |
OMIM:300963 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Delayed skelet... |
OMIM:614800 |
Isolated Osteopoikilosis |
|
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... |
ORPHA:166119 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Decreased muscle mass, Limited elbow movement, Microg... |
OMIM:615065 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Ulnar bowing, Shortening of all d... |
OMIM:619135 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Joint laxity, Frontal bossing, Tented upper lip vermilion, 2-3 toe cutaneo... |
OMIM:615828 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Decreased palmar creases, Micrognathia, Deep philtrum, Brachycephaly, Wide mouth... |
OMIM:615834 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Frontal bossing, Single transverse palmar crease, Micrognathia, Pierre-... |
OMIM:613604 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,... |
ORPHA:1146 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia, Delayed skeletal maturation, Abnormality of the elbow, Joint hyperflexibi... |
ORPHA:2220 |
Pelger-Huet Anomaly |
|
Frontal bossing, Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of the dentiti... |
OMIM:169400 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Delayed epiphyseal ossification, Triangular mouth, Genu valgum,... |
ORPHA:166024 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... |
OMIM:619143 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Multiple lipomas, Hand polydactyly, Sacral lipoma... |
OMIM:223200 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Brachycephaly, High palate, Hypodontia, Atrial septal defect, Anal atresia,... |
OMIM:616854 |
Otopalatodigital Syndrome Type 1 |
|
Thickened calvaria, Bowing of the long bones, Increased bone mineral density, Sandal gap, Short h... |
ORPHA:90650 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Brachycep... |
ORPHA:171839 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... |
OMIM:139210 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Atrial septal defect, Sandal gap, Ventricula... |
ORPHA:254346 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Plagiocepha... |
ORPHA:2021 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ... |
ORPHA:93315 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,... |
ORPHA:1515 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Paten... |
OMIM:616894 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ... |
OMIM:231070 |
Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo... |
OMIM:102150 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly |
OMIM:615984 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... |
OMIM:101200 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:619343 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... |
OMIM:122470 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Midface retrusion, Ventricular septal defect, Abnormal thumb morphology, Metatar... |
ORPHA:500095 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Flat occiput, Ankle flexion contracture, Micrognathia, High, narrow palate, Splenomeg... |
OMIM:608799 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Delayed skeletal maturation, Congenital generalized lipody... |
OMIM:608154 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Trigonocephaly, Wide mout... |
OMIM:618506 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Generalized joint laxity, ... |
ORPHA:93360 |
Sweeney-Cox Syndrome |
|
Flat occiput, Polyhydramnios, Micrognathia, Asplenia, Brachycephaly, High palate, Short philtrum,... |
OMIM:617746 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clin... |
OMIM:620393 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... |
OMIM:228520 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Inguinal hernia, Polyhydr... |
OMIM:616809 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve... |
OMIM:614701 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Micrognathia, Cleft palate, High palate, Arthrogryposi... |
OMIM:615731 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septa... |
ORPHA:401935 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Turricephaly, Large carpal bones, Micrognathia, Trigon... |
ORPHA:99330 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Atrial septal defect, Dislo... |
OMIM:605039 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cleft palate, Pulmonic stenosis, Ca... |
OMIM:619123 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... |
ORPHA:65759 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, Anteriorly placed anus, Large hands, Camp... |
OMIM:618786 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Plagiocephaly, Radioulnar synostos... |
ORPHA:11 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip... |
ORPHA:363444 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Edema... |
OMIM:200610 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multip... |
OMIM:616570 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... |
ORPHA:166100 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Joint laxity, Rhizomelia, Hypoplastic ilia, Short toe, Fl... |
OMIM:607095 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Brachycephaly, Subvalvular aortic stenosis,... |
OMIM:600430 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia |
ORPHA:79107 |
Hamamy Syndrome |
|
Osteopenia, Prolonged QRS complex, Micrognathia, Brachycephaly, High palate, Atrial septal defect... |
OMIM:611174 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ... |
ORPHA:2136 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Cl... |
OMIM:612582 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... |
OMIM:305620 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Schaaf-Yang Syndrome |
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Mandibular prognathia, Frontal bossing, Abnormality of the philtrum, Rocker bottom foot, Tapered ... |
OMIM:615547 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Atrial septal defect, Micromelia, Delayed skeletal maturation, Coxa vara, Narrow pelvis bone, Too... |
ORPHA:2637 |
Desbuquois Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio... |
ORPHA:1425 |
Desmosterolosis |
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Frontal bossing, Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia... |
ORPHA:35107 |
Brachydactyly-Syndactyly Syndrome |
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Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
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Jaw swelling, Flexion contracture of toe, Camptodactyly of finger, Gingival overgrowth |
OMIM:619323 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Congestive heart failure, Short long bone, Stillbirth, Camptodactyly, N... |
OMIM:619751 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Joint laxity, Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Short philtrum, Ta... |
OMIM:301039 |
Thiemann Disease |
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Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Congenital Heart Block |
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First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cardiocranial Syndrome, Pfeiffer Type |
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Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
Al Kaissi Syndrome |
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Thin upper lip vermilion, Torticollis, Pes planus, Macrodontia, High, narrow palate, Small hand, ... |
OMIM:617694 |
Alg9-Cdg |
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Villous atrophy, Micrognathia, Hydrops fetalis, Brachycephaly, Right ventricular dilatation, Narr... |
ORPHA:79328 |
Loeys-Dietz Syndrome 5 |
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Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, At... |
OMIM:615582 |
Acromicric Dysplasia |
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Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Delayed skeletal matura... |
OMIM:102370 |
Rhizomelic Limb Shortening With Dysmorphic Features |
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Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Charlie M Syndrome |
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Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... |
ORPHA:1406 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:613576 |
Monosomy 5P |
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Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Small hand, Joint hyp... |
ORPHA:281 |
Schwartz-Jampel Syndrome |
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Skeletal muscle atrophy, Micromelia, Micrognathia, Polyhydramnios, Coxa vara, High palate, Wrist ... |
ORPHA:800 |
Mulibrey Nanism |
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Frontal bossing, Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal s... |
OMIM:253250 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B... |
OMIM:619148 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Radio-Renal Syndrome |
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Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow... |
ORPHA:3015 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
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Microretrognathia, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodactyly of finger, A... |
ORPHA:2994 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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Delayed eruption of teeth, Dental crowding, Splenomegaly, Macroglossia, Long philtrum, High palat... |
OMIM:616354 |
Holzgreve Syndrome |
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Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Larsen-Like Syndrome |
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Joint dislocation, Joint laxity, Frontal bossing, Delayed skeletal maturation, Dental malocclusio... |
OMIM:608545 |
Diamond-Blackfan Anemia 6 |
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Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Micrognathia... |
OMIM:612561 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Facial palsy, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, ... |
OMIM:272430 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre... |
ORPHA:83 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Micromelia |
ORPHA:291 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Inguinal hernia, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal va... |
OMIM:616028 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Brachycephaly, High palate, Transposition of the great a... |
ORPHA:1913 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Frontal bossing, Rhizomelia, Congestive heart failure, Tibial bowing, Femoral bowing, Neonatal de... |
OMIM:616482 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Joint stiffness, Cle... |
ORPHA:577 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Brachycephaly, Dextrotransposition of the great arteries, Ankle clonus... |
OMIM:619995 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Frontal bossing, Dental crowding, Palpebral edema, Deep philtrum, Hepatosplenomegaly, Macroglossi... |
ORPHA:397709 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... |
ORPHA:464329 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial pals... |
OMIM:301041 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Microretrognathia, Mesoaxial po... |
ORPHA:672 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Thin upper lip vermilion, Noncompaction cardiomyopathy, Single... |
OMIM:616651 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... |
OMIM:166300 |
Arthrogryposis, Distal, Type 2E |
|
Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Talipes equinovarus, Narrow... |
OMIM:121070 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fracture, Proxim... |
ORPHA:83468 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... |
ORPHA:178382 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... |
OMIM:612350 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkeratosis, Clubbing, Palmo... |
ORPHA:2199 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Abnormal metacarpal morp... |
ORPHA:93262 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Frontal bossing, Lower limb asymmetry, Cleft palate, Abnormal heart morphology, Clinodactyly of t... |
ORPHA:231147 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Inguinal hernia, Frontal bossing, Abnormal mitral valve morphology, Delayed... |
ORPHA:1292 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Weaver Syndrome |
|
Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Micrognathia, Accelerate... |
ORPHA:3447 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... |
ORPHA:251076 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Single t... |
OMIM:618950 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb... |
ORPHA:562528 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... |
OMIM:616546 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosis, Trigonocephaly, High palat... |
OMIM:314320 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process |
OMIM:612913 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prom... |
ORPHA:1272 |
Schisis Association |
|
Omphalocele, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate... |
ORPHA:63862 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Smooth philtrum |
OMIM:602501 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Diastasis recti, Delayed closure of the anterior fontanelle, Lower limb asymmetr... |
ORPHA:231140 |
Kagami-Ogata Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Frontal bossing, Ventricular septal defect, D... |
OMIM:608149 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Ventricul... |
OMIM:263520 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Camptodactyly of finger, Non-midline cleft lip, Thick lower l... |
ORPHA:3080 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Polyhydramnios, Flexion contractur... |
ORPHA:2671 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagioc... |
ORPHA:53271 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... |
ORPHA:1159 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Lymphedema, Brachycephaly, Cleft palate, Downturned corners of mouth... |
ORPHA:1598 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morp... |
ORPHA:217017 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Mandibular prognathia, Dental crowding, Polyhydramnios, Knee flexion contractu... |
OMIM:193700 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Micrognathia, Flexion c... |
OMIM:214150 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Persistence of primary teeth... |
OMIM:610253 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Tarsal synostosis,... |
OMIM:178110 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Single transverse palmar crea... |
OMIM:114300 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Acromicria, Small hand, Abnormal heart morphology, Short foot, Downturned corners o... |
ORPHA:254525 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac sep... |
ORPHA:83473 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Beck-Fahrner Syndrome |
|
Pes planus, Ventricular septal defect, Facial hypotonia, Cardiomegaly, Accelerated skeletal matur... |
OMIM:618798 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Micrognathia, Secundum atrial septal defect, Brachycephaly, High palate... |
OMIM:249420 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... |
OMIM:173800 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, ... |
OMIM:256520 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Micrognathia... |
OMIM:617164 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Brach... |
ORPHA:3103 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Frontal bossing, Tapered finger, Lymphede... |
OMIM:607131 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Micrognathia, Knee flexion contracture, Widely spaced teeth, Camptodactyl... |
OMIM:619694 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ... |
ORPHA:230851 |
Hypophosphatasia, Childhood |
|
Frontal bossing, Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the ... |
OMIM:241510 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Inguinal hernia, Micrognathia, Metatarsus adductu... |
OMIM:616266 |
Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Paroxysmal atrial fibrillation, Ventricular septal defec... |
ORPHA:392 |
Congenital Myopathy 12 |
|
Arachnodactyly, Polyhydramnios, Dolichocephaly, High, narrow palate, Jaw contracture, Scaphocepha... |
OMIM:612540 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... |
ORPHA:3107 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Tapered finger, Brachycephaly, Downturned corners of mouth, Clinodactyl... |
ORPHA:352530 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Ventricular septal defect, Single transver... |
OMIM:272950 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Me... |
ORPHA:199241 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... |
OMIM:613684 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Hypoplastic l... |
ORPHA:2001 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... |
OMIM:218000 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho... |
ORPHA:1278 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality ... |
ORPHA:163966 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Trigono... |
OMIM:604757 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, Micrognathia, High, narrow ... |
OMIM:248700 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Palpebral edema, Micromelia, Polyhy... |
ORPHA:50810 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Ventricular septal defect, Polyhydram... |
ORPHA:2256 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... |
OMIM:311900 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Ventricular septal defect, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, ... |
ORPHA:261243 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhizomelia,... |
OMIM:611209 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip dysplasia, Narrow mouth, A... |
OMIM:611961 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic sut... |
ORPHA:3369 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichoce... |
OMIM:615433 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Turricephaly, Palpebral edema, Single transverse palmar crease, Micrognathia, Metatarsus adductus... |
OMIM:214110 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder morphology, Ab... |
ORPHA:85438 |
Autosomal Recessive Amelia |
|
Polyhydramnios, Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum mor... |
ORPHA:1027 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Inguinal hernia, Craniosynostosis, Thick lower lip vermilion, Genu varu... |
OMIM:619451 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ... |
ORPHA:798 |
Cog7-Cdg |
|
Micrognathia, Long fingers, Abnormal finger morphology, Abnormal heart morphology, Hepatosplenome... |
ORPHA:79333 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ... |
OMIM:222600 |
2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Sandal gap, Macrodontia, Brachycephaly, Hip dysplasia, Everted lower ... |
ORPHA:228402 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,... |
OMIM:300602 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... |
ORPHA:3469 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Microg... |
OMIM:618348 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, High... |
ORPHA:1927 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... |
ORPHA:2863 |
Acrocephalopolydactyly |
|
Genu recurvatum, Oxycephaly, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante... |
OMIM:305450 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Frontal bossing, Pes planus, Arachnodactyly, Dental crowding, Sandal gap, I... |
OMIM:617602 |
Joubert Syndrome 10 |
|
Frontal bossing, Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Delayed skeletal maturation, Hip subluxation, Reduced bone mineral density |
OMIM:620200 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb, Flared metaphysis, Hip... |
OMIM:610758 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ... |
OMIM:617022 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Micrognathia, Cleft lip, Partial duplication of thumb ... |
OMIM:616730 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Polyhydramnios, Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnor... |
ORPHA:1150 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Micrognathia, Brachycephaly, Joint hyperflexibility, Everted lower lip vermilion... |
ORPHA:1695 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Wormian bones, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, P... |
OMIM:617808 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... |
OMIM:269250 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Basilicata-Akhtar Syndrome |
|
Short palm, Tented upper lip vermilion, Single transverse palmar crease, Dolichocephaly, Short fo... |
OMIM:301032 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Protruding tongue, Abnormal thumb... |
ORPHA:324410 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin... |
OMIM:616145 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop... |
ORPHA:1540 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Atrial septal defect, Hypoplastic cervical vertebrae, Joint l... |
OMIM:150250 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Conge... |
ORPHA:380 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Increased susceptibility to fracture... |
ORPHA:79094 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Frontal bossing, Ventricular septal defect, Micrognathia, Long fingers, Increased nucha... |
OMIM:615668 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar... |
OMIM:257850 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick ... |
OMIM:612938 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femor... |
OMIM:620076 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve, Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee ... |
OMIM:184900 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... |
ORPHA:2251 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertro... |
OMIM:252500 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Facial hypotonia, Tapered... |
OMIM:616801 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb,... |
ORPHA:436003 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Micrognathia,... |
OMIM:608572 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Micrognathia, Abnormal muscle fiber morphology, Flexion contracture, Hip d... |
ORPHA:75840 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachycephaly, Micrognathia |
ORPHA:1514 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Pes planus, Macrodontia, Ventricular septal defect, Proximal p... |
OMIM:212066 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Ta... |
OMIM:158170 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Sclerosteosis |
|
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Facial palsy, 2-3 f... |
ORPHA:3152 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost... |
ORPHA:666 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, ... |
OMIM:300373 |
Wieacker-Wolff Syndrome |
|
U-Shaped upper lip vermilion, Facial palsy, Proximal placement of thumb, Micrognathia, Hip disloc... |
OMIM:314580 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Broad palm, N... |
OMIM:277600 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Lower limb asymmetry, Abnormal tibia morphology, Upper limb asymmetry, S... |
ORPHA:64755 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Sandal gap, Aganglionic megacolon, P... |
OMIM:174300 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatosplenomegaly, Lymp... |
OMIM:602782 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Abnormal tongue morphology, Abnormal heart morphology, Downturned corn... |
ORPHA:531151 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o... |
ORPHA:576283 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen... |
OMIM:604841 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor... |
OMIM:615222 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Br... |
ORPHA:96148 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Turricephaly, Carious teeth, Flexion contracture, Hip di... |
OMIM:203550 |
Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Generalized amyotrophy |
OMIM:616540 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Reduced bone mineral density, Delayed ossification of carpal bones, Short femora... |
OMIM:618392 |
Meckel Syndrome, Type 10 |
|
Frontal bossing, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, ... |
OMIM:614175 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Frontal bossing, Hamartoma of tongue, Micrognathia, Central Y-... |
ORPHA:2754 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial... |
ORPHA:921 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Hig... |
ORPHA:1308 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Pes planus, Down-sloping shoul... |
ORPHA:96263 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Delayed sk... |
ORPHA:1837 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... |
OMIM:263650 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metac... |
OMIM:608328 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Increased bone mineral density, Osteomalacia, Craniosynostosis, Malabs... |
ORPHA:289176 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Equino... |
OMIM:609128 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cleft ... |
ORPHA:1166 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Brachycephaly, Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th fi... |
OMIM:611962 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Delayed... |
ORPHA:1825 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Brachycephaly, Hand polydactyly, B... |
ORPHA:2377 |
Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Prot... |
ORPHA:870 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Edema, Metaphyseal sclerosis, Peri... |
ORPHA:2905 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... |
OMIM:182212 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Bilateral single transverse palmar creases, Ventricular septal defect, Micrognathia, Joint stiffn... |
ORPHA:2516 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Dpm1-Cdg |
|
Tented upper lip vermilion, Sandal gap, Flat occiput, Trigonocephaly, Micrognathia, High, narrow ... |
ORPHA:79322 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio... |
OMIM:618624 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Frontal bossing, Telangiectasia of the skin, Ventri... |
ORPHA:52 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Brachycephaly, Wide m... |
ORPHA:2707 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Tapered finger, Thick lower lip vermi... |
ORPHA:261652 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Deep philtrum, Delayed skeletal maturation, Joint hyperf... |
ORPHA:2475 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Seckel Syndrome 7 |
|
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clino... |
OMIM:614851 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect... |
OMIM:617360 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent f... |
OMIM:269860 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Brachycephaly, Long philtrum, Sm... |
ORPHA:46 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Delayed skeletal maturation, Gingival overgrowth, Cleft pa... |
ORPHA:2013 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Neonatal death, ... |
OMIM:617925 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... |
OMIM:265000 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Tapered finger... |
OMIM:618430 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, High palate, Camptodactyly, Atrial septal defect |
OMIM:614846 |
Rhizomelic Syndrome |
|
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ... |
OMIM:268250 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single trans... |
ORPHA:435938 |
Congenital Myopathy 15 |
|
Osteopenia, Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal muscle, Increa... |
OMIM:620161 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar cutis laxa, Mal... |
OMIM:268850 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Frontal bossing, Scapular winging, Dolichocephaly, Delayed skeletal ma... |
OMIM:612921 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Joint stiffness, Dolichocephaly, Joint hyperflexibilit... |
ORPHA:40 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Brachycephaly, Knee flexion contracture, High p... |
OMIM:613776 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac... |
OMIM:277590 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Brachycephaly, Hand polydactyly, High palate, Broad thumb |
OMIM:239710 |
Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Cleft pala... |
ORPHA:503 |
Potocki-Shaffer Syndrome |
|
Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Hypertension, Short ... |
ORPHA:52022 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Frontal bossing, Pes planus, Toe syndactyly, Tented upper lip vermilion, D... |
ORPHA:819 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Wrist swelling, Limitation of joint mobili... |
ORPHA:2774 |
Orofaciodigital Syndrome Xix |
|
Frontal bossing, Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory... |
OMIM:620107 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibilit... |
ORPHA:1777 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Pes planus, Down-sloping shoulders, Abnormal de... |
ORPHA:96264 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Pierre-Robin sequence, F... |
OMIM:215150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Transposition of the... |
OMIM:619910 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ... |
ORPHA:352540 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft... |
ORPHA:1692 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Palmar pits, Carious te... |
ORPHA:377 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim... |
ORPHA:261323 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Frontal bossin... |
OMIM:247200 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi... |
OMIM:101400 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Joint hypermobility, Micrognathia, Long fingers, Atypical scarring of skin, Atro... |
OMIM:618343 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Genu recurvatum, Camptodactyly... |
ORPHA:137834 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Short palm, Failure of eruption... |
ORPHA:3238 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Brachycep... |
ORPHA:199 |
Down Syndrome |
|
Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Sho... |
OMIM:190685 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Lower limb asy... |
OMIM:300968 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... |
OMIM:615236 |
3C Syndrome |
|
Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial s... |
ORPHA:7 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Plagiocephaly, Tapered finger |
OMIM:618725 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Parietal foramina, Ce... |
OMIM:617450 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Sl... |
OMIM:147800 |
Kbg Syndrome |
|
Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Sin... |
ORPHA:2332 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Neck joint contracture, Flexion contracture, Elbow fl... |
ORPHA:209951 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Pes cavus, Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short f... |
OMIM:275900 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Inguinal hernia, Sandal gap, Delayed skeletal maturation, Thick lower ... |
OMIM:614607 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Cran... |
OMIM:252600 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Long fingers, B... |
OMIM:613174 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Sandal gap, Dental crowding, Short toe, P... |
OMIM:617877 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinov... |
OMIM:612626 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Widely ... |
OMIM:618268 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
Partington Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:309510 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Deep philtrum, Delayed skeletal... |
OMIM:615398 |
Trisomy 20P |
|
Micrognathia, Brachycephaly, Reduced bone mineral density, Downturned corners of mouth, Short phi... |
ORPHA:261318 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Micrognathia, Pericardial effusion, Cardiomyopathy, High palate |
OMIM:620089 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered ... |
OMIM:616737 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Limitation of joint mobility, Mitral regurgitation, Pulmo... |
ORPHA:3449 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Perimembranous ventricular septal defect, Protein-losing enteropathy, Talipes equinovarus,... |
OMIM:608104 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Atrial septal defect, Sandal gap, Single transverse p... |
OMIM:617061 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Qazi-Markouizos Syndrome |
|
Dysharmonic bone age, Torticollis, Tapered finger, High, narrow palate, Hypoplasia of teeth, Dela... |
ORPHA:3010 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy... |
OMIM:615959 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Syndactyly, Anal stenosis, Micrognathia, Lymphedema, Narrow mout... |
ORPHA:314679 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa v... |
OMIM:614976 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired m... |
ORPHA:158687 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Delayed... |
OMIM:184252 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, Chylopericardiu... |
ORPHA:2414 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, P... |
OMIM:192445 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydr... |
ORPHA:2204 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solitary median maxi... |
ORPHA:66625 |
Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Pericarditis, Mandibular prognathia, Delayed cranial s... |
OMIM:601088 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Micrognathia, Brachycep... |
ORPHA:247262 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized... |
OMIM:600373 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Delayed skeletal maturation, Thick lower lip vermilion, ... |
OMIM:608227 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Flexion contractur... |
OMIM:613870 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... |
ORPHA:508488 |
Distal Deletion 3P |
|
Inguinal hernia, Micrognathia, Postaxial hand polydactyly, Brachycephaly, Cleft palate, Downturne... |
ORPHA:1620 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Ventric... |
OMIM:601005 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Ventricular septal defec... |
ORPHA:1770 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... |
OMIM:617137 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p... |
OMIM:619127 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
White-Sutton Syndrome |
|
Mandibular prognathia, Joint laxity, Wormian bones, Facial hypotonia, Congenital diaphragmatic he... |
OMIM:616364 |
Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Brachycephaly... |
ORPHA:236 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,... |
ORPHA:3078 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Long ... |
OMIM:612916 |
Chime Syndrome |
|
Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clav... |
ORPHA:3474 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Downturned corners of mouth, Th... |
OMIM:618974 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Short finger, Clinodactyly |
OMIM:300049 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Abnormal myocardium morphology,... |
ORPHA:77259 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Camptodactyly, Retrognathia |
OMIM:604273 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... |
OMIM:235750 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Micrognathi... |
OMIM:254940 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Abn... |
ORPHA:93400 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atr... |
OMIM:613610 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Wide cranial sutures, Bicuspid aortic valve, Fron... |
OMIM:619149 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Pes planus, Sandal gap, Dolichocephaly, Long fingers, Increased nuchal ... |
ORPHA:357001 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Micrognathia... |
OMIM:215100 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Joint laxity, Inguinal hernia, Pes planus, Genu recurvatum, Calcaneovalgus ... |
OMIM:225320 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Oxyceph... |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the... |
OMIM:615630 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Thin upper lip vermilion, Pes planus, Sandal gap, Arachnodactyly, Flexion contracture, Upper limb... |
OMIM:617146 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Tricuspid regurgitation, Tapered finger, Tooth malposition, Wide mouth, Ri... |
OMIM:619576 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Widely spaced te... |
OMIM:156200 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Talipes equinovarus, Long philtrum |
OMIM:619972 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Symphalangism affecting th... |
ORPHA:710 |
6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cleft palate, Plagiocephaly, High pala... |
ORPHA:251056 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Long palm,... |
OMIM:309583 |
Three M Syndrome 3 |
|
Frontal bossing, Dolichocephaly, Slender long bone, Hip dysplasia, Thick vermilion border, Long p... |
OMIM:614205 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Narrow palm, Hip dislocation, Narrow palate, Brachyc... |
OMIM:619435 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv... |
ORPHA:1803 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Sandal gap, Ventricular septal def... |
OMIM:270450 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Calcaneovalgu... |
OMIM:612513 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal fi... |
ORPHA:896 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Inguinal hernia, Flat occiput, Ventricular septal defect, Polyhydramnio... |
OMIM:235255 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Narrow palate, Abnorma... |
ORPHA:1323 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Micrognathia, Narrow mouth, Delayed eruption of permanent teeth, Short dist... |
OMIM:619356 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Brachycephaly, Thicken... |
ORPHA:178377 |
Marshall Syndrome |
|
Thickened calvaria, Frontal bossing, Abnormality of the dentition, Micrognathia, Hypoplasia of th... |
ORPHA:560 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Frontal bossing, Micrognathia, Cleft palate, Short 5th finger, Polyd... |
ORPHA:397590 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Atrial septal defect, Micr... |
OMIM:613458 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Micrognathia, Malabsorption, Brachycephaly, Lymphadenopathy, Thin ver... |
ORPHA:99812 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Flexion contracture, Abnormal heart morphology, H... |
ORPHA:314588 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Trigonocephaly, Preaxial ha... |
OMIM:610536 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,... |
OMIM:614613 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Elbow contractur... |
OMIM:618162 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... |
OMIM:619736 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... |
ORPHA:95699 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morpholog... |
ORPHA:2167 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Polyhydramnios, Brachycephaly, Prominent interphalangeal ... |
OMIM:618371 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Small... |
OMIM:239800 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Thick lower lip vermil... |
OMIM:220500 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Fu... |
ORPHA:97360 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palat... |
ORPHA:447980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Frontal bossing,... |
OMIM:309520 |
Hypomelanosis Of Ito |
|
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... |
OMIM:300337 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Truncus arteriosus, Camptoda... |
ORPHA:2008 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Clef... |
OMIM:607597 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Polyhydramnios, Micrognathia, Dolichocephaly, Abnormal foot morphology, F... |
OMIM:618186 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Broad hallux, Micrognathia, High palate, Hypoplastic left heart, Polysplenia, Clinodactyly of the... |
OMIM:610543 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender l... |
OMIM:618265 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedem... |
ORPHA:36412 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t... |
ORPHA:93932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Areflexia of upper limbs, Upper limb muscle weakness, Areflexia of lower limbs, T... |
OMIM:616155 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Polyhydramnios, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Asci... |
ORPHA:1046 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Facial hypotonia, 2-3 toe cutaneous syndactyly, Brachycephaly, Short ... |
OMIM:300260 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... |
ORPHA:2563 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Delayed skeletal maturation, Short d... |
OMIM:614608 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft ... |
OMIM:184840 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Brachycephaly, High palate, Bilateral single transverse palmar creases, Prominent... |
ORPHA:261349 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Long philtrum, A... |
OMIM:619189 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse... |
OMIM:615656 |
Trisomy 1Q |
|
Microretrognathia, Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Downturned corners of m... |
ORPHA:2215 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Frontal bossing, Pes planus, Micr... |
OMIM:620029 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Atrial septal defect, Overlapping toe, Ventricular septal defect, High,... |
OMIM:618494 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Micrognathia, Flexion contracture, Cardiomyopathy, Myopathy, Everted lo... |
OMIM:616549 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma... |
OMIM:619720 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynost... |
OMIM:618027 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... |
ORPHA:570 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, ... |
ORPHA:354 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ... |
ORPHA:2063 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Frontal bossing, Craniofacial h... |
ORPHA:2484 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Micrognathia, Edema, Pol... |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Decreased muscle mass, Frontal bossing, Abnormality of t... |
ORPHA:171929 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft pala... |
ORPHA:90354 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Frontal bossing, Single transverse palmar crease, Portal hypertension, Dolichoceph... |
OMIM:613385 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Inguinal hernia, Omphalocele, Overlapping toe, Single transverse palmar c... |
ORPHA:254528 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... |
OMIM:620099 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Delayed skele... |
OMIM:219150 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... |
ORPHA:261330 |
Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Truncus arteriosus, Ventricular septal ... |
OMIM:615583 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Sandal gap, Ventricular septal defect, Joint hype... |
OMIM:619229 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion |
ORPHA:1532 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,... |
ORPHA:221120 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Brachycephaly,... |
ORPHA:2095 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of ... |
OMIM:280000 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Aplasia of... |
ORPHA:1358 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Downturned corners ... |
OMIM:615162 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Widely spaced ... |
ORPHA:709 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Accessory spleen, Joint laxity, Rhizomelia, Overlapping ... |
ORPHA:3379 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ... |
OMIM:300845 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Brac... |
OMIM:612474 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented u... |
OMIM:616723 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... |
ORPHA:1248 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Clinoda... |
ORPHA:1445 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Brachycephal... |
OMIM:606851 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Dextrocar... |
ORPHA:2437 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Everted lower lip v... |
ORPHA:357175 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the elbow, Small hand, Brach... |
ORPHA:85276 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Frontal bossing, Ventricular septal defect, Delayed skelet... |
ORPHA:3255 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
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Pes planus, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Short ... |
OMIM:618089 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Ventricular se... |
OMIM:612530 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Brachycephaly, Genu valgum, Wide ... |
OMIM:617798 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, 2-3 toe syn... |
ORPHA:313892 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Joint hypermobility, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus... |
OMIM:617333 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Trism... |
OMIM:227330 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Thin upper lip verm... |
ORPHA:3041 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia, Pes cavus |
OMIM:619092 |
Intellectual Disability, Birk-Barel Type |
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Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Micrognathia, Dolich... |
ORPHA:166108 |
Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Distal Duplication 5Q |
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Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... |
ORPHA:96097 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,... |
OMIM:615524 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
Developmental And Epileptic Encephalopathy 66 |
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Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Dextrocardia, Downturn... |
OMIM:618067 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Inguinal hernia, Rocker bottom foot, Cardiac arrest, Micrognathia, Polyhydramni... |
OMIM:618947 |
Seckel Syndrome 2 |
|
Micrognathia, Heart murmur, Clinodactyly of the 5th finger, Microdontia, Microglossia |
OMIM:606744 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
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Syndactyly, Short toe, Midface retrusion |
OMIM:612581 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Delayed skeletal maturation, Thick lower lip vermilio... |
OMIM:157980 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, A... |
ORPHA:1190 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Retrognathia, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Intestinal malr... |
OMIM:618280 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hypoplasia of the odontoi... |
OMIM:184250 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascul... |
ORPHA:77258 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Congenital hip dislocation, Long palm, Single tra... |
OMIM:244450 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ... |
OMIM:158900 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Brach... |
ORPHA:1519 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... |
OMIM:613443 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Postaxial polydactyly, Knee ... |
OMIM:603387 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax... |
OMIM:619879 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Frontal bossing, Micrognathia, Abnormal foot morphology, Delayed skeletal maturation,... |
OMIM:180860 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br... |
OMIM:614188 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
Triploidy |
|
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Micrognathia, Non-midline... |
ORPHA:3376 |
Joubert Syndrome 27 |
|
Frontal bossing, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, P... |
OMIM:619184 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Delayed skeletal maturation, Brachycephaly, Hypoplastic vertebral b... |
ORPHA:2163 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Skeletal muscle atrophy, Micrognathia, Brachycephaly, Wide mouth, Joint... |
OMIM:615419 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Pierre-Robin sequence, Cleft palate, Anter... |
OMIM:217980 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Thin upper lip vermilion, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Facial p... |
ORPHA:456312 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Torticollis, Broad hallux, Ventr... |
ORPHA:276432 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Accelerated skeletal maturation, High palate, Atrial septal defect, Clinodactyly of... |
OMIM:605130 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Micrognathia, Flexion contracture, Brachycephaly, Narrow palate, Ankle clo... |
OMIM:614222 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Deep philtrum, Abnormal heart ... |
ORPHA:314655 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broa... |
OMIM:614526 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypopl... |
ORPHA:96149 |
Noonan Syndrome 13 |
|
Micrognathia, Lymphedema, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Jo... |
OMIM:619087 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee osteoarthr... |
ORPHA:2848 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U... |
ORPHA:1147 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Delay... |
OMIM:271510 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Ventric... |
ORPHA:2962 |
20Q11.2 Microduplication Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Palpebral edema, Inguinal hernia, Trigonocep... |
ORPHA:363659 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Omphalocele, Overlapping toe, Exaggerated cupid's bow, Intest... |
OMIM:618316 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar ... |
OMIM:616449 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Frontal bossing, Hypopl... |
OMIM:615349 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Atrial septal defect, Prominent metopic ridge, Congenital hip dislocation,... |
OMIM:619512 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Abnormality of the denti... |
ORPHA:251038 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Abnormal h... |
ORPHA:500159 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Congenital hip dislocation, Femur fracture, Single transverse palmar cre... |
OMIM:618291 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... |
OMIM:615994 |
X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... |
ORPHA:93952 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... |
OMIM:619424 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Edema, Polyhydramnios, Posterior plagiocephaly, Short ... |
ORPHA:79324 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Calcaneovalgus deformity, Distal amyotrophy, Areflexia of lower limb... |
OMIM:162370 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Thin upper lip vermilion, Pes planus, Overriding aorta, Sandal gap, Bicuspid aortic... |
ORPHA:477817 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Downturned corners of mouth, Short philtrum, ... |
OMIM:601808 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosi... |
ORPHA:3191 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital d... |
OMIM:304110 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
Meester-Loeys Syndrome |
|
Joint dislocation, Frontal bossing, Pes planus, Arachnodactyly, Dolichocephaly, Gingival overgrow... |
OMIM:300989 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Oligohydramnios, Macroglossia, Ta... |
ORPHA:79325 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Cleft palate, High palate, Malar flattening, Open mouth |
OMIM:620021 |
Temple Syndrome |
|
Frontal bossing, Micrognathia, Flexion contracture, Small hand, Cleft palate, Short foot, High pa... |
OMIM:616222 |
13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Upper eyelid edema, Oligodontia, Hip d... |
ORPHA:412035 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... |
ORPHA:2549 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Lymphedema, Flexion contracture, Downtur... |
ORPHA:487796 |
Trisomy 17P |
|
Skeletal muscle atrophy, Prominent metopic ridge, Talipes, Tapered finger, Micrognathia, Flexion ... |
ORPHA:261290 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Situs inversus totalis, Small hand, Brach... |
ORPHA:1449 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Oral ulcer, Lymphadenopathy, Arthritis... |
ORPHA:93552 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Down-sloping shoulders, Micrognathia, Open bite, Deep philtru... |
ORPHA:1974 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, F... |
OMIM:201170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Micrognathia, Secundum atrial septal defect, Long hallux, High palate,... |
OMIM:620194 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Ventricular... |
OMIM:145420 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Craniosynostosis, Coxa valga, Polyhydramnios, Tali... |
OMIM:301056 |
Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Polyhyd... |
OMIM:229850 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... |
ORPHA:3003 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Pes planus, Facial palsy, Congenital diaphragmatic her... |
OMIM:301022 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Facial hypotonia, Postaxial po... |
OMIM:616362 |
Distal Deletion 15Q |
|
Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic he... |
ORPHA:1596 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,... |
ORPHA:1716 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Achondroplasia |
|
Frontal bossing, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx ... |
ORPHA:15 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Micrognathia, Dolichoc... |
ORPHA:228410 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Edema, Polyhydramnios, Flex... |
OMIM:253290 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Delayed skeletal matur... |
ORPHA:1787 |
Marfan Syndrome |
|
Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus... |
OMIM:154700 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Thin upper lip vermilion, Mandibular prognathia, Facial hypotonia, ... |
OMIM:300534 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Abnormal foot morphology, Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, C... |
OMIM:618198 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Pyloric stenosis, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Orofacial cleft, C... |
ORPHA:1752 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Muscular ventricular septal defect, Adducted thumb, Notched prim... |
OMIM:620062 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... |
OMIM:181180 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofa... |
OMIM:601701 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr... |
ORPHA:168549 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, ... |
ORPHA:2108 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Pes planus, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, T... |
ORPHA:555877 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Dental crowding, Micrognathia, High, narrow palate, Downturned corners of ... |
ORPHA:96182 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb ... |
ORPHA:319675 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Submucous cleft hard palate... |
OMIM:222765 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn... |
ORPHA:177 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Intracranial ... |
OMIM:309400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, High palate, Atrial septal defect, Ab... |
OMIM:601776 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... |
ORPHA:1194 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Rapadilino Syndrome |
|
Joint dislocation, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft pa... |
OMIM:266280 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Metatarsus valgus, ... |
ORPHA:3082 |
Hypomandibular Faciocranial Dysostosis |
|
Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Trigonocep... |
ORPHA:1790 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Cleft upper lip, Parietal foramina, Preaxial polyd... |
OMIM:603671 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachyc... |
ORPHA:1236 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Sandal gap, Single transverse palmar crease, Short hal... |
OMIM:608156 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Frontal bossing, Elbow contracture, Delayed skeletal maturation, Small hand, Antecubi... |
OMIM:616489 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Intra... |
OMIM:614424 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Midline central nervous system lipomas, Brachycephaly, Patellar hypoplasia, Wid... |
ORPHA:1827 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Brachycephaly, Cleft palate, Bifid uvula, Dysplastic pulmonary valve |
OMIM:300958 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ... |
OMIM:244300 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation... |
ORPHA:93328 |
Steel Syndrome |
|
Carpal synostosis, Pes planus, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Pes ca... |
OMIM:615155 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Abnormality of bone mineral density, Calvarial s... |
ORPHA:1114 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... |
ORPHA:2886 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Joint stiffness, Irregular femoral epiphysis, Submucou... |
OMIM:108300 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo... |
ORPHA:2588 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Facial palsy, Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Talipes e... |
OMIM:601596 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnorm... |
ORPHA:96167 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia, Brachycephaly, Cleft palate, Plagiocephaly, High palate... |
OMIM:618603 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m... |
ORPHA:2107 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Long fingers, Narrow mouth, Brachycephaly, Cleft palate, High palate, Long philtrum |
OMIM:156610 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned cor... |
OMIM:614230 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Abnormal fibula morphology,... |
ORPHA:1988 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... |
ORPHA:3071 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Single tr... |
ORPHA:329224 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... |
OMIM:615503 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Frontal bossing, Pes cavus, Sandal gap, Broad hallux, Dental crowding, ... |
OMIM:616078 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of the philtrum, Missing... |
ORPHA:2759 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Micrognathia, Dilated cardiomyopathy, Cleft palate, Prominent occiput, ... |
OMIM:603736 |
X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal... |
ORPHA:96201 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Malar flattening, Absent e... |
OMIM:109120 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca... |
OMIM:619657 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Edema, Hiatus hernia, Micrognathia, Narrow mouth, Hip dislocatio... |
OMIM:617729 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fib... |
OMIM:258315 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Brachycephaly, Cleft ... |
OMIM:601353 |
Omodysplasia 2 |
|
Short humerus, Frontal bossing, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fi... |
OMIM:164745 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, 2-3 to... |
ORPHA:3304 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Cleft lip, Brachycephaly, Narrow palate, Cleft palate, Contracture of the ... |
OMIM:618223 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Atrial septal defect, Frontal bossing, Rhizomelia, Single transverse palmar... |
OMIM:614114 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Cleft palate, Abnormal shoulder morph... |
ORPHA:2345 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Ventricular septal defect, Pyloric stenosis, Brachycephaly, Abnormal shape of th... |
OMIM:218350 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Joint hyperflexib... |
ORPHA:90653 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth... |
OMIM:201180 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Brachycephaly, Muscle fiber atroph... |
OMIM:620240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Distal Monosomy 7Q36 |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges of the h... |
ORPHA:1636 |
Silver-Russell Syndrome 2 |
|
Frontal bossing, Delayed closure of the anterior fontanelle, Micrognathia, Delayed skeletal matur... |
OMIM:618905 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture |
OMIM:619091 |
Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, Esophageal varix, ... |
OMIM:614576 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Skeletal muscle atrophy, Pes planus, Upper limb muscle weakness, Distal lower limb mu... |
OMIM:615284 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Atrial septal defect, Abnormality of the alveolar ridges,... |
OMIM:225500 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Sho... |
OMIM:617114 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Abnormal e... |
ORPHA:250984 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Heart block, Anteriorly placed anus, Copper beaten skull, High palate, Atrial... |
OMIM:617063 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophag... |
OMIM:250250 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn... |
ORPHA:96121 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Joint hypermobility, Cleft lip, Delayed skeletal maturation, Pierre-Rob... |
OMIM:619504 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Dilated ca... |
ORPHA:261250 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Clinodactyly of the 5th finger, Brachycephaly, Smooth philtrum |
OMIM:618828 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... |
OMIM:210600 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Ventricular septal defect, Recurrent fractures, Metaphyseal widening, Osteoporosis, T... |
OMIM:259770 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosyno... |
OMIM:614099 |
Laron Syndrome |
|
Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed skeletal maturation |
OMIM:262500 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Polyhydramnios, Narrow greater sciatic notch, Short phalanx... |
ORPHA:508533 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Sandal gap, Dental crowding, Micrognathia, Lower limb asymmetry, Delayed s... |
ORPHA:813 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Postaxial polydactyly, Craniosynostosis, Proboscis, Postaxial hand polydactyly, ... |
OMIM:605627 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th... |
OMIM:612289 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb... |
OMIM:607323 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneou... |
OMIM:148820 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Narrow foot, High palate, Short philtrum, Atr... |
OMIM:309500 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Trig... |
ORPHA:79113 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo... |
ORPHA:955 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... |
ORPHA:2010 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... |
ORPHA:2673 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Tapered finger, Malabsorption, Splenomegaly, Lymphedema, Hypogeusia, Furrow... |
ORPHA:2930 |
Sotos Syndrome |
|
Mandibular prognathia, Atrial septal defect, Joint laxity, Frontal bossing, Ventricular septal de... |
OMIM:117550 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Aplasia/Hypop... |
ORPHA:3305 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Craniosynost... |
OMIM:250410 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Polyhydramnios, Micrognathia, Limitation of joint mobil... |
ORPHA:2547 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... |
ORPHA:57777 |
Thrombocytopenia, Paris-Trousseau Type |
|
Micrognathia, Pyloric stenosis, Radial deviation of finger, Trigonocephaly, Clinodactyly |
OMIM:188025 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Flat occiput, Ventricular septal defect, Polyhydramnio... |
ORPHA:1655 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Splen... |
OMIM:301072 |
Cdags Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula... |
OMIM:603116 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Intestinal malrotation... |
ORPHA:93259 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat... |
OMIM:619322 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High... |
OMIM:616920 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Omphalocele, Dental crowding, Single interphal... |
OMIM:257920 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, 2-3 toe syndactyly, Large hands, Thick vermilion border, Do... |
ORPHA:1446 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Bicuspid a... |
ORPHA:457279 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... |
OMIM:272460 |
Cebalid Syndrome |
|
Turricephaly, Congenital diaphragmatic hernia, Platystencephaly, Brachycephaly, Plagiocephaly, Hi... |
OMIM:618774 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Pes planus, Sandal gap, Bicuspid aortic valve, Ventricula... |
OMIM:616652 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Splenomegaly, Clu... |
OMIM:181000 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Pes planus, Single transverse p... |
OMIM:123450 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneou... |
OMIM:236500 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Sandal gap, Small hand, Brachycephaly, Short foot, Short philtrum, Th... |
OMIM:618885 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin... |
ORPHA:2990 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Ventricular septal defect, Postaxial... |
ORPHA:2473 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thena... |
OMIM:618914 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea... |
ORPHA:59315 |
Meier-Gorlin Syndrome 2 |
|
Joint hypermobility, Micrognathia, Dolichocephaly, Delayed skeletal maturation, Patellar aplasia,... |
OMIM:613800 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Frontal bossing, Short metacarpal, Inguinal hernia, Ventricular septal defect, Pes... |
ORPHA:166035 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Frontal bossing, Dow... |
OMIM:109400 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Frontal bossing, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyl... |
ORPHA:93271 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Joint stiffness, Brachycephaly, High palate, Metopic synostosis, Clinodactyly ... |
ORPHA:324313 |
Zaki Syndrome |
|
Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Wide mouth, Median p... |
OMIM:619648 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hernia, Abnormal palate morphology |
ORPHA:251046 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Wide mo... |
ORPHA:217346 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Brachycephaly, Coxa vara, Inc... |
OMIM:610968 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ... |
OMIM:613398 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H... |
OMIM:117650 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... |
OMIM:214100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Single transverse pal... |
OMIM:619951 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Frontal bossing, Short foot, Joint hyperfl... |
ORPHA:250989 |
Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly |
OMIM:617681 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Embryonal rhabdomyosarcoma, Cleft palate, Oligohydramnios, Brachycephaly, Short ste... |
OMIM:257300 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pes cavus, Tricuspid regurgitation, Equinovarus deformity, Equinus calcaneus, Congestive heart fa... |
ORPHA:746 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Abnormality of skeleta... |
ORPHA:168572 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Edema, Mesomelic/rhizomelic limb shortening, Hypop... |
ORPHA:2347 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Antecubital p... |
OMIM:619339 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Persistent open anterior fontanelle, Tricuspid regurgitation, Ventricular s... |
OMIM:614866 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... |
ORPHA:521445 |
Cerebellofaciodental Syndrome |
|
Pes planus, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Delayed s... |
OMIM:616202 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Frontal bossing, Toe syndactyly, Telangiectasia of the skin, Wide mouth, Joint... |
ORPHA:60040 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High pala... |
OMIM:268300 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology |
ORPHA:70472 |
Schizophrenia 1 |
|
Syndactyly, Flat occiput, Frontal bossing, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Splenomegaly, Lymphadenopathy, Stomatitis, Pleural effusion |
OMIM:613011 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Brachycephaly, Talip... |
OMIM:619859 |
Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Accelerated skeletal maturation, Distal ... |
OMIM:602535 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Coxa valga, Short tubular b... |
ORPHA:85184 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Delayed skeletal maturation... |
OMIM:613823 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Brachycephaly, Cortical thickening of long bone diaphyses, Wid... |
ORPHA:309282 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram... |
ORPHA:783 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ... |
OMIM:208230 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Flat occiput, Femoral hernia, Protruding tongue, Brachycep... |
ORPHA:96147 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia |
OMIM:619981 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Aortic regurgitation, Pes planus, Sandal gap, Tapered finger, Secundum atrial sept... |
OMIM:620072 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, At... |
OMIM:611134 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Arachnodactyly, Joint h... |
ORPHA:2462 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Thin upper lip vermilion, Prominent metopic ridge, Skeletal muscle atrophy, Polyhydramnios, Incre... |
OMIM:618862 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Pes planus, Dental crowding, Ventricular septal defect... |
OMIM:619312 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Brachycephaly, Downturned cor... |
ORPHA:79500 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Micrognathia, Joint stiffness, Bone pain, Brachycephaly, Wide mo... |
ORPHA:2062 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Oligohydramnios |
OMIM:615397 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Proximal placement of thumb, Tapered finger, Micrognathia, Cong... |
ORPHA:251071 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Macrodo... |
ORPHA:2916 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Deep palmar crease, H... |
ORPHA:1675 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Ad... |
OMIM:615873 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Plantar edema, Abnormality of the e... |
ORPHA:2988 |
Hartsfield Syndrome |
|
Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Patellar aplasia, Tented phi... |
ORPHA:495818 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Pontocerebellar Hypoplasia, Type 3 |
|
High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum |
OMIM:608027 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Trigonocephaly, Tapered finger, Flat acetabular roof, A... |
OMIM:617159 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Metaphyseal widening, Irregul... |
OMIM:612813 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th... |
OMIM:620113 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Postaxial hand polydactyly, Non-midline cleft lip,... |
ORPHA:2075 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ... |
OMIM:603194 |
Acalvaria |
|
Omphalocele, Talipes, Postaxial hand polydactyly, Cleft palate, Calvarial skull defect |
ORPHA:945 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Abnormal hea... |
ORPHA:1708 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Mandibular prognathia, Ventricular septal defect, Coxa valga, Taper... |
OMIM:301040 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Pes planus, Genu recurvatum, Facial hypotonia, Brachycephaly... |
ORPHA:364028 |
Mend Syndrome |
|
Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly,... |
OMIM:300960 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... |
OMIM:617604 |
Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar dev... |
ORPHA:949 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-mi... |
ORPHA:245 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum... |
ORPHA:96184 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Pyloric stenosis, ... |
ORPHA:261197 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Pes planus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis... |
ORPHA:3473 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Frontal open bite, Delayed closure of the anterior fon... |
OMIM:225410 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent sinusitis, Pulmonary arterial hypertension, Midface retrusio... |
ORPHA:85202 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentitio... |
ORPHA:1786 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Es... |
OMIM:164280 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno... |
ORPHA:2092 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Non-midline cleft lip, Cleft palate, Tooth agenesis, Joint hy... |
ORPHA:1252 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... |
OMIM:614294 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Frontal bossing, Portal hypertension, Dolichocephaly, Hypersplenism, Hepatosplenomegaly, Prominen... |
ORPHA:228426 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the... |
ORPHA:313855 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Atrial septal defect, Reduced subcutaneous adipose tissue, Dental crowding... |
ORPHA:769 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... |
OMIM:609192 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Dolichocephaly, Cleft lip, Deep philtrum, Cl... |
OMIM:618571 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, C... |
ORPHA:96129 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven... |
ORPHA:99646 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve... |
OMIM:618505 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Abnormal foot morphology, Flexion contracture, Hip dislo... |
OMIM:614678 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P... |
OMIM:180849 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Delayed skeletal maturation, Brachycephaly, Shor... |
ORPHA:264200 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis |
ORPHA:1338 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Single transverse palmar crease, Proximal place... |
OMIM:618619 |
Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral density, Aplastic cl... |
OMIM:265800 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Truncus a... |
OMIM:617516 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Inguinal hernia, Metaphyseal spur... |
OMIM:618188 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Lymphadenopathy |
ORPHA:411703 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphy... |
OMIM:300863 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Frontal bossing, Facial palsy, Sclerotic scapulae, 2-3 finger ... |
OMIM:269500 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Protruding tongue, Secundum atrial septal defect, Congestive heart failu... |
OMIM:608779 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Absent radius, Preaxial h... |
ORPHA:233 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, D... |
ORPHA:2209 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, High palate, Skull asymmetr... |
OMIM:601853 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High pala... |
OMIM:309590 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Ventricular sep... |
ORPHA:488632 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Osteoporosis, Hepatosplenomegaly,... |
OMIM:619487 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Mandibular prognathia, Decreased muscle mass, Dental crowding, Arachnodactyly, Recurren... |
ORPHA:3063 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Mal... |
OMIM:618874 |
Hurler Syndrome |
|
Frontal bossing, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Abnor... |
ORPHA:93473 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... |
ORPHA:96170 |
Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Pes planus, Single transverse palmar... |
OMIM:619297 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Brachyceph... |
OMIM:265380 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal matu... |
OMIM:312870 |
Rahman Syndrome |
|
Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly |
OMIM:617537 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Abnormal sma... |
ORPHA:90362 |
Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Joint stiffness, Flexion contrac... |
ORPHA:115 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, P... |
OMIM:135900 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial... |
OMIM:612562 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Cleft palate, Sho... |
OMIM:614749 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... |
OMIM:119600 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c... |
OMIM:148050 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dental crowding, Brachycephaly, Hypomimic face |
ORPHA:320385 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S... |
OMIM:263750 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove... |
OMIM:616738 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Polyhydramnios, ... |
OMIM:609465 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... |
OMIM:618469 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... |
ORPHA:50945 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening, Posterior plagiocephaly... |
ORPHA:96190 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac... |
OMIM:130070 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, G... |
ORPHA:561 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Lymphadenopathy, Hypertension, Peripheral edema, Pleural effusion |
ORPHA:79126 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Foot joint contractu... |
ORPHA:444072 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Sh... |
OMIM:614524 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... |
OMIM:134780 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Wide mou... |
OMIM:614501 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou... |
OMIM:211380 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro... |
ORPHA:261112 |
Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger ... |
OMIM:614378 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... |
OMIM:612776 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Brachycephaly |
ORPHA:1173 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia o... |
OMIM:106260 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo... |
ORPHA:3253 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Narrow palate, Multiple ... |
ORPHA:207 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Downturne... |
OMIM:618652 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downturned corners of mouth, Deep philtrum, Brachycephaly |
OMIM:618859 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Dental crowding, Brachycephaly, Hypomimic face |
OMIM:615031 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Bilateral single transverse palmar... |
ORPHA:3380 |
Galloway-Mowat Syndrome 1 |
|
Midface retrusion, Flat occiput, Hiatus hernia, Micrognathia, Wide mouth, High palate, Talipes eq... |
OMIM:251300 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, E... |
OMIM:212065 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Abnormal foot morphology |
ORPHA:64754 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Joint stiffness, Abnormality ... |
ORPHA:1005 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Splenomegaly, Abnormal metaphysis morphology, Ventricular septal defect |
ORPHA:290 |
Joubert Syndrome 37 |
|
Frontal bossing, Prominent metopic ridge, Postaxial polydactyly, High palate, Joint hypermobility |
OMIM:619185 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia |
OMIM:119580 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
H Syndrome |
|
Hallux valgus, Pes planus, Lipodystrophy, Recurrent fractures, Cleft upper lip, Malabsorption, De... |
ORPHA:168569 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ... |
OMIM:164200 |
Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Pes val... |
OMIM:619131 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High pal... |
ORPHA:480880 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Frontal bossing, Congenital d... |
ORPHA:1001 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Joint laxity, Overlapping toe, Rocker bottom f... |
ORPHA:488642 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Brachycephaly, Flat occiput, Bradycardia |
ORPHA:2898 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... |
OMIM:601356 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar c... |
ORPHA:404448 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Accelerated skel... |
ORPHA:77301 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Dental malocclusion, Wide mouth, Slender long bon... |
OMIM:612731 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Micrognathia, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:255995 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:264470 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned... |
ORPHA:352665 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Micrognathia, Osteoarthritis, Generalized joint laxity, Knee dislocation, Shoulder di... |
OMIM:618000 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, P... |
OMIM:617616 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Hypermobili... |
ORPHA:508498 |
Pelviscapular Dysplasia |
|
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia,... |
ORPHA:93333 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Frontal bossing, Pes planus, Exaggerated cupid's bow, Single transverse palmar crea... |
OMIM:620098 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cleft lip, Dys... |
ORPHA:1724 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of... |
ORPHA:261337 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Ventricular septal defect, Joint stiffness, Splenomegaly, Cleft palate, Reduce... |
OMIM:620210 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Transposition of the grea... |
OMIM:231060 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated... |
ORPHA:2729 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Atrial septal defect, Polyhydramnios, Hip dislocation, High palate, Limb undergrowth,... |
OMIM:618005 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... |
ORPHA:1553 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula,... |
OMIM:610168 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... |
OMIM:616580 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/... |
ORPHA:1647 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Absent thumb, Unilateral r... |
OMIM:614900 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Absent radius, ... |
OMIM:115470 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Talip... |
ORPHA:818 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial ... |
ORPHA:453499 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypoplastic spleen,... |
OMIM:602361 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,... |
ORPHA:261236 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Bifid uvula, Arachnodactyly, Abnormal anatomic location of... |
ORPHA:2461 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Camptodactyly of finger, Missing ribs, Duodenal stenosis, A... |
ORPHA:1759 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly, Downturned... |
ORPHA:1299 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga,... |
OMIM:231050 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, H... |
OMIM:620369 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Wide mouth, High pal... |
OMIM:618580 |
Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, ... |
ORPHA:781 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anal atresia |
ORPHA:93950 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Pes planus, Ventricu... |
ORPHA:163979 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi... |
OMIM:616263 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Pes planus, Coxa valga, Accelerated skeletal maturation, Flared ... |
ORPHA:370930 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Delayed skeletal maturation, Tooth a... |
ORPHA:2645 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Tricuspid regurgitation, Joint hypermobility, Lo... |
OMIM:261990 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Postaxia... |
OMIM:249000 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Atrial septal defect, Micrognathia, Lower lip pit, Hip dislocation, De... |
OMIM:300867 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Edema, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly... |
OMIM:266920 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones... |
OMIM:610442 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Po... |
OMIM:187600 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly |
OMIM:300699 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thumb, Atrial septal de... |
OMIM:105650 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Hypoplasi... |
OMIM:609460 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ano... |
ORPHA:2311 |
Penoscrotal Transposition |
|
Micrognathia, Patellar aplasia, Prominent occiput, Cardiomyopathy, Clinodactyly of the 5th finger... |
ORPHA:2842 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ... |
ORPHA:522077 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Delayed skeletal maturation, Thick lower lip ... |
OMIM:612946 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Micrognathia, High, narrow palate, Genera... |
OMIM:619472 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Facial hypotonia, Abnormality of the dentition, Micrognathia, Long fin... |
OMIM:617557 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mou... |
ORPHA:398156 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypopla... |
ORPHA:1101 |
Noonan Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Micrognathia, Increased nuchal t... |
OMIM:605275 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex... |
ORPHA:2920 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Mesomelia, Broad thumb, Brach... |
ORPHA:171866 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Edema, Polyhydramni... |
OMIM:607143 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Polyhydramnios, Delayed ske... |
OMIM:617809 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Phocomeli... |
ORPHA:2538 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Pes planus, Ventricular septal defect, Micrognath... |
OMIM:300712 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... |
OMIM:617527 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Postaxial hand polydactyly, Everted lower lip vermilion, Long philtrum... |
ORPHA:75389 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Positional foot deformity, High palate, Widely spaced teeth, Atrial septal... |
OMIM:610443 |
King-Denborough Syndrome |
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Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Deep philtrum, Scaphocepha... |
OMIM:619542 |
Mend Syndrome |
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Overlapping toe, Broad hallux, Asymmetry of the mouth, Micrognathia, Long fingers, 2-3 toe syndac... |
ORPHA:401973 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
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Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Pseudotrisomy 13 Syndrome |
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11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete... |
OMIM:264480 |
Ring Chromosome 12 Syndrome |
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Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, S... |
ORPHA:1439 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... |
OMIM:300967 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Bicuspid aortic valve, Brachycephaly, Orofacial cleft, High palate, Atrial septal defect, Clinoda... |
OMIM:607872 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Thin upper lip vermilion, Frontal bossing, Ventricular septal defect, Plagiocephaly, Oligodontia,... |
OMIM:618330 |
Trisomy 12P |
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Turricephaly, Micrognathia, Delayed skeletal maturation, Cleft palate, Downturned corners of mout... |
ORPHA:1699 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Kne... |
ORPHA:85201 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Ret... |
ORPHA:73246 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Coffin-Siris Syndrome 4 |
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Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Midface retrusion, Single transverse palmar... |
OMIM:607932 |
Multifocal Atrial Tachycardia |
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Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
1P36 Deletion Syndrome |
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Abnormality of the spleen, Brachycephaly, Clinodactyly of the 5th finger, Abnormality of the anus... |
ORPHA:1606 |
Feingold Syndrome |
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Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Abnormality of the spleen, Devia... |
ORPHA:1305 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage... |
OMIM:314390 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
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Thin upper lip vermilion, Frontal bossing, Tapered finger, Short thumb, Brachycephaly, Downturned... |
OMIM:616728 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Congenital foot contractures, Ankle clonus, Bradycardia, Prominent calcaneus, Open mouth, Limb hy... |
ORPHA:565624 |
Joubert Syndrome 16 |
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Polydactyly |
OMIM:614465 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventricular septal defect, Single transverse palmar crease, Talipes, Flexion contracture, Limb un... |
ORPHA:79243 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Mesomelic Dysplasia, Savarirayan Type |
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Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... |
OMIM:605274 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly |
OMIM:609033 |
8P Inverted Duplication/Deletion Syndrome |
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Small hypothenar eminence, Dextrocardia, Micrognathia, Long fingers, High, narrow palate, Hip dis... |
ORPHA:96092 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ... |
OMIM:175500 |
Monosomy 22 |
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Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Hepatospleno... |
ORPHA:96123 |
Johnson Neuroectodermal Syndrome |
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Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted l... |
ORPHA:2316 |
Delpire-Mcneill Syndrome |
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Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula |
OMIM:619083 |
Orofaciodigital Syndrome Type 3 |
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Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
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Arachnodactyly, High palate, Camptodactyly, Camptodactyly of toe, Broad femoral metaphyses |
OMIM:610474 |
Trochlea Of The Humerus, Aplasia Of |
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Short humerus, Cleft palate |
OMIM:191000 |
Ivic Syndrome |
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Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongue, Mic... |
OMIM:615948 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Turricephaly, Telangiectasia of the skin, Camptodactyly of finger, Premature l... |
ORPHA:2907 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Frontal bossing, Sandal gap, Ventr... |
OMIM:620330 |
Cole-Carpenter Syndrome |
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Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric... |
ORPHA:2050 |
Frontorhiny |
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Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... |
ORPHA:391474 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Brachycephaly, Femoral bowing, Anteriorly placed anus, Cloverleaf skull, Arachnodactyly, Ulnar bo... |
OMIM:201750 |
Phelan-Mcdermid Syndrome |
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Ventricular septal defect, Palpebral edema, Micrognathia, Lymphedema, Dolichocephaly, Dental malo... |
OMIM:606232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
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Mandibular prognathia, Pes planus, Single transverse palmar crease, Joint hypermobility, Tapered ... |
OMIM:617804 |
Neu-Laxova Syndrome 2 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Polyhydramnios, Cleft... |
OMIM:616038 |
Ventricular Septal Defect 1 |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Opsismodysplasia |
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Frontal bossing, Short metacarpal, Rhizomelia, Edema, Polyhydramnios, Hypoplasia of the odontoid ... |
OMIM:258480 |
Wiedemann-Rautenstrauch Syndrome |
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Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corne... |
OMIM:264090 |
Generalized Arterial Calcification Of Infancy |
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Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,... |
ORPHA:51608 |
Atrial Septal Defect, Ostium Secundum Type |
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Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Noonan Syndrome With Multiple Lentigines |
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Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Pili Torti-Onychodysplasia Syndrome |
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Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar keratoderma, Keloids |
ORPHA:2890 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Polyhydramnios, Micrognathia, Pericardial effusion, Hematochezia, Anasarca, Protein-losing entero... |
OMIM:618183 |
Fixed Subaortic Stenosis |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Vacterl/Vater Association |
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Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Polyhydramnios, Preaxial hand po... |
ORPHA:887 |
Gaucher Disease Type 3 |
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Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Peri... |
ORPHA:77261 |
Desanto-Shinawi Syndrome |
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Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion |
OMIM:616708 |
Joubert Syndrome 40 |
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Postaxial polydactyly |
OMIM:619582 |
Feingold Syndrome Type 1 |
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Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n... |
ORPHA:391641 |
Okur-Chung Neurodevelopmental Syndrome |
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Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar crease, Polyhyd... |
OMIM:617062 |
Pontocerebellar Hypoplasia, Type 8 |
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Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Arthrogryposis multiplex ... |
OMIM:614961 |
Rothmund-Thomson Syndrome Type 2 |
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Joint dislocation, Osteopenia, Facial edema, Patellar hypoplasia, High palate, Microdontia, Short... |
ORPHA:221016 |
Meckel Syndrome, Type 9 |
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Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Prune Belly Syndrome |
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Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Aplasia of the abd... |
ORPHA:2970 |
Orofaciodigital Syndrome Type 14 |
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Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
Williams-Beuren Region Duplication Syndrome |
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Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum |
OMIM:609757 |
Hypomandibular Faciocranial Dysostosis |
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Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt... |
OMIM:241310 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Degcags Syndrome |
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Osteopenia, Polyhydramnios, Micrognathia, High palate, Atrial septal defect, Diaphragmatic eventr... |
OMIM:619488 |
Musculocontractural Ehlers-Danlos Syndrome |
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Decreased muscle mass, Decreased palmar creases, Generalized joint laxity, High palate, Microretr... |
ORPHA:2953 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Turricephaly, Arachnodactyly, Polyhydramnios, Micrognathia, Type 1 muscle fib... |
OMIM:619036 |
Auriculocondylar Syndrome 1 |
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Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
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Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa... |
ORPHA:3224 |
Enlarged Parietal Foramina |
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Craniosynostosis, Parietal foramina, Cleft lip, Cleft palate, Short clavicles, Broad thumb |
ORPHA:60015 |
Khan-Khan-Katsanis Syndrome |
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Frontal bossing, Tricuspid regurgitation, Tented upper lip vermilion, Postaxial polydactyly, Dela... |
OMIM:618460 |
Neonatal Marfan Syndrome |
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Long toe, Tricuspid regurgitation, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers, High,... |
ORPHA:284979 |
Congenital Myopathy 17 |
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Mandibular prognathia, Diaphragmatic eventration, Tented upper lip vermilion, Overlapping toe, Po... |
OMIM:618975 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Aica-Ribosuria Due To Atic Deficiency |
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Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Secundum atrial septal defect... |
OMIM:608688 |
Hand-Foot-Genital Syndrome |
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Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Brachycephaly, ... |
ORPHA:2211 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High palate, Atrial septal defect, Bi... |
OMIM:613795 |
Rapp-Hodgkin Syndrome |
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Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Retrognathia, Double inlet left ventricle, Thin vermilion border, High palate, Polyda... |
OMIM:619869 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Splenomegaly, P... |
OMIM:617088 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, Craniosynos... |
ORPHA:1521 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft lip, Clinodactyly, Osteoporosis, Cleft palate |
OMIM:614838 |
Lig4 Syndrome |
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Plantar warts, Brachycephaly, Telangiectasia, Clinodactyly of the 5th finger, Chronic sinusitis |
OMIM:606593 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Sho... |
ORPHA:56305 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Mandibular prognathia, Syndactyly, Clinodactyly, Limb hypertonia |
OMIM:618087 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Patent foramen ovale, Trach... |
ORPHA:444077 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Thin long bone diaphyses, Recurrent fractures... |
OMIM:616507 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Raynaud p... |
ORPHA:1855 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... |
ORPHA:89936 |
Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Gingival overgrowth, Hypoplastic ve... |
OMIM:230600 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microgn... |
ORPHA:3047 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f... |
OMIM:617403 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Frontal bossing, Overlapping toe, Single transverse pa... |
OMIM:613884 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... |
ORPHA:284160 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, ... |
ORPHA:2409 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m... |
OMIM:619950 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Flexion contracture, Brachycephaly, Clinodactyly of the 4th toe, Clinodactyly of... |
OMIM:614225 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Polyhydramnios, Scaphoc... |
OMIM:616777 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl... |
OMIM:618021 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... |
ORPHA:1300 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, ... |
OMIM:100300 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial septal defect, ... |
ORPHA:466791 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Open mouth, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Agnathia-Otocephaly Complex |
|
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Tracheomalac... |
OMIM:202650 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ... |
ORPHA:861 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Facial hypotonia, Trigo... |
ORPHA:97297 |
White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Ventral hernia, Inguinal hernia, Facial hypotonia, Congen... |
ORPHA:468678 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Micr... |
ORPHA:994 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4th met... |
OMIM:619638 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ... |
OMIM:302960 |
Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Micrognathia, Lymphedema, Abnormality of the spleen, Delayed... |
ORPHA:648 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... |
OMIM:615779 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Lymphangioma |
OMIM:149000 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Brachycephaly, Na... |
OMIM:618644 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Knee dislocation, High ... |
OMIM:620083 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
ORPHA:177907 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Osteopenia, Frontal bossing, Proximal placement of th... |
OMIM:615789 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, Micrognathia, Delayed skelet... |
OMIM:613457 |
Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Tongue atrophy, Distal amyotrophy, Proximal amyotrophy |
OMIM:254300 |
Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology, Syncope |
ORPHA:97230 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Tracheomalacia, Micrognathia, Cleft palate, Glossoptosis, Clinodactyly... |
ORPHA:1393 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad... |
ORPHA:1942 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Tapered finger, Short toe, Orofacial cleft, Joint hyperflexibility, Abno... |
ORPHA:127 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Inguinal hernia, Arachnodactyly, Con... |
OMIM:208050 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Flexion contracture, Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia |
ORPHA:500055 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hematemesis, Pericardial effusion, Spleno... |
OMIM:615846 |
Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Ec... |
OMIM:217100 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Oligohydramnios, Dehydration, Talipes calcaneovalgus, Hi... |
OMIM:208085 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... |
OMIM:615879 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Abnormal mitral valve morphology, Short hard palate, ... |
ORPHA:1969 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost... |
ORPHA:228390 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Syndactyly |
OMIM:615631 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Mitral valve prolapse, Umbilical hernia, High palate, Cub... |
OMIM:104350 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cl... |
OMIM:243605 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ... |
ORPHA:2058 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... |
OMIM:105830 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... |
OMIM:613805 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... |
OMIM:614653 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Dental crowding, Polyhydramnios, Rectal prolapse, Short metata... |
OMIM:617157 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Cervical C2/C... |
OMIM:214300 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Facial edema, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, ... |
ORPHA:221008 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Polyhydramnios, Microg... |
OMIM:216340 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Delayed skeletal maturation, Dental malocclusion, Wide... |
OMIM:610733 |
Distal Deletion 6P |
|
Atrial septal defect, Abnormality of the dentition, Micrognathia, Orofacial cleft, Short foot, Do... |
ORPHA:96125 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... |
OMIM:618454 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd... |
OMIM:300990 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... |
OMIM:617952 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Chédiak-Higashi Syndrome |
|
Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Period... |
ORPHA:167 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu... |
ORPHA:268249 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the gr... |
OMIM:306955 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, S... |
ORPHA:101085 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Periorb... |
OMIM:613177 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Ventricular septal defect, M... |
ORPHA:464306 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa... |
ORPHA:280633 |
Xq28 (MECP2) duplication |
|
Malar flattening, Brachycephaly, Narrow mouth |
DECIPHER:45 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar hypoplasia... |
OMIM:161200 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Atrial septal defect, Cli... |
ORPHA:459070 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum... |
OMIM:616268 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Zellweger Syndrome |
|
Flat occiput, Ventricular septal defect, Malabsorption, Micrognathia, Pyloric stenosis, Abnormali... |
ORPHA:912 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Micrognathia, Polyhydramnios, Dilated ... |
OMIM:607598 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Pes planus, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Scap... |
OMIM:616901 |
Mgat2-Cdg |
|
Osteopenia, Dental crowding, Ventricular septal defect, Dolichocephaly, Hydrops fetalis, Abnormal... |
ORPHA:79329 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Dental crowding, Bicuspid aortic valve,... |
OMIM:130720 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Abnormal hemidiaphragm morphology, Micrognathia, Secundum atrial septal defect, Cle... |
ORPHA:2257 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Short toe, Trigono... |
ORPHA:2308 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red... |
ORPHA:740 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, ... |
OMIM:619727 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... |
ORPHA:261190 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Talipes, Micrognath... |
ORPHA:564 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Limb Body Wall Complex |
|
Ventral hernia, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia... |
ORPHA:2369 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Thin upper lip vermilion, Decreased muscle mass, Polyhydramnios, Dolichoc... |
OMIM:176270 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
3Mc Syndrome 3 |
|
Diastasis recti, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clin... |
OMIM:248340 |
X-Linked Intellectual Disability, Nascimento Type |
|
Pes cavus, Overlapping toe, Ventricular septal defect, Lower extremity joint dislocation, Deep ph... |
ORPHA:163956 |
Culler-Jones Syndrome |
|
Cleft palate, Midface retrusion, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... |
OMIM:261540 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Inguinal hernia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral v... |
OMIM:617107 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Femoral bowing, Stillbirth, Aortic valve st... |
OMIM:615415 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, High, narrow palate, Cleft palate, Narrow palate, High... |
OMIM:615102 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... |
ORPHA:3426 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Torticollis, Delayed skeletal maturation, Absent phalangeal crease, Re... |
OMIM:611929 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale, Hypoplasia of the rad... |
OMIM:609053 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Hip dysplasia |
ORPHA:494344 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
9q subtelomeric deletion syndrome |
|
Abnormal heart morphology, Midface retrusion, Protruding tongue |
DECIPHER:52 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hypoplastic ischia, Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyl... |
OMIM:210730 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Single transverse palmar crease, Facial hypotonia, Protruding t... |
OMIM:618106 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Turricephaly, Iliac crest serration, Accelerated skeletal maturation, Metaphyse... |
ORPHA:93317 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Micro... |
OMIM:236680 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Atrial septal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Atrial septal ... |
ORPHA:353277 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Frontal bossing, Ventricular septal defect, Micrognathia, Cleft lip, Furrowed tongue,... |
OMIM:616975 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Abnormality of the dentition, Generalized joint laxity, Delayed skeletal maturation, ... |
ORPHA:432 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycep... |
OMIM:618971 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Short ribs, Atrial septal defect, Pulmonar... |
ORPHA:2519 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Thickened calvaria |
OMIM:126550 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Splenomegaly, Anomalous pulmonary venous return, ... |
OMIM:616368 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Anal stenosis, Frontal bossing, Congenital diaphragmatic hernia, Micrognath... |
OMIM:614080 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgi... |
OMIM:615355 |
Lambert Syndrome |
|
Wide mouth, Malar flattening, Inguinal hernia, Ventricular septal defect |
ORPHA:1296 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Omphalocele, Flexion contracture, Cleft palate, Tali... |
OMIM:619124 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Sho... |
OMIM:245150 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Atrial septal defect, Dextrocardia, Tracheoesophageal fistula, High pal... |
OMIM:277380 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Polyhydramnio... |
OMIM:616503 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
3Mc Syndrome 2 |
|
Torticollis, Prominence of the premaxilla, Diastasis recti, Limited elbow movement, Cleft upper l... |
OMIM:265050 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Recurrent fractures, Renovascular hypertension, Increased susc... |
OMIM:602531 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Tooth malposition, Upper limb unde... |
ORPHA:529962 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Ventricular septal defect, Hypoplasia of the maxilla, Abnormal os... |
ORPHA:79345 |
Mosaic Trisomy 8 |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Patellar aplasia, Limitation of joint mob... |
ORPHA:96061 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned... |
OMIM:194190 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Mitral valve prol... |
OMIM:620233 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Flexion co... |
OMIM:619479 |
Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Brachycephaly |
ORPHA:349 |
Jacobsen Syndrome |
|
Atrial septal defect, Flat occiput, Ventricular septal defect, Trigonocephaly, Micrognathia, Miss... |
OMIM:147791 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys... |
OMIM:616462 |
Kid Syndrome |
|
Angular cheilitis, Lip fissure, Coxa valga, Equinus calcaneus, Abnormality of the dentition, Scar... |
ORPHA:477 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb |
ORPHA:139471 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Diaphragmatic eventration, Ventricular septal defect, Polyhy... |
OMIM:620025 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Polyhydramnios, ... |
OMIM:619841 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, K... |
ORPHA:2020 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, ... |
ORPHA:83617 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Cleft soft palat... |
ORPHA:268261 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Cleft palate, Genu valgum |
OMIM:614880 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Oste... |
ORPHA:284984 |
Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Increased nuchal translucency, Mitral valve prol... |
OMIM:616564 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... |
ORPHA:89842 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Glossoptosis, Biparietal narrowing |
ORPHA:2031 |
Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly |
OMIM:236400 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Brachycephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, P... |
OMIM:613603 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Diabetic Embryopathy |
|
Frontal bossing, Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1926 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar crease, Facial pals... |
OMIM:620186 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Mitral valve prolapse, Femoral bowing, Increased susceptibility ... |
OMIM:166200 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Cor triatriatum, Single transverse palmar crease, Perianal abscess, Secundum atr... |
OMIM:612541 |
Desmosterolosis |
|
Frontal bossing, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth,... |
OMIM:602398 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Split hand, Clubbing, Cleft palate, Tetralogy of Fallot |
OMIM:600460 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Frontal bossing, Abnormal acetabulum morphology, Postaxial polyd... |
ORPHA:397715 |
Tukel Syndrome |
|
Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P... |
OMIM:609428 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, High, narrow palate, Cong... |
OMIM:208150 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of... |
OMIM:601707 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Long foot, Coxa valga, Hypoplastic iliac wing, Long fingers, Accelerate... |
OMIM:617561 |
Zttk Syndrome |
|
Aortic regurgitation, Frontal bossing, Midface retrusion, Ventricular septal defect, Craniosynost... |
OMIM:617140 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, Abnormality of the l... |
ORPHA:1556 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:609220 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Dilated cardiomyopathy, Tooth malposition, Limb undergrowth, Clinodactyly, Pes c... |
OMIM:616541 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Cleft palate, Anteriorly placed anus, Cardiomyopathy, Abnorm... |
ORPHA:3338 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou... |
ORPHA:280 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi... |
ORPHA:2072 |
Holoprosencephaly |
|
Flat occiput, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Bilatera... |
ORPHA:2162 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia, High palate |
OMIM:614520 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial sep... |
OMIM:617478 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Cleft palate, Hernia, Trigonocephaly, Midface ... |
ORPHA:1642 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, In... |
OMIM:619534 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Hiatus hernia, Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Generalized a... |
OMIM:601162 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephaly, Wide mouth, Tracheomalacia |
OMIM:618797 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Frontal bossing, Palpebral edema, Congestive heart fail... |
OMIM:181270 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d... |
ORPHA:363700 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Short philtrum, Hypoplasia of the thymus, Atrial septal defect, Ara... |
ORPHA:567 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, D... |
ORPHA:2789 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diap... |
OMIM:157800 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Retrognathia, Cone-shaped epiphyses of the phalanges of the hand, Delayed ... |
OMIM:619269 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, R... |
OMIM:301030 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Esophageal atresia, Tracheoesophageal fistula, Bilateral... |
OMIM:300514 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Th... |
ORPHA:2785 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul... |
ORPHA:70591 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca... |
ORPHA:261537 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora... |
OMIM:602080 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Micrognathia, Dilated... |
OMIM:614921 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, M... |
ORPHA:140936 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Reduced bone mineral density, Wide mouth, Pulmonic stenosis, Atrial se... |
OMIM:615279 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Flexion contracture of finger, Osteomyelitis, Camptodactyly |
ORPHA:88628 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa... |
OMIM:150230 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly |
OMIM:309541 |
Duplication Of The Pituitary Gland |
|
Abnormality of joint mobility, Polyhydramnios, Supernumerary tooth, Abnormality of masseter muscl... |
ORPHA:314621 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... |
OMIM:601358 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Overlapping toe, Palpebral edema, Protruding tongue,... |
ORPHA:99843 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Syndactyly, Smooth philtrum, Long philtrum |
OMIM:616430 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Atrial septal defect, Accessory spleen, Frontal bossing, Delayed cranial suture... |
OMIM:620005 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Malar flattening, Long foot, Advanced ossification of carpal bones |
OMIM:616831 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence... |
ORPHA:263508 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Pmm2-Cdg |
|
Mandibular prognathia, Osteopenia, Multiple joint contractures, Lymphedema, Intracranial hemorrha... |
ORPHA:79318 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Single transverse pal... |
OMIM:614947 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca... |
ORPHA:2152 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Osteoporosis, Hypertension, Lower limb hypertonia, Clinodactyly |
ORPHA:2169 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Skeletal muscle atrophy, Brachycephaly, Wide m... |
OMIM:103050 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Bone pain, Loss ... |
OMIM:256040 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Narrow mouth, Flexion contracture, Brachycephaly, Long philtrum |
OMIM:615663 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, High, narrow pal... |
ORPHA:2554 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Polyhydramnios, Hi... |
OMIM:218040 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... |
ORPHA:358 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Polyhydramnios, Brachycephaly, Plagiocephaly, Lower limb hypert... |
OMIM:617296 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca... |
ORPHA:261552 |
Charcot-Marie-Tooth Disease Type 4C |
|
Pes planus, Tongue atrophy, Weakness of facial musculature, Abnormal foot morphology, Hammertoe, ... |
ORPHA:99949 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Atrial septal defect, Frontal bossing, Rhabdomyosarco... |
ORPHA:1052 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position... |
ORPHA:363958 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Patent foramen ovale, Joint laxity, Facial palsy, Short thumb, Ridged ... |
OMIM:619325 |
Trichothiodystrophy |
|
Joint dislocation, Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventr... |
ORPHA:33364 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe... |
OMIM:200110 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flex... |
OMIM:259050 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess |
ORPHA:89937 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Lymphedema, High, narrow palate, Dental malocclusion, Cl... |
OMIM:163950 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger cli... |
ORPHA:306542 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f... |
OMIM:163200 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Ventricular septal defect, Del... |
ORPHA:1465 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion |
ORPHA:1791 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Plagiocephaly, Umbilical hernia, ... |
OMIM:617751 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Ap... |
ORPHA:2604 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... |
OMIM:619471 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... |
ORPHA:538 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Micrognathia, Hypoplasia of the premaxilla, ... |
ORPHA:2166 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Frontal bossing, Villous atrophy, Ventricular septal defect, Polyhydramnios... |
OMIM:222470 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Talipes, Abnormality of the hand, Velopharyngeal insu... |
OMIM:192430 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal dental enamel morphology, Prem... |
ORPHA:2908 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, H... |
OMIM:301091 |
Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Hernia, Midface retrusi... |
ORPHA:1394 |
Transaldolase Deficiency |
|
Ventricular septal defect, Splenomegaly, Deep philtrum, Telangiectasia, Wide mouth, Hepatosplenom... |
OMIM:606003 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Unilateral ... |
OMIM:617247 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Metatarsus adductus, Abnorm... |
ORPHA:513456 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Atria... |
OMIM:603467 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Atrial septal defect, Joint laxity, Broad hallux, Supernu... |
ORPHA:353281 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Micrognath... |
ORPHA:124 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... |
ORPHA:466768 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil... |
OMIM:619777 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Talipes calcaneovalgus, Hip dysplasia, Arthrogryposis multiplex congen... |
OMIM:613404 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... |
OMIM:606170 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High pal... |
ORPHA:3310 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central... |
OMIM:309580 |
Frontonasal Dysplasia 2 |
|
Craniosynostosis, Conical tooth, Parietal foramina, Calvarial skull defect, Brachycephaly, Widely... |
OMIM:613451 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec... |
OMIM:601927 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo... |
OMIM:613680 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Increase... |
OMIM:619769 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hypertension, Skeletal muscle atrophy |
ORPHA:110 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Mediastinal lymphadenopathy, Vasc... |
ORPHA:397 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Short philtrum,... |
OMIM:619244 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Single transverse palmar crease, Small hand, Osteoporosis, Intrinsic hand muscl... |
OMIM:615273 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Plagioce... |
OMIM:213300 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,... |
ORPHA:558 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Hypertension, Hip dysplasia, Gastric ulcer, Short phalanx of finger |
OMIM:208060 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Pes planus, Single transverse palmar crea... |
OMIM:223370 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Hand muscle weakness, Arefle... |
ORPHA:99956 |
Spondylo-Ocular Syndrome |
|
Pes planus, Facial hypotonia, Ventricular septal defect, Osteoporosis, Joint hyperflexibility, Th... |
ORPHA:85194 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Esophageal atresia, Hypoplasia... |
OMIM:192350 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f... |
OMIM:619539 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615108 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Broad hallux, Facial hypotonia, Postaxial polydactyly, ... |
ORPHA:457284 |
Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Ascites, Ol... |
OMIM:617667 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Abnormality of the tonsils, Malabsorption, Abnormality of the lymphatic... |
ORPHA:47 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ... |
ORPHA:3404 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Brachycephaly |
OMIM:616083 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narrow palate, Rec... |
OMIM:309800 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ... |
ORPHA:2745 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... |
OMIM:107480 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Osteopor... |
ORPHA:91347 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Polyh... |
ORPHA:464311 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Abnormality of the temporomandibular joint, Facial palsy, ... |
ORPHA:258 |
Bloom Syndrome |
|
Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Dolichocephaly, Clinodactyly... |
OMIM:210900 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Ventricular septal defect, Cardiomegaly, Micrognathia, Gingival overgrowth, Dehydra... |
ORPHA:96191 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615109 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard... |
OMIM:619103 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Mitral valve prolapse, Diaphyseal dysplasia, Multiple lipomas, Pol... |
ORPHA:137605 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Ventricular septal defect, Increased nuchal translucency, Wide mouth, Widely-spaced... |
OMIM:617635 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios... |
ORPHA:1199 |
Noonan Syndrome 3 |
|
Frontal bossing, Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Dolichocep... |
OMIM:609942 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Vent... |
OMIM:243150 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Han... |
OMIM:214800 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Calf muscle hy... |
OMIM:615673 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Periorbital... |
ORPHA:904 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal splee... |
ORPHA:85448 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Abnormal heart morph... |
ORPHA:93399 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Lymphadenopathy |
ORPHA:2221 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Exaggerated cupid's bow, Tapered finger, Dolichocephaly, Plagioceph... |
OMIM:619480 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Brachycephaly, Anteriorly placed ... |
OMIM:608980 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Scapular winging, Limited elbow movement, Missing rib... |
OMIM:151100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Jo... |
OMIM:617506 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... |
OMIM:208530 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Overlapping toe, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, H... |
OMIM:616682 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Short lower limbs, Bowing of the legs |
OMIM:219250 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Ectrodactyly, Hypo... |
OMIM:615465 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Abnormal finger mo... |
ORPHA:744 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Renal Agenesis |
|
Ventricular septal defect, Hypertension, Talipes equinovarus, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Stomatitis, Glossitis |
ORPHA:79284 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypopl... |
OMIM:601186 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Scarring, Abnormality of the gingiva, Thick lower lip vermilion,... |
ORPHA:530 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Craniosyn... |
ORPHA:60030 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complet... |
OMIM:227645 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Cheilitis, Lymphadenopathy, Furrowed tongue, Macroglossia |
ORPHA:2483 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Frontal bossing, Ventricular septal defect, Cleft uppe... |
OMIM:300000 |
Dpagt1-Cdg |
|
Prolonged QT interval, Arachnodactyly, Lipodystrophy, Flexion contracture, Osteoporosis, Intracra... |
ORPHA:86309 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Joint laxity, Inguinal hernia, Ventricular septal defect, Polyhydramnios, D... |
OMIM:607721 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Microretrognathia, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:158350 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal... |
ORPHA:1934 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Polyhydramnios, Situs inversus totalis, Narrow mouth, Mandibular aplasia, Microglossia |
ORPHA:990 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Single transverse palmar creas... |
OMIM:309801 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Frontal bossing, Right atrial enlargement |
OMIM:615219 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Ankle clonus, Tongue ... |
OMIM:211530 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Long philtrum, Trigonocephaly, Patent foramen ovale |
OMIM:619179 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... |
ORPHA:185 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Congestive heart failure, Myocarditis, Vasc... |
ORPHA:2331 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ... |
ORPHA:79408 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowding, Aplasia/Hy... |
OMIM:219000 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Syndactyly, Hydrops fetalis |
OMIM:224120 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Retrognathia, High palate, Cleft palate |
ORPHA:52055 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr... |
OMIM:617021 |
Plague |
|
Chapped lip, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Abnormality of the elb... |
ORPHA:707 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... |
ORPHA:978 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Furrowed tongue, Microdont... |
OMIM:148210 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal tricuspi... |
ORPHA:3405 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he... |
OMIM:618846 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Plagioc... |
OMIM:613355 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Synovitis, Tendonitis, Hypertension, Arthritis, Joint swel... |
OMIM:186580 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Micrognathia, Aganglionic megacolon, Malabsorption |
ORPHA:452 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Cl... |
OMIM:194050 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Pes cavus, Preaxial polydactyly |
ORPHA:163681 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mo... |
OMIM:617666 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Downturned corners of mouth, Hypoplastic v... |
ORPHA:3455 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... |
OMIM:119500 |
Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... |
ORPHA:3241 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,... |
OMIM:236700 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Ramos-Arroyo Syndrome |
|
Frontal bossing, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, A... |
ORPHA:1051 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly |
OMIM:612379 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke... |
ORPHA:157215 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Kabuki Syndrome 1 |
|
Joint dislocation, Atrial septal defect, Anal stenosis, Congenital hip dislocation, Ventricular s... |
OMIM:147920 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Recurrent patellar dislocation, 3-4 fi... |
OMIM:615877 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Limb hypertonia, Protruding tongue |
OMIM:619580 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microg... |
OMIM:613309 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Calvari... |
ORPHA:1923 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High... |
OMIM:619475 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Delayed skeletal maturation, Small hand, Short foot, ... |
ORPHA:488434 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Malar flattening |
OMIM:242860 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Wide mo... |
ORPHA:98794 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Increased overbite |
OMIM:618504 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... |
ORPHA:201 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephaly, Micrognathia, Clinodactyly of... |
ORPHA:1587 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, F... |
OMIM:619306 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Tape... |
OMIM:619522 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Joint stiffness, ... |
OMIM:618820 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Retrognathia, High palate, Bifid uvula |
OMIM:300472 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth |
ORPHA:411511 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Cleft pal... |
OMIM:301043 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, ... |
ORPHA:2052 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Hi... |
OMIM:619418 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept... |
OMIM:243800 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Pes planus, Fetal ascites, Micrognathia, Cleft palate,... |
OMIM:619376 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Pulmonic stenosis, Protruding tongue |
OMIM:614325 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog... |
ORPHA:254534 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Splenomegaly, Vasculitis, Brachycephaly, Lymphadenopathy, Anal atr... |
ORPHA:1572 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Melena, Corneal neovascularization |
OMIM:158310 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Mal... |
OMIM:229400 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... |
ORPHA:79282 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Kapur-Toriello Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation, Orofacial cleft |
ORPHA:2328 |
Dent Disease |
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Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
Odontoonychodermal Dysplasia |
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Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Laubry-Pezzi Syndrome |
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Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Bazex-Dupre-Christol Syndrome |
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Joint hypermobility, Furrowed tongue |
OMIM:301845 |
Spinocerebellar Ataxia 36 |
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Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Cardiac Valvular Dysplasia 1 |
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Inguinal hernia, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atr... |
OMIM:212093 |
Spinocerebellar Ataxia Type 36 |
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Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Generalized Pustular Psoriasis |
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Congestive heart failure, Cheilitis, Pedal edema, Arthritis, Geographic tongue |
ORPHA:247353 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Osteopenia, Delayed skeletal maturation, Polydactyly, Hypotension, Osteoporosis of vertebrae, Abn... |
ORPHA:95494 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def... |
OMIM:270100 |
Hereditary Mucoepithelial Dysplasia |
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Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Oligohydramnios |
OMIM:611812 |
Hardikar Syndrome |
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Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac... |
OMIM:301068 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98795 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Distal lower limb amyotrophy, Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, ... |
ORPHA:79396 |
Icf Syndrome |
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Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Aspartylglucosaminuria |
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Joint laxity, Delayed skeletal maturation, Thick lower lip vermilion, Hypoplastic frontal sinuses... |
OMIM:208400 |
Sotos Syndrome |
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Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Pedal edema, Atrial... |
ORPHA:821 |
Psoriasis 14, Pustular |
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Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Alzahrani-Kuwahara Syndrome |
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Frontal bossing, Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Narrow phil... |
OMIM:619268 |
Plummer-Vinson Syndrome |
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Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal st... |
ORPHA:97685 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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11 pairs of ribs, Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:77298 |
Craniofacial Microsomia 1 |
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Ventricular septal defect, Block vertebrae, Hypoplasia of facial musculature, Cleft upper lip, Mi... |
OMIM:164210 |
Noonan Syndrome 9 |
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Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Syndromic Diarrhea |
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Aortic regurgitation, Villous atrophy, Inguinal hernia, Bicuspid aortic valve, Gastritis, Ventric... |
ORPHA:84064 |
Holoprosencephaly 14 |
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Frontal bossing, Median cleft lip, Ventricular septal defect, Proboscis, Cleft lip, Aortic valve ... |
OMIM:619895 |
Meacham Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Microsporidiosis |
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Myositis, Osteomyelitis, Sinusitis, Abnormality of the spleen, Myocarditis, Lymphadenitis, Endoca... |
ORPHA:2552 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Frontal bossing, Ventricular septal defect, Atrial septal defect, Tetralo... |
OMIM:118450 |
Brain-Lung-Thyroid Syndrome |
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Ventricular septal defect, Abnormal cardiac septum morphology, Hypodontia, Atrial septal defect, ... |
ORPHA:209905 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Pes planus, Ventricular septal defect, High, narrow palate, Hematochezia, Short philtrum, Joint h... |
OMIM:619575 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Dee... |
ORPHA:438213 |
Angelman Syndrome |
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Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth, Pes valgus |
ORPHA:72 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
Multiple Endocrine Neoplasia Type 2 |
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Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphol... |
ORPHA:653 |
Aortic Valve Disease 1 |
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Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Digeorge Syndrome |
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Inguinal hernia, Ventricular septal defect, Femoral hernia, Micrognathia, High, narrow palate, Sp... |
OMIM:188400 |
Hartnup Disease |
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Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Congenital Tracheomalacia |
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Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial anomalous pu... |
ORPHA:95430 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Ventricular septal defect |
OMIM:618325 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Ventricular septal defect |
OMIM:619908 |
Pachyonychia Congenita 3 |
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Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma... |
OMIM:615726 |
Atrial Septal Defect 1 |
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Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Congenital diaph... |
ORPHA:2255 |
Leigh Syndrome |
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Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
Liver Disease, Severe Congenital |
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Joint laxity, Chronic gastritis, Inguinal hernia, Ventricular septal defect, Left atrial enlargem... |
OMIM:619991 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Proboscis, Abnormal paranasal sinus... |
ORPHA:141099 |
Cutis Laxa, Autosomal Dominant 1 |
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Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra... |
OMIM:123700 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Pes planus, Inguinal hernia, Ventricular septal defect, Micrognathia, Splenomegaly, Supernumerary... |
OMIM:619525 |
Acrodermatitis Enteropathica |
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Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Hereditary Folate Malabsorption |
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Skeletal muscle atrophy, Glossitis, Cheilitis |
ORPHA:90045 |
Transketolase Deficiency |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Frontal bossing, Ventricular septal defect, Missing ribs, Esophageal atresia, V... |
OMIM:206900 |
Encephalocraniocutaneous Lipomatosis |
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Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce... |
OMIM:613001 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Imerslund-Gräsbeck Syndrome |
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Tachycardia, Glossitis, Angular cheilitis |
ORPHA:35858 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Bilateral talipes equinovar... |
ORPHA:49 |
Bilateral Perisylvian Polymicrogyria |
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Micrognathia, Protruding tongue, Flexion contracture, Abnormality of masticatory muscle, Facial d... |
ORPHA:98889 |
Developmental And Epileptic Encephalopathy 31B |
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Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Ankyloglossia With Or Without Tooth Anomalies |
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Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Ventricular septal defect, Coronary artery fistula, Neonatal death, Metopic synostosis, Atrial se... |
OMIM:620024 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer... |
ORPHA:436252 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Su... |
OMIM:235730 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop... |
ORPHA:2388 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
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Ankyloglossia |
OMIM:619352 |
X-Linked Dystonia-Parkinsonism |
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Protruding tongue |
ORPHA:53351 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoeso... |
ORPHA:141127 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Steatorrhea, Stomatitis, Ascites, Glossitis,... |
ORPHA:97280 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... |
ORPHA:99125 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Carney Complex |
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Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Ca... |
ORPHA:1359 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Phace Association |
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Ventricular septal defect |
OMIM:606519 |