Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Delayed skeletal maturation, ... |
ORPHA:168621 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho... |
OMIM:118651 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Hypocholesterolemia, Erlenm... |
OMIM:610539 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor... |
ORPHA:93315 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... |
OMIM:156510 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... |
ORPHA:79106 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Camptodactyly, Retrognathia |
OMIM:604273 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Pes planus, Genu recurvatum, Talipes, Camptodactyly... |
ORPHA:915 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Short neck, Femoral bowing, Knee flexion contracture, Tibial bowin... |
OMIM:601559 |
Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... |
OMIM:606612 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Micrognathia, Elbow flexion contracture, Decreased ... |
OMIM:618156 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Malar prominence, Fused cervical vertebrae, Ab... |
ORPHA:2522 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Plantar pits, Hemivertebr... |
ORPHA:377 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Pes planus, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractur... |
OMIM:610967 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... |
OMIM:224120 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Ky... |
ORPHA:2916 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Short 5th finger, Sco... |
OMIM:615583 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Dental malocclusion, Scoliosis, Hypocholesterolemia |
OMIM:610883 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... |
OMIM:166300 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Atelosteogenesis Type Iii |
|
Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... |
OMIM:251230 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dent... |
OMIM:608940 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... |
OMIM:178110 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... |
OMIM:605274 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn... |
ORPHA:1988 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly |
ORPHA:1445 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma... |
OMIM:201000 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... |
OMIM:122600 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, ... |
ORPHA:439822 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Pes planus, Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit... |
OMIM:618000 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... |
OMIM:607143 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Delayed skeletal maturation, Genu valgum, Slender long bon... |
OMIM:608154 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Her... |
OMIM:601216 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Tapered finger, Micrognat... |
OMIM:216550 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Malar flattening, Hy... |
OMIM:266510 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg... |
ORPHA:90652 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... |
OMIM:616549 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphy... |
ORPHA:90653 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Increased bone mineral density, Wo... |
ORPHA:1798 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Short neck, Hypoplasia of the maxilla, Flexion contracture, ... |
ORPHA:96334 |
Alg12-Cdg |
|
Hyponatremia, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia... |
ORPHA:79324 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl... |
ORPHA:1452 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... |
ORPHA:1803 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pe... |
OMIM:123000 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Micrognathia, Short neck, Preaxial polydactyly, Hypoplastic p... |
OMIM:617925 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... |
OMIM:607634 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... |
OMIM:616834 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Abnormal circulating ... |
ORPHA:79277 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat... |
OMIM:222765 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... |
OMIM:620099 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, J... |
ORPHA:96169 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian... |
OMIM:130720 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Kyphoscoliosis, Acanthocyto... |
ORPHA:14 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the ve... |
OMIM:166600 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Plantar pits, Ir... |
OMIM:109400 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... |
ORPHA:397973 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... |
ORPHA:314795 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Micrognathia, Hypocholesterolemia |
OMIM:618810 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
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 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop... |
ORPHA:2662 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Talipes equinovarus, Short pa... |
ORPHA:85279 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy... |
ORPHA:2751 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex... |
ORPHA:776 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Deviation of f... |
ORPHA:2412 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hy... |
ORPHA:2097 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Impair... |
OMIM:250250 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abn... |
ORPHA:93262 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplasia... |
OMIM:139210 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnormal pel... |
OMIM:167320 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... |
ORPHA:1529 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... |
ORPHA:710 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pes planus, Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Sacral di... |
OMIM:213980 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:277440 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteom... |
OMIM:209950 |
Martsolf Syndrome 1 |
|
Joint laxity, Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathi... |
OMIM:212720 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m... |
ORPHA:1458 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... |
OMIM:259420 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:264700 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone ... |
ORPHA:93160 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Long foot |
OMIM:300676 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Kyphosis, Flexion contracture, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Hypochol... |
OMIM:212065 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Coxa valga... |
OMIM:614753 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... |
OMIM:206920 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Positional foot deformity, Hi... |
OMIM:610443 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ovoid vertebral bodies, Micrognathia, Metatarsus adductus, Carious te... |
OMIM:244450 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Short neck, Hypopl... |
OMIM:305400 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviat... |
OMIM:136760 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Hypoplasia... |
ORPHA:193 |
Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... |
OMIM:600002 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... |
OMIM:164900 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Aplastic anemia, Micrognathia, ... |
OMIM:223370 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, S... |
ORPHA:289176 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Neutro... |
OMIM:609053 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy... |
ORPHA:245 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the me... |
ORPHA:192 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Trismus, Hyperextensib... |
OMIM:227330 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Tracheoma... |
OMIM:601390 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... |
OMIM:252100 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Moebius Syndrome |
|
Syndactyly, Pes planus, Brachydactyly, Micrognathia, Short neck, Split hand, Abnormal pelvic gird... |
OMIM:157900 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe synda... |
ORPHA:373 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th... |
ORPHA:508498 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... |
ORPHA:233 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Broad hallux phalanx, Malar flattening, Broad thumb |
ORPHA:261295 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala... |
OMIM:109120 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu... |
OMIM:615546 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac... |
ORPHA:481152 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Splenomegaly, Flexion contracture, Hypopl... |
OMIM:608149 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Elevated 8-dehydrocholesterol, Ele... |
OMIM:302960 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Pseudoep... |
OMIM:194190 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... |
OMIM:257850 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost... |
ORPHA:289157 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Cu... |
OMIM:148050 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Thromboc... |
OMIM:620370 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... |
OMIM:607323 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... |
ORPHA:2462 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Splenomegaly... |
ORPHA:1133 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, R... |
OMIM:620157 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Arachnodactyly, Craniosynostosis, Microgna... |
OMIM:182212 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... |
ORPHA:178303 |
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 |
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 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin... |
ORPHA:50814 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... |
OMIM:259720 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Joint st... |
ORPHA:83 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... |
OMIM:271520 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... |
OMIM:166210 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Bifid distal p... |
ORPHA:97360 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Andersen-Tawil Syndrome |
|
Joint laxity, Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence o... |
ORPHA:37553 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Hip dislocation, Radiouln... |
OMIM:265050 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Hip dysplasia, Scoliosis... |
ORPHA:50 |
Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop... |
ORPHA:319171 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Pes planus |
OMIM:618302 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Genu valgum, Reduced bone mineral dens... |
ORPHA:742 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Ele... |
OMIM:614886 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... |
ORPHA:794 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of primar... |
ORPHA:2409 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Delayed skeletal maturation, Hypose... |
OMIM:614800 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Flexion contractur... |
OMIM:300534 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis |
ORPHA:207 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Low back pain, Pancytopenia, Acute myeloid leukemia, Splenomegaly, Acute myelomono... |
ORPHA:86843 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lym... |
ORPHA:1667 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica... |
ORPHA:955 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... |
OMIM:613805 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpa... |
ORPHA:1295 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Retrognathia, Butterfly vertebrae |
OMIM:619227 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... |
OMIM:613803 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Carious teeth, Delayed skeletal maturation, Small hand, Hyp... |
ORPHA:1786 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Short neck, Micrognathia, Abnormality of the spleen, Abnor... |
ORPHA:1834 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Spinal canal ... |
OMIM:277600 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia |
OMIM:241310 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Hypoplasia of the maxi... |
OMIM:608328 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hemiver... |
OMIM:304050 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Genu valgum, Joint hyperflexibility, Hypoplasia of the zygomatic bone, Cub... |
ORPHA:1778 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Dental malocclusion, Reduced bone mineral density, Abnormal pelvic girdle ... |
ORPHA:3079 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Sandal gap, Malar prominence, Joint hyperflexibility, Hypoplasia of the zy... |
ORPHA:2715 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Hypoplasia of the maxilla, Clinodactyly, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol... |
ORPHA:1110 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... |
ORPHA:828 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion... |
OMIM:269500 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Patellar a... |
OMIM:613804 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Talipes equinovarus, Camptodacty... |
ORPHA:314679 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinuses, Genu valgum... |
ORPHA:560 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Fused cervical vertebrae, Fatigabl... |
ORPHA:268882 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... |
ORPHA:2115 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... |
ORPHA:391474 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Lympho... |
OMIM:158350 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... |
OMIM:613458 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Spl... |
ORPHA:1775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia o... |
OMIM:309520 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... |
OMIM:123500 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia |
OMIM:616367 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... |
OMIM:165590 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular... |
OMIM:616462 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Micrognathia |
ORPHA:79113 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... |
OMIM:263650 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morphology, Coronal cran... |
ORPHA:2095 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Sinus... |
OMIM:102700 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Micrognathia, Contracture of the dista... |
ORPHA:83617 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Short hallux, Tapered finger, Short neck, Craniosynostosis, Hypoplasia of the maxilla... |
OMIM:608156 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Micrognathia, Hypoplasia of the maxilla, Flexion co... |
OMIM:180849 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla |
OMIM:167730 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious t... |
OMIM:182250 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Delayed skeletal maturation, Clinodactyly of the 2nd finger, Scoliosis... |
ORPHA:251061 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, De... |
ORPHA:2554 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger |
ORPHA:228396 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis |
OMIM:615108 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia... |
ORPHA:3253 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... |
OMIM:211380 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Delayed cl... |
OMIM:300373 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis |
OMIM:615109 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien... |
OMIM:301074 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Camptodactyly of finger, Micrognathia, Hypoplasia of the zygomatic bone, Scoliosis, Malar flattening |
ORPHA:1968 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... |
OMIM:157800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Metat... |
OMIM:259050 |
Angelman Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis |
OMIM:105830 |
Treacher-Collins Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ve... |
ORPHA:861 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Short long bone, Bi... |
OMIM:306955 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion, Splenomegaly, Brachydactyly |
OMIM:616368 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Treacher Collins Syndrome 3 |
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Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:248390 |
Branchioskeletogenital Syndrome |
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Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... |
ORPHA:444077 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Sacral dimple, Mandibular prognathia, Micrognathia, Coxa valga, Short nec... |
OMIM:619297 |
Autoimmune Lymphoproliferative Syndrome |
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Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Saethre-Chotzen Syndrome |
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Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Goldberg-Shprintzen Syndrome |
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Short neck, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, Small hand,... |
OMIM:609460 |
Ellis Van Creveld Syndrome |
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Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu ... |
ORPHA:289 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Radial ... |
OMIM:214800 |
Cranioectodermal Dysplasia 1 |
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Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all ... |
OMIM:218330 |
Diffuse Cutaneous Mastocytosis |
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Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Hypoglossia-Hypodactyly Syndrome |
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Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Toluene Embryopathy |
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Tapered finger, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:1920 |
Rapp-Hodgkin Syndrome |
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Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Palmoplantar ... |
OMIM:129400 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation of fin... |
ORPHA:1101 |
Peters-Plus Syndrome |
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Proximal placement of thumb, Micrognathia, Limited elbow movement, Short neck, Hypoplasia of the ... |
OMIM:261540 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Thakker-Donnai Syndrome |
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Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Hypoplasia of the maxilla, Palmoplantar keratoderma, 2-3 toe syndactyly |
OMIM:106260 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Sandal gap, Abnormal dental enamel morphology, Abnormal fibula morphology, Hypoplasia of the zygo... |
ORPHA:1812 |
Orofaciodigital Syndrome Type 1 |
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Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Preaxial h... |
ORPHA:2750 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Distal Deletion 19P |
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Long toe, Joint hyperflexibility, Hypoplasia of the maxilla, Arachnodactyly |
ORPHA:96129 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
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Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Joint laxity, Pes planus, Mandibular prognathia, Overlapping toe, Kyphoscoliosis, Hypoplasia of t... |
OMIM:617402 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Orofaciodigital Syndrome Type 4 |
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Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... |
ORPHA:2753 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Hypoplasia of the zygoma... |
OMIM:613603 |
Treacher Collins Syndrome 2 |
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Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Hypoplasia of the zygomatic bone,... |
OMIM:613717 |
Zttk Syndrome |
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Craniosynostosis, Hypoplasia of the maxilla, Kyphosis, Flexion contracture, Small hand, Hemiverte... |
OMIM:617140 |
Floating-Harbor Syndrome |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Kyphoscoliosis, Short neck, A... |
ORPHA:2044 |
Cleft Velum |
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Hypoplasia of the maxilla |
ORPHA:99772 |
Holoprosencephaly |
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Hyponatremia, Talipes, Short neck, Abnormality of the spleen, Abnormal form of the vertebral bodi... |
ORPHA:2162 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Mandibular prognathia, Prominent metopic ridge, Delayed eruption of teeth, Broad h... |
OMIM:614188 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the maxilla |
ORPHA:2399 |
Cardiofaciocutaneous Syndrome |
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Abnormal morphology of ulna, Short neck, Genu valgum, Palmoplantar keratoderma, Hypoplasia of the... |
ORPHA:1340 |
Axenfeld-Rieger Syndrome, Type 2 |
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Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:601499 |
Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H... |
OMIM:164210 |
Williams Syndrome |
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Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th... |
ORPHA:904 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Craniosynostosis, Palmoplantar cutis gyrata, Palmoplantar keratoderma, Hypoplasia of the zygomati... |
ORPHA:1555 |
Axenfeld-Rieger Syndrome |
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Hypoplasia of the maxilla |
ORPHA:782 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... |
OMIM:209885 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
X-Linked Mandibulofacial Dysostosis |
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Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:1131 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Reduced C-peptide level, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zygo... |
ORPHA:556955 |
Liver Disease, Severe Congenital |
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Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Micrognathia, I... |
OMIM:619991 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Craniofacial-Deafness-Hand Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand |
OMIM:122880 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Ablepharon Macrostomia Syndrome |
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Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger |
ORPHA:920 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Aplasia/Hypoplasia of th... |
ORPHA:306542 |
Kikuchi-Fujimoto Disease |
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Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... |
ORPHA:50918 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Hy... |
ORPHA:500150 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Prominence of the premaxilla, Arachnodactyly, Joint hypermobility, Micrognathia |
OMIM:614437 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... |
OMIM:604292 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... |
ORPHA:3404 |
Charge Syndrome |
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Delayed eruption of teeth, Talipes, Abnormal tibia morphology, Hemivertebrae, Bifid femur, Hypopl... |
ORPHA:138 |
Hypohidrotic Ectodermal Dysplasia |
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Hypoplasia of the maxilla, Sinusitis |
ORPHA:238468 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Postaxial hand polydactyly, Agenesis of ... |
OMIM:610829 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Toe syndactyly, Hypoplasia of the maxilla, Carious teeth, Split hand, Split foot, Hand polydactyl... |
OMIM:129900 |
Ablepharon-Macrostomia Syndrome |
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Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Hypoplasia of the zygomatic bone, ... |
OMIM:200110 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Hypoplasia of the maxilla, Taurodontia |
OMIM:305100 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Neonatal death, Hitchhiker thumb, Hypoplasia of the zygomatic bone |
OMIM:618500 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla |
OMIM:180500 |
Holoprosencephaly 2 |
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Malar flattening, Aplasia of the premaxilla, Scoliosis |
OMIM:157170 |