Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction |
ORPHA:2380 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micrognathia, Short neck, ... |
OMIM:256050 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f... |
ORPHA:163649 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Radia... |
OMIM:614078 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Sho... |
OMIM:184260 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Coxa valga, Short tubular b... |
ORPHA:85184 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal maturatio... |
ORPHA:61 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Coxa valga, Carious teeth, Wide... |
OMIM:269300 |
Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Dec... |
OMIM:259440 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormality of th... |
ORPHA:2511 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micrognathia, Abnormality of the humerus, Joint stiffness... |
ORPHA:2496 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... |
ORPHA:2347 |
Lethal Osteosclerotic Bone Dysplasia |
|
Short neck, Micrognathia, Large fontanelles, Mandibular aplasia, Retrognathia, Delayed cranial su... |
ORPHA:1832 |
Achondroplasia |
|
Lumbar hyperlordosis, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of fing... |
ORPHA:15 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Large fontanelles, Decreased skull oss... |
ORPHA:2097 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... |
OMIM:610968 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Short neck, Abnormal cartilage colla... |
OMIM:156550 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... |
OMIM:245650 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Short neck, Micrognathia, Wide anterior fontanel, Hip dysp... |
OMIM:614541 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Micrognathia, Fl... |
OMIM:215150 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... |
OMIM:146000 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Elb... |
ORPHA:3258 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epip... |
OMIM:613320 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... |
ORPHA:296 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Oste... |
OMIM:231070 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Wormian bones, Aplastic clav... |
OMIM:265800 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Metatarsus adductus, Elbow disloca... |
ORPHA:2249 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5t... |
ORPHA:1452 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... |
OMIM:102370 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Increased bone mineral density, Ab... |
ORPHA:1798 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Fem... |
OMIM:610682 |
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 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Premature closure of fontanelles, Brachydactyly |
ORPHA:221054 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ... |
OMIM:616229 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Lethal Recessive Chondrodysplasia |
|
Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Short long bone, Flare... |
ORPHA:1423 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentation defect |
OMIM:618845 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal maturation, Craniosy... |
OMIM:175700 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Decr... |
OMIM:263210 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... |
OMIM:620099 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Micrognat... |
OMIM:601390 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... |
OMIM:609220 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly... |
OMIM:616294 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sho... |
OMIM:619638 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni... |
OMIM:300232 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal, Short tibia... |
OMIM:118651 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S... |
ORPHA:93324 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den... |
OMIM:112240 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... |
OMIM:151210 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wormian bones, Brachydactyly |
ORPHA:2863 |
Laron Syndrome |
|
Delayed skeletal maturation, Abnormal joint morphology, Short long bone |
OMIM:262500 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Delayed skeletal maturation, Congenital hip dislocation, Wormian bones |
OMIM:614450 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, Spina bif... |
ORPHA:2780 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Craniosynostosis, Supernumerary tooth, Metopic synostosis, Triphalangeal th... |
OMIM:604757 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Micrognat... |
OMIM:615546 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver... |
OMIM:224300 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Micrognathia, Wormian bones, Clinodactyly, Retrognathia, Brachydactyly |
OMIM:617808 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... |
OMIM:615777 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck, ... |
OMIM:616897 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ... |
OMIM:250420 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi... |
OMIM:611717 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavic... |
ORPHA:85199 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, An... |
ORPHA:1865 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... |
OMIM:252100 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micrognathia, Short neck, Metaphyseal widening, Limit... |
OMIM:224400 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ... |
OMIM:616602 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic... |
ORPHA:50945 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... |
OMIM:215140 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ... |
ORPHA:357058 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Coxa v... |
OMIM:119600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... |
OMIM:257850 |
Mucolipidosis Iii Alpha/Beta |
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Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Stuve-Wiedemann Syndrome 1 |
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Enlarged joints, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contractur... |
OMIM:601559 |
Saethre-Chotzen Syndrome |
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Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... |
ORPHA:794 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
Achondrogenesis Type 2 |
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Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... |
ORPHA:93296 |
Premature Aging Syndrome, Penttinen Type |
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Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Micrognathia, Hypoplasia of the ma... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Broad long bones, Abnormal metatarsal morphology, Short neck, Delayed skeletal maturation, Cuboid... |
ORPHA:163654 |
Atelosteogenesis Type I |
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Joint dislocation, Short femur, Micrognathia, Abnormal ossification involving the femoral head an... |
ORPHA:1190 |
Potocki-Shaffer Syndrome |
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Wormian bones, 2-5 finger cutaneous syndactyly, Brachydactyly |
OMIM:601224 |
Gomez-Lopez-Hernandez Syndrome |
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Wormian bones, Wide anterior fontanel, Craniosynostosis |
OMIM:601853 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... |
ORPHA:289157 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Melnick-Needles Syndrome |
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Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio... |
OMIM:309350 |
Silver-Russell Syndrome 1 |
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Syndactyly, Micrognathia, Delayed skeletal maturation, Short distal phalanx of the 5th finger, Cl... |
OMIM:180860 |
Apert Syndrome |
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Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Death in early adulthood, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive cla... |
OMIM:608612 |
Achondrogenesis, Type Ii |
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Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Menkes Disease |
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Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Death in childhood, Wormian ... |
OMIM:309400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Bowing of the long bones, Micrognathia, Short long bone, Neonatal death, Pterygium, Anisospondyly |
OMIM:224410 |
Idiopathic Congenital Hypothyroidism |
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Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... |
ORPHA:95717 |
Sponastrime Dysplasia |
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Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Wide cranial sutures, Congenital hip dislocation, Delayed skeletal maturation, Hip dislocation, L... |
OMIM:219150 |
Thanatophoric Dysplasia, Type I |
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Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Campomelic Dysplasia |
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Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Schwartz-Jampel Syndrome |
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Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Death in infancy, Abnormally ossi... |
ORPHA:800 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Severe generalized... |
OMIM:210730 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Joint laxity, Aplasia... |
OMIM:151050 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,... |
OMIM:252500 |
Lowry-Maclean Syndrome |
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Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosyn... |
ORPHA:2409 |
Nestor-Guillermo Progeria Syndrome |
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Microretrognathia, Wide cranial sutures, Limited elbow movement, Micrognathia, Delayed closure of... |
OMIM:614008 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteopenia, Down-sloping shoulders, Coxa valga, Micrognathia, Joint stiffness, Flexion contractur... |
OMIM:248370 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Large posterior fontanelle, Postaxial polydactyly, Micrognathia, Short neck, Wide an... |
OMIM:617925 |
Lateral Meningocele Syndrome |
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Prominent metopic ridge, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Abnormal form of the ... |
ORPHA:2789 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Bicoronal synostosis, Joint stiffness, Tracheobronchomalacia, Short long bone, Scoliosis, Short p... |
OMIM:619184 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
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Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Dubowitz Syndrome |
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Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal... |
ORPHA:235 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... |
ORPHA:85167 |
Lessel-Kreienkamp Syndrome |
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Clinodactyly of the 5th finger, Wide cranial sutures, Dental malocclusion |
OMIM:619149 |
Congenital Disorder Of Glycosylation, Type Iig |
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Osteopenia, Thoracic scoliosis, Broad femoral neck, Micrognathia, Short neck, Kyphoscoliosis, Squ... |
OMIM:611209 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Cutis Laxa, Autosomal Dominant 3 |
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Os odontoideum, Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture ... |
OMIM:616603 |
Hajdu-Cheney Syndrome |
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Osteopenia, Joint laxity, Kyphoscoliosis, Micrognathia, Short neck, Tall lumbar vertebral bodies,... |
OMIM:102500 |
Osteogenesis Imperfecta |
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Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Opsismodysplasia |
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Short metacarpal, Short neck, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, Finger syndactyly, Increased bone mineral density, Abnormal dental enamel ... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type Xx |
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Mandibular prognathia, Kyphoscoliosis, Multiple prenatal fractures, Wormian bones, Vertebral comp... |
OMIM:618644 |
Xylt1-Cdg |
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Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
Cutis Laxa, Autosomal Recessive, Type Iib |
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Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Scoliosis, W... |
OMIM:612940 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... |
OMIM:259100 |
Gapo Syndrome |
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Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, Wide an... |
OMIM:230740 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea... |
OMIM:250220 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... |
ORPHA:96334 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian... |
OMIM:130720 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Joint laxity, Scoliosis, Delayed cranial suture closure |
OMIM:616260 |
Parietal Foramina 1 |
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Wormian bones |
OMIM:168500 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Mandibuloacral Dysplasia |
|
Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defects of the di... |
ORPHA:2457 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Short neck, Micrognathia, Joint stiffness,... |
ORPHA:2995 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Short neck, Bone pain, Decreased skull ossification, Partial absence of... |
ORPHA:955 |
Silver-Russell Syndrome |
|
Sandal gap, Micrognathia, Delayed skeletal maturation, Abnormal appendicular skeleton morphology,... |
ORPHA:813 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short clavicles, Lambdoidal craniosynosto... |
OMIM:603116 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed cra... |
OMIM:278250 |
Familial Thyroid Dyshormonogenesis |
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Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... |
ORPHA:95716 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Overlapping toe, Delayed skeletal maturation, Flexion contracture, Scoliosis, Overlapping fingers... |
OMIM:619383 |
Ogden Syndrome |
|
Microretrognathia, Broad hallux, Delayed cranial suture closure, Scoliosis |
ORPHA:276432 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... |
OMIM:225500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly,... |
OMIM:616300 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Wormian bones, Micrognathia, Hyperlordosis, Supernumerary tooth, Metaphyseal widenin... |
OMIM:234100 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Metatarsus adductus, Delayed skeletal maturation, Premature osteoarthritis,... |
OMIM:611962 |
Alg9-Cdg |
|
Microretrognathia, Prominent metopic ridge, Micrognathia, Short neck, Wide anterior fontanel, Fla... |
ORPHA:79328 |
White-Sutton Syndrome |
|
Mandibular prognathia, Joint laxity, Micrognathia, Short neck, Hypoplastic cervical vertebrae, Wo... |
OMIM:616364 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Femoral bowing, Short long bone, Overla... |
OMIM:617022 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint dislocation, Aplasia/hypoplasia in... |
ORPHA:221016 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closur... |
ORPHA:2962 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Overlapping toe, Short neck, Hypoplasia of the maxilla, ... |
OMIM:139210 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe... |
ORPHA:90153 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Clinodactyl... |
OMIM:180849 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... |
OMIM:601707 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Micrognathia... |
ORPHA:798 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Micrognathia |
OMIM:617237 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De... |
ORPHA:90349 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Scoliosis, Clinodactyly of the 5th finger, Delayed cranial... |
ORPHA:2135 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... |
OMIM:618188 |
Diamond-Blackfan Anemia 1 |
|
Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... |
OMIM:105650 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge... |
ORPHA:86822 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... |
ORPHA:565 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, Delayed skeletal maturation, Split hand, Large fontanelles, Hammertoe, ... |
OMIM:261515 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Limitation of join... |
ORPHA:1272 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Micrognathia |
OMIM:154230 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... |
OMIM:269150 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Arthritis |
ORPHA:829 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Micrognathia, Short toe, Hemivertebrae, Camptodactyly, R... |
ORPHA:171929 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Micrognathia, Coxa valga, Short nec... |
ORPHA:263508 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Micrognathia,... |
OMIM:619127 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Hypoplasia of the fronta... |
ORPHA:306542 |
Hartsfield Syndrome |
|
Craniosynostosis, Syndactyly, Ectrodactyly, Hypoplasia of the frontal bone |
OMIM:615465 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Joint laxity, Arachnodactyly, Generalized joint laxity, Lar... |
OMIM:601776 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanel... |
ORPHA:2211 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... |
ORPHA:444077 |
Ogden Syndrome |
|
Microretrognathia, Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocatio... |
OMIM:300855 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossi... |
ORPHA:90674 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial sutu... |
OMIM:601088 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closur... |
ORPHA:2834 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Accelerated skeletal maturation, 2-3 toe syndactyly, Scoliosis, ... |
OMIM:618653 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short iliac bones, Abnormal iliac wing morphology, Poorly ... |
ORPHA:3003 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Craniosynostosis, Micrognathia, Tapered finger, Small hand, Hip dysplasia, Delayed cranial suture... |
OMIM:620005 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of the epiglottis... |
OMIM:617088 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Micrognathia, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial sut... |
OMIM:619325 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling |
ORPHA:29207 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Short neck, Delayed proximal femoral epiphyseal ossification, Hand po... |
ORPHA:226307 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure |
OMIM:613038 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral c... |
ORPHA:90348 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteochondrosis, Osteolysis |
ORPHA:2396 |
Medulloblastoma |
|
Back pain, Delayed cranial suture closure |
ORPHA:616 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Short foot, Hip dyspla... |
ORPHA:1606 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Micrognathia, Short neck, Flexion contracture, Camptodactyly of 2nd-5... |
OMIM:601803 |