Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Smith-Mccort Dysplasia 1 |
|
Prominent sternum, Barrel-shaped chest, Platyspondyly, Genu valgum, Metaphyseal irregularity, Dol... |
OMIM:607326 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Platyspondyly, Short neck, Short nose, Rhizomelia, Proptosis, Dumbbell... |
OMIM:228520 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad phalanx, Bulbous nose, Micrognathia, Bifid nose, Bifid nasal tip, Broad metatarsal, Brachyc... |
OMIM:275595 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes e... |
OMIM:601560 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Deeply set eye, Hypertelorism,... |
ORPHA:93333 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Schneckenbecken Dysplasia |
|
Macrocephaly, Short neck, Platyspondyly, Ovoid vertebral bodies, Dumbbell-shaped long bone, Midfa... |
OMIM:269250 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Hypertelorism, Short ribs, Camptodactyly of finger, Short n... |
ORPHA:2021 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... |
OMIM:132400 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Abnormality of the vertebral endplates, Platyspondyly, Irregular epiphyse... |
ORPHA:1856 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Wide distal femoral me... |
OMIM:619598 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal pinna morphology, Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upp... |
ORPHA:93307 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... |
OMIM:250215 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... |
OMIM:618150 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Short nose, Rhizomelia, Multinuclea... |
OMIM:108720 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... |
OMIM:251450 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Scoliosis, Brachydacty... |
OMIM:226900 |
Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Hypoplasia of the ulna, Short nose, ... |
ORPHA:950 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Low-set ears, Narrow chest, Metaphyseal cupping, Platyspondyly, M... |
ORPHA:85166 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping... |
OMIM:616716 |
Isotretinoin Syndrome |
|
Microtia, Micrognathia, Spina bifida occulta, Biparietal narrowing, Sacral dimple |
ORPHA:2305 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Rhizomelia, Short... |
OMIM:601438 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finge... |
ORPHA:1323 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Short ... |
OMIM:200600 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Flexion contracture, Osteopenia, Micrognathia, Short humerus, Scol... |
OMIM:222765 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Protruding ear, Cone-shaped epiphyses of the middle phalanges of the hand, Sparse hair, Osteopeni... |
OMIM:190351 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Acromicric Dysplasia |
|
Joint stiffness, Fifth metacarpal with ulnar notch, Abnormality of femur morphology, Abnormal eye... |
ORPHA:969 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Hypertrichosis, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizo... |
OMIM:619636 |
Ruvalcaba Syndrome |
|
Narrow chest, Kyphosis, Small hand, Scoliosis, Micromelia, Limited elbow extension, Short phalanx... |
OMIM:180870 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital h... |
OMIM:304120 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... |
ORPHA:3269 |
Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Conductive hearing impairment, Deeply set eye, Talipes equinovarus, Hypot... |
OMIM:602471 |
Osteoglophonic Dysplasia |
|
Broad phalanx, Craniosynostosis, Shallow orbits, Platyspondyly, Short neck, Short nose, Rhizomeli... |
OMIM:166250 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Kyphosis, Abnormal antihelix morphology, Clinodactyly of the 5th f... |
ORPHA:1005 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Sensorineural hearing impairment, Kyphosis, Macroglossia, Femoral retroversion, Scoliosis, Microm... |
ORPHA:79107 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... |
ORPHA:2779 |
Craniodigital-Intellectual Disability Syndrome |
|
Generalized hirsutism, Thick eyebrow, Micrognathia, Abnormal hair pattern, Spina bifida occulta, ... |
ORPHA:1514 |
Cleidocranial Dysplasia |
|
Macrocephaly, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, G... |
ORPHA:1452 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi... |
ORPHA:958 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impair... |
OMIM:186500 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Sensorineural hearing impairment, Short femur, Micrognathia, Metaphyseal widening, ... |
ORPHA:440354 |
Cousin Syndrome |
|
Facial hirsutism, Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Cli... |
OMIM:260660 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... |
OMIM:602875 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Paternal Uniparental Disomy Of Chromosome X |
|
Infertility, Short neck, Shield chest, Low-set, posteriorly rotated ears, Cubitus valgus, Short m... |
ORPHA:261524 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Sprengel anomaly, Rib fusion, Talipes equinovarus, Apla... |
ORPHA:1988 |
Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Barrel-shaped ... |
OMIM:615222 |
Anauxetic Dysplasia 3 |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... |
OMIM:618853 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Clinodactyly of the 5th finger, Microcephaly, Pectus carinatum, Macrotia, Ab... |
ORPHA:3079 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ... |
ORPHA:3258 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Cone-shaped epiphysis, Upper limb undergrowth, Caudal interpedicular narrowing, Br... |
ORPHA:439822 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera... |
OMIM:171480 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Thick eyebrow, Radial club hand, Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingern... |
ORPHA:1278 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
3M Syndrome |
|
Short neck, Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypoplastic pelvis, R... |
ORPHA:2616 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Osteopenia, Pectus carinatum, Coxa magna, Sparse lateral eyebrow, Leukonychia, Flat ... |
OMIM:190350 |
Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Overfolded helix, Femoral bowing, Narrow foot, Tapered finger... |
OMIM:600920 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Short distal phalanx of finger, Protruding ear, Clinodactyly of the 5th finger, Leukonychia, Spar... |
ORPHA:77258 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Abnormally ossified vertebr... |
ORPHA:1512 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Fair hair, Blue irides, Cone-shaped epiphysis, Brachydactyly, Short phalan... |
OMIM:614613 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Coarse hair, Osteolytic def... |
OMIM:309350 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short nail, Femoral bowing, Short 1st metacarpal, 11 pairs of... |
OMIM:114290 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... |
OMIM:210720 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... |
ORPHA:1350 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short... |
OMIM:250230 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short neck, 11 pairs of ribs, Proptosis, Bowi... |
ORPHA:140 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... |
OMIM:151200 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ... |
OMIM:184260 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Schneckenbecken Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Macrocephaly, Malar flattening, Short ribs, Increased... |
ORPHA:3144 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Craniosynostosis, Femo... |
ORPHA:95699 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles, Scoliosis, Pes pl... |
OMIM:248800 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili... |
OMIM:169550 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Scoliosis, Biconcave vertebral bodies, Sh... |
OMIM:610319 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse hair, Long clavicl... |
OMIM:602613 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Cleidocranial Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, Absent frontal sinuses, Sp... |
OMIM:119600 |
Exostoses, Multiple, Type Ii |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133700 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... |
OMIM:615170 |
Thanatophoric Dysplasia Type 1 |
|
Narrow chest, Kyphosis, Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hyp... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Upper limb undergr... |
ORPHA:94068 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Pectus carinatum,... |
OMIM:184255 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... |
OMIM:304950 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... |
ORPHA:56304 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... |
OMIM:156510 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the uln... |
OMIM:200980 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Abnorma... |
ORPHA:75508 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Platyspondyly, Short neck, Short nose, Thoracic hypoplasia, Flexion contracture, Shor... |
OMIM:616897 |
Mucolipidosis Ii Alpha/Beta |
|
Pectus excavatum, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Bullet-shaped phalan... |
OMIM:252500 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... |
ORPHA:79445 |
Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Barrel-shaped chest, Scoliosis, Abnormal for... |
ORPHA:263463 |
Craniosynostosis 1 |
|
Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio... |
OMIM:123100 |
Cri-Du-Chat Syndrome |
|
Diastasis recti, Overfriendliness, Abnormal pinna morphology, Premature graying of hair, Microret... |
OMIM:123450 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short... |
OMIM:611263 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormality of hair texture, Depressed nasal ridg... |
ORPHA:1520 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... |
OMIM:164745 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Hypertelorism... |
ORPHA:420794 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia... |
ORPHA:1505 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Brachydactyly, Bilateral single transverse palmar creases, Scoliosis, Abnormalit... |
ORPHA:968 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hirsutism, Hypertelorism, Microtia, Micrognathia, Hypoplasia of the ulna, Clinodactyly, Synophrys... |
ORPHA:357175 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphysis, Proptosis, S... |
ORPHA:1427 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Protruding ear, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the... |
ORPHA:2256 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Brachydactyly Type E |
|
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... |
ORPHA:93387 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic... |
OMIM:268310 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... |
ORPHA:1826 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Hypoplastic sacrum, Osteopenia, Cone-shaped epiphysis, Hypoplastic pelvis, Rhizomeli... |
OMIM:614813 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Short neck, Hypop... |
OMIM:609945 |
Tetraploidy |
|
Hypoplasia of the ear cartilage, Micrognathia, Microcephaly, Radial club hand, Biparietal narrowing |
ORPHA:3305 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Hypertelorism, Craniosynostosis, Microtia, Osteopenia, Femoral bowing, Platyspon... |
OMIM:616723 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... |
ORPHA:2249 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Osteopenia, Sacral dimple, Talipes equinovarus, Tracheomalacia, Microtia... |
OMIM:615546 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Pectus excavatum, Rhizo-meso-acromelic limb shortening, Platyspondyly, Short neck, Small epiphyse... |
OMIM:611717 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Nail dysplasia, Sparse hair, Postaxial polydactyly,... |
OMIM:614091 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hirsutism, Hypertelorism, Microtia, Micrognathia, Hypoplasia of the ulna, Clinodactyly, Synophrys... |
OMIM:615162 |
Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Absent fingernail, Abse... |
OMIM:276821 |
Toluene Embryopathy |
|
Protruding ear, Micrognathia, Microcephaly, Tapered finger, Hypoplasia of the zygomatic bone, Low... |
ORPHA:1920 |
Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, Sparse hair, 11 pairs of ribs, Short phalanx of finger, Short m... |
OMIM:618724 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Osteopenia, Sacral dimple, Talipes equinovarus, Tracheomalacia, Microtia... |
OMIM:601390 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Abnormal pinna morphology, Clinodactyly of the 5th finger, Microretrognathia, Biparietal narrowin... |
ORPHA:228396 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic pelvis, Umbili... |
OMIM:308050 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... |
OMIM:607143 |
Kyphomelic Dysplasia |
|
Femoral bowing, Platyspondyly, Micromelia, Dumbbell-shaped humerus, Thoracic hypoplasia, Talipes ... |
OMIM:211350 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, ... |
ORPHA:2233 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Adducted thumb, Micrognathia, Frontal bossing, Synophrys, Wide nasal bridge |
ORPHA:3207 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Distal ... |
OMIM:277150 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Parietal foramina, Brachydactyly, Short nose, Sparse lateral eye... |
OMIM:601224 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... |
OMIM:601356 |
Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Pe... |
OMIM:615777 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge, Abnormal rib morphology, Frontal bossing, Diaphyseal t... |
ORPHA:1513 |
Pseudopseudohypoparathyroidism |
|
Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal |
OMIM:612463 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Short nose, Genu valgum, Propto... |
OMIM:614078 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Hypoplastic fifth fingernail, Absent toe, Sho... |
OMIM:614814 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Micrognathia, Narrow palm, Tapered finge... |
OMIM:216550 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Sensorineural hearing impairment, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyper... |
OMIM:215150 |
Czech Dysplasia |
|
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca... |
OMIM:609162 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Thin eyebrow, Tapered finger, Thick nasal alae, High anterior hairline, Wide nas... |
OMIM:618147 |
Autosomal Dominant Omodysplasia |
|
Hypertelorism, Short 1st metacarpal, Micrognathia, Short humerus, Short nose, Rhizomelia, Short p... |
ORPHA:93328 |
Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Short neck, Anencephaly, Short long bone, Short ribs, Bowing of the ar... |
OMIM:269860 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Barrel-shaped chest,... |
OMIM:610915 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Sparse eyebrow, Femoral bowing, Platyspondyly, Short neck, Micromelia,... |
OMIM:210710 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Osteoarthritis, Irregular epiphyses, Abnor... |
OMIM:600969 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Sparse eyebrow, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis, Hyp... |
OMIM:143095 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Umbilical hernia, Hypertelorism, Short ... |
OMIM:613328 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Ruvalcaba Syndrome |
|
Narrow chest, Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Hypopigmented skin... |
ORPHA:3121 |
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Mixed hearing impairment, Brachydactyly, Scoliosis, Aplasia/Hypoplasia of toe, Short middle phala... |
OMIM:613627 |
Atelosteogenesis Type I |
|
Narrow chest, Talipes equinovarus, Hypertelorism, Abnormal ossification involving the femoral hea... |
ORPHA:1190 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... |
ORPHA:2878 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Facial hirsutism, Absent proximal finger flexion creases, Talipes equi... |
ORPHA:2839 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Hypogona... |
OMIM:101800 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Pectoralis hypoplasia... |
OMIM:607323 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... |
ORPHA:2491 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Synophrys, Tar... |
OMIM:605282 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachycephaly, Brachydactyly, Midface retrusion |
ORPHA:35099 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalan... |
OMIM:311300 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... |
OMIM:227270 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Intrinsic hand muscle atrophy, Thoracic scoliosis, Flexion contracture, Camptodactyly of finger, ... |
ORPHA:324442 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... |
OMIM:609324 |
Distal Monosomy 10Q |
|
Facial diplegia, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Tapered finger, Si... |
ORPHA:96148 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Thick hair, Abnormal helix morphol... |
ORPHA:217017 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, Micr... |
OMIM:215140 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Deeply set eye, Short neck, Brachydactyly, Short metatarsal, Short metacarpal, Wide nasal bridge |
OMIM:617157 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Pectus excavatum, Hypotelorism, ... |
OMIM:201050 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Brachydactyly, Scoliosis... |
ORPHA:40 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Skeletal muscle hypertrophy, Alopecia, Brachydactyly, Osteolyti... |
OMIM:600705 |
Acrofacial Dysostosis, Palagonia Type |
|
Pili torti, Sparse eyebrow, Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal... |
OMIM:601829 |
Codas Syndrome |
|
Sensorineural hearing impairment, Short metacarpal, Overfolded helix, Congenital hip dislocation,... |
ORPHA:1458 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Macrocephaly, Benign Familial |
|
Dolichocephaly, Frontal bossing, Macrocephaly, Biparietal narrowing |
OMIM:153470 |
Cornelia De Lange Syndrome 2 |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Small hand, Micrognathia, Highly arched eyebrow,... |
OMIM:300590 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Micrognathia, Tapered finger, Large hands, Synophrys, Short 5th metacarpal, ... |
OMIM:102150 |
Deafness-Craniofacial Syndrome |
|
Frontal bossing, Underdeveloped nasal alae, Wide nasal bridge, Alopecia |
OMIM:125230 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Abnormal antihelix morphology, Hypoplasia of the antihelix, Hearing impairment, Short metacarpal,... |
ORPHA:2489 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... |
ORPHA:1972 |
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Nail dysplasia, Anonychia, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of th... |
OMIM:106990 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radiouln... |
ORPHA:2319 |
Steel Syndrome |
|
Sensorineural hearing impairment, Dislocated radial head, Scoliosis, Hypertelorism, Wide nasal br... |
OMIM:615155 |
Weaver Syndrome |
|
Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, ... |
OMIM:277590 |
Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Alopecia, Short neck, Alopecia totalis, Short nose, Talipes equinovarus, Flexion co... |
OMIM:263650 |
Martsolf Syndrome 1 |
|
Pectus excavatum, Finger joint hypermobility, Pectus carinatum, Broad fingertip, Abnormal toenail... |
OMIM:212720 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Low-set ears, Clinodactyly of the 5th finger, Hypertelorism, Short mandibular rami, Small hand, M... |
OMIM:170390 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi... |
ORPHA:1388 |
Lamb-Shaffer Syndrome |
|
Overlapping toe, Long hallux, Bulbous nose, Depressed nasal bridge, Pectus carinatum, Long finger... |
OMIM:616803 |
Dystonia, Juvenile-Onset |
|
Sensorineural hearing impairment, Hypoplastic scapulae, Kyphoscoliosis |
OMIM:607371 |
Fetal Alcohol Syndrome |
|
Vertebral segmentation defect, Micrognathia, Microcephaly, Low-set, posteriorly rotated ears, Bip... |
ORPHA:1915 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hand polydactyly, Abnormality of the vertebral column, Short humerus, Abnormal vertebral morpholo... |
OMIM:314390 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, Long hallux, Hypertrichosis, Thick eyebrow, Low anterior hairline... |
OMIM:618658 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Clinodactyly of the 5th finger, Macrocephaly, Small hand, Camptodactyly of finger, Down... |
ORPHA:85293 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
ORPHA:50809 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Biconv... |
OMIM:616651 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Brachydactyly, Syno... |
ORPHA:1275 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Long foot, Sandal gap, Short metatarsal, Wide nasal bridge, Small... |
OMIM:612916 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Brachydactyly, Short metacarpal |
OMIM:113400 |
Opsismodysplasia |
|
Shallow orbits, Short neck, Severe platyspondyly, Short nose, Rhizomelia, Posterior rib cupping, ... |
OMIM:258480 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutaneous syndactyly, G... |
ORPHA:166024 |
Mietens Syndrome |
|
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Hypoplasia of the ulna, Sandal gap, Vertebral segmentation defect, Short distal... |
ORPHA:959 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Pectus excavatum, Cutaneous syndactyly, Sandal gap, Micrognathia, Atres... |
ORPHA:2980 |
Alagille Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Protruding ear, Clinodactyly of th... |
ORPHA:52 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Genu valgum, Small epiphyses, Thoracic hypoplasia, Short long bone, Advanced ossification of carp... |
OMIM:618363 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hypertelorism, Hip dysplasi... |
ORPHA:9 |
Codas Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Delayed o... |
OMIM:600373 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Pectus excavatum, Horizontal sacrum, Pectus carinatum, Short nose, Twelfth rib hypoplasia, Absent... |
OMIM:211910 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Patellar dislocation, Clinodactyly of the 5th finger, Micrognathi... |
ORPHA:3320 |
Pitt-Hopkins Syndrome |
|
Prominent fingertip pads, Short fourth metatarsal, Hyperconvex nail, Sparse medial eyebrow, Short... |
OMIM:610954 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Hypertelorism |
OMIM:212780 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... |
ORPHA:1240 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Reduced bone mineral density, Scoliosis, Abnormal form of the ver... |
ORPHA:2370 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Short nose, Propto... |
OMIM:271665 |
Brachydactyly, Type E2 |
|
Short metatarsal, Brachydactyly, Short metacarpal |
OMIM:613382 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Small nail, Talipes equinovalgus, Aplastic/hypoplastic toenail, Brachydactyly, ... |
OMIM:228900 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Short toe, Deeply set eye, Short phalanx of finger, Short metat... |
OMIM:600430 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Osteopenia, Short neck, Hyp... |
OMIM:266920 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Absent thumb, Retrognathia, Hypoplastic pelvis, Hypoplastic scapulae, Bowed humerus |
OMIM:618022 |
Larsen Syndrome |
|
Pectus excavatum, Short nail, Talipes equinovalgus, Shallow orbits, Pectus carinatum, Elbow dislo... |
OMIM:150250 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Recurrent fractures, Kyphosis, Increased bone mineral density, ... |
OMIM:239000 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Microgn... |
ORPHA:3098 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Pallister W Syndrome |
|
Radial bowing, Joint contracture of the hand, Frontal upsweep of hair, Pes cavus, Camptodactyly, ... |
OMIM:311450 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Hip subluxation, Dysplasia of the femoral head, Abnormality... |
ORPHA:99642 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short neck, Brachydactyly, Osteoporosis, Short finger, Hypogonadism, Short metatarsal,... |
OMIM:103580 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... |
OMIM:617719 |
Brachydactyly, Type E1 |
|
Short clavicles, Brachydactyly, Type E brachydactyly, Short metatarsal, Short metacarpal, Straigh... |
OMIM:113300 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... |
OMIM:609441 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Short n... |
OMIM:134780 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Osteolytic def... |
ORPHA:2484 |
Acrofacial Dysostosis, Palagonia Type |
|
Pili torti, Low anterior hairline, Sparse hair, Sparse eyelashes, Small hand, Micrognathia, Thin ... |
ORPHA:1787 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Coarse hair, Platyspondyly... |
OMIM:304150 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Genu recurvatum, Reduced bone mineral density, Scoliosis, Talipes, Short metac... |
ORPHA:2611 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Pes ... |
OMIM:619638 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short nail, Platyspondyly, Short neck, 11 pairs... |
OMIM:271640 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Hypoplastic su... |
ORPHA:3080 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l... |
OMIM:602080 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Increased anterior vertebral height, Decreased hip abduction, Coxa vara, Delayed epiphyseal ossif... |
OMIM:183849 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Kyphoscoliosis, Pectus excavatum, Hypotelorism, Micrognathia, Short phalanx of finger, Atresia of... |
OMIM:264475 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra... |
ORPHA:93284 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Skeletal muscle hypertrophy, Micrognathia, Short neck, Scolio... |
ORPHA:314795 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Broad nasal tip, Wide nasal bridge, Flattened knee epiphyses |
OMIM:600093 |
Monosomy 5P |
|
Recurrent fractures, Microretrognathia, Finger syndactyly, Small hand, Short neck, Scoliosis, Low... |
ORPHA:281 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po... |
OMIM:613091 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Supernumerary nipple, Microtia, Hypoplasia of the radius, Microgna... |
ORPHA:246 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... |
OMIM:123150 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Protruding ear, Biparietal narrowing, Micrognathia, Scoliosis, Frontal bossing, Proxima... |
ORPHA:261250 |
3Q29 Microduplication Syndrome |
|
Macrocephaly, Craniosynostosis, Camptodactyly of toe, Microcephaly, Short neck, Hearing impairmen... |
ORPHA:251038 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Pectus excavatum, Supernumerary nipple, Supernumerary vertebrae, H... |
OMIM:263750 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Microcephaly, Scoliosis, Low-set ears, Biparietal narrowing |
ORPHA:261190 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
8P23.1 Microdeletion Syndrome |
|
Enlarged thorax, Micrognathia, Broad hallux phalanx, Short neck, Microcephaly, External ear malfo... |
ORPHA:251071 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... |
ORPHA:2639 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sand... |
OMIM:256050 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly, Anteverted nares, Wide nasal bridge |
OMIM:619311 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Unilambdoid synostosis, Short nose, Long eyelashes, Clinodactyly, An... |
OMIM:618577 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Microcephaly, Protruding ear, Scoliosis, Biparietal narrowing |
ORPHA:2518 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia of the 3... |
OMIM:181450 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Micrognathia, Depressed nasal b... |
ORPHA:2097 |
Anauxetic Dysplasia 2 |
|
Nail dysplasia, Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Flexion co... |
OMIM:617396 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Nail dysplasia, Abnormality of hair texture, Short distal phalanx... |
OMIM:601957 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodies, Bowing of the l... |
ORPHA:85167 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Pectus carinatum, Short nose, Block vertebrae, Vertebral segmentation defect, Carpal ... |
OMIM:272460 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Camptodactyly of finger, Chess-pawn distal p... |
OMIM:113450 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the finger joints, Plat... |
OMIM:313420 |
Pseudohypoparathyroidism, Type Ic |
|
Short neck, Brachydactyly, Osteoporosis, Hypogonadism, Short metatarsal, Short metacarpal |
OMIM:612462 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal... |
ORPHA:93430 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Overfolded helix, Micromelia, Symphalangism affecting the phalanges... |
ORPHA:628 |
Frontometaphyseal Dysplasia 2 |
|
Abnormal pinna morphology, Pectus excavatum, Congenital hip dislocation, Finger clinodactyly, Tal... |
OMIM:617137 |
Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Proptosis, Abnormal epiphysis morphol... |
ORPHA:93359 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Pectus excavatum, Osteopenia, Ankle clonus, Scoliosis, Osteoporosis, Hypoplasia of the ulna, Shor... |
OMIM:615398 |
Coffin-Lowry Syndrome |
|
Pectus excavatum, Broad finger, Tapered finger, Pectus carinatum, Death in early adulthood, Skele... |
ORPHA:192 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Short toe, Sparse hair, Sparse eyelashes, Absent pubic hair, Short phalanx of finger, Hypoplastic... |
OMIM:211370 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Scoliosis, Amelia, Anterior encephalocele, Low-set ears, Foot oligodactyly |
OMIM:601357 |
Baller-Gerold Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Carpal synostosis, R... |
OMIM:218600 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Miscarriage, Microtia, Short 1st ... |
ORPHA:2438 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation, Hyp... |
OMIM:300434 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal ilium morphol... |
ORPHA:163665 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Absent facial hair, Sparse facial hair, Hypergonadotropic hypogonadism, Short neck, Cubitus valgu... |
ORPHA:2183 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sensorineural hearing impairment, Deeply set eye, Hypertelorism, Short fourth metatarsal, Short n... |
ORPHA:464288 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Pectus excavatum, Massively thickened long bone cortices, Thin calvarium, Brachydactyly, Micromel... |
OMIM:122900 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Non-Distal Trisomy 10Q |
|
Pectus excavatum, Convex nasal ridge, Micrognathia, Depressed nasal bridge, Frontal bossing, Shor... |
ORPHA:1695 |
W Syndrome |
|
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Cubitus valgus, Clin... |
ORPHA:2804 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Talipes equinovarus, Microretrognathia, Hand ol... |
ORPHA:1788 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Microtia, Brachydactyly, Low-set, posteriorly rotated ears, Atresia of the external auditory cana... |
ORPHA:1770 |
Blomstrand Lethal Chondrodysplasia |
|
Distal shortening of limbs, Narrow chest, Metaphyseal cupping, Increased bone mineral density, Sh... |
ORPHA:50945 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Short r... |
OMIM:618961 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Multiple joint contractures, Clinodactyly of the 5th finger, Macr... |
OMIM:618143 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... |
ORPHA:3266 |
Non-Distal Monosomy 10Q |
|
Overlapping fingers, Clinodactyly of the 5th finger, Brachydactyly, Biparietal narrowing |
ORPHA:1581 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose, Brachycephaly, Flat occiput |
ORPHA:46 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Low-set ears, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinov... |
ORPHA:2347 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Alopecia of scalp, Anteverted nares, Brachycephaly, Midface retrusion, Turrice... |
ORPHA:1532 |
Joubert Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hand polydactyly, Low-set ears, Foot polydactyl... |
ORPHA:475 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, 11 pairs of ribs, ... |
OMIM:250220 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Tapered finger, Abnormality of fibula morphology, Proptosis, Sandal gap, Vertebral se... |
ORPHA:251014 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Bulbous nose, Low anterior hairline, Postaxial polydactyly, Micrognathia, Depressed nasal bridge,... |
OMIM:615761 |
Cranioectodermal Dysplasia 1 |
|
Pectus excavatum, Sparse hair, Short nail, Single transverse palmar crease, Sagittal craniosynost... |
OMIM:218330 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Deeply set eye, Slender long bones with narrow diaphyses, Abnor... |
OMIM:608154 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Pect... |
OMIM:617877 |
1Q44 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Scoliosis, Frontal bossing, Biparietal narrowing |
ORPHA:238769 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Abnormal pinna morphology, Talipes equinovarus, Sle... |
ORPHA:916 |
Weaver Syndrome |
|
Sandal gap, Abnormal metaphysis morphology, Joint stiffness, Hypoplastic toenails, Talipes equino... |
ORPHA:3447 |
Brachymetatarsus Iv |
|
Short 4th toe, Short fourth metatarsal |
OMIM:113475 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... |
ORPHA:1802 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Hypertelorism, Craniosynostosis, Camptodactyly of finger, Brachyd... |
ORPHA:3210 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Long nose, Severe platyspondyly, Short nose, Proptosis, Sacral dimple, Deeply s... |
ORPHA:508533 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Malar flattening, Short distal phalanx of toe, Microcephaly, Brac... |
ORPHA:1292 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopigmentation of hair... |
ORPHA:177910 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Conductive hearing impairment, Lumbar hyperlordosis, L... |
OMIM:100800 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Overfolded helix, Camptodactyly of f... |
ORPHA:2631 |
C Syndrome |
|
Dislocated radial head, Micrognathia, Micromelia, Scoliosis, Fused sternal ossification centers, ... |
OMIM:211750 |
Steinfeld Syndrome |
|
Abnormal pinna morphology, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the vert... |
OMIM:184705 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Dislocated radial head, Fragmented epiphys... |
ORPHA:166016 |
Yunis-Varon Syndrome |
|
Absent nipple, Absent thumb, Sparse eyebrow, Decreased calvarial ossification, Congenital hip dis... |
OMIM:216340 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Overlapping toe, Absent earlobe, Protruding ear, Prominent fingertip pads, Short fourth... |
OMIM:619557 |
Moebius Syndrome |
|
Facial diplegia, Abnormal pinna morphology, Short neck, Hand clenching, Talipes equinovarus, Micr... |
OMIM:157900 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Hypertelorism, Micrognathia, Platyspondyly, Short nec... |
ORPHA:93267 |
Mosaic Trisomy 9 |
|
Supernumerary ribs, Micrognathia, Camptodactyly of finger, Hemivertebrae, Micromelia, Finger clin... |
ORPHA:99776 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Low anterior hairline, Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Wide nasal bridge |
OMIM:617392 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Scapular exostoses, Limitation of knee mobility, Abnormal bone s... |
ORPHA:321 |
Muenke Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Plagiocephaly, Low anterior hairline, Thimble... |
OMIM:602849 |
Cornelia De Lange Syndrome 5 |
|
Hirsutism, Clinodactyly of the 5th finger, Low anterior hairline, Small hand, Micrognathia, Broad... |
OMIM:300882 |
Joubert Syndrome With Ocular Defect |
|
Scoliosis, Low-set, posteriorly rotated ears, Abnormal vertebral morphology, Hand polydactyly, Fo... |
ORPHA:220493 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Hypertelorism, Increased bone mineral density, Abnormal vertebral... |
ORPHA:90650 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metaca... |
OMIM:169400 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Platyspondyly, Short neck, Anisospondyly, Short nose, Hemiatrophy of upper limb, ... |
ORPHA:163649 |
Trisomy 4P |
|
Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Radial club hand, Camptodact... |
ORPHA:1738 |
Griscelli Syndrome, Type 1 |
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Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Deafness, X-Linked 7 |
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Thick eyebrow, Wide nasal bridge |
OMIM:301018 |
Poland Syndrome |
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Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... |
ORPHA:2911 |
Endosteal Hyperostosis, Worth Type |
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Sensorineural hearing impairment, Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form ... |
ORPHA:2790 |
Peho Syndrome |
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Biparietal narrowing, Malar flattening, Microcephaly, External ear malformation, Tapered finger, ... |
ORPHA:2836 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Nicolaides-Baraitser Syndrome |
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Hypertrichosis, Sparse hair, Sparse medial eyebrow, Dry hair, Single transverse palmar crease, Sh... |
OMIM:601358 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
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Low-set ears, Pectus excavatum, Talipes equinovarus, Hypotelorism, Osteopenia, Camptodactyly of f... |
OMIM:211920 |
Upper Limb Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
2Q37 Microdeletion Syndrome |
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Sparse scalp hair, Conductive hearing impairment, Clinodactyly of the 5th finger, Deeply set eye,... |
ORPHA:1001 |
Holzgreve Syndrome |
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Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Low-set, posteriorly... |
ORPHA:2167 |
Joubert Syndrome With Oculorenal Defect |
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Scoliosis, Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narr... |
ORPHA:2318 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Craniosynostosis, Herrmann-Opitz Type |
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Convex nasal ridge, Craniosynostosis, Micrognathia, Micromelia, Brachydactyly, Abnormal rib morph... |
ORPHA:2145 |
Atelosteogenesis Type Iii |
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Abnormality of the humerus, Hand clenching, Thoracic hypoplasia, Elbow dislocation, Patellar disl... |
ORPHA:56305 |
Ring Chromosome 6 Syndrome |
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Short distal phalanx of finger, Short neck, Wide nasal bridge, Macrotia, Hypertelorism, Low poste... |
ORPHA:1448 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Vertebral segmentation defect, Hypotelorism, Hypoplasia of the radius, Aplasia of the nose, Abnor... |
ORPHA:3186 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Prominent sternum, Platyspondyly, Short neck, Cone-shaped capital femoral epiphysis, Small epiphy... |
OMIM:300232 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
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Prominent nose, Dolichocephaly, Brachydactyly, Wide nasal bridge |
OMIM:617169 |
Ulna And Fibula, Hypoplasia Of |
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Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Hypochondroplasia |
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Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Abn... |
ORPHA:429 |
Chromosome 3Pter-P25 Deletion Syndrome |
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Overlapping toe, Bulbous nose, Trigonocephaly, Low hanging columella, Postaxial polydactyly, Doli... |
OMIM:613792 |
Nivelon-Nivelon-Mabille Syndrome |
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Narrow chest, Nail dysplasia, Distal clavicular thinning, Brachydactyly, Micromelia, Short phalan... |
OMIM:600092 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Talipes equinovarus, Micrognathia, Neonatal death, Anisospondyly, Thoracic hypoplasia, Bowing of ... |
OMIM:224410 |
Velo-Facial-Skeletal Syndrome |
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Clinodactyly of the 5th finger, Prominent fingertip pads, Abnormal thumb morphology, Large hands,... |
ORPHA:3424 |
Waardenburg Syndrome, Type 3 |
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Carpal synostosis, Premature graying of hair, Blue irides, Camptodactyly of finger, Brachydactyly... |
OMIM:148820 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Abnormal pinna morphology, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Hemivert... |
OMIM:276820 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Melanocytic nevus, Dep... |
ORPHA:1327 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Postaxial Oligodactyly, Tetramelic |
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Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
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Pectus excavatum, Broad nasal tip, Clinodactyly, Short palm, Wide nasal bridge |
ORPHA:73273 |
Distal Trisomy 5Q |
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Hypertelorism, Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Brachydact... |
ORPHA:96097 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... |
ORPHA:93316 |
Pfeiffer Syndrome Type 1 |
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Depressed nasal bridge, Broad hallux phalanx, Short hallux, Midface retrusion, Broad thumb, Short... |
ORPHA:93258 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Kyphomelic Dysplasia |
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Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... |
ORPHA:1801 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly |
OMIM:614416 |
Acrocephalopolydactyly |
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Genu recurvatum, Microtia, Short neck, Brachydactyly, Limb undergrowth, Short nose, Thoracic hypo... |
ORPHA:221054 |
Distal Monosomy 17Q |
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Abnormal hip bone morphology, Small hand, Microtia, Micromelia, Abnormal form of the vertebral bo... |
ORPHA:1597 |
Charlie M Syndrome |
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Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingernail morphology, Abnormal metacarp... |
ORPHA:1406 |
Waardenburg Syndrome, Type 2A |
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Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, White eyelashes, Synophry... |
OMIM:193510 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Pectus excavatum, Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:2511 |
Chondroectodermal Dysplasia With Night Blindness |
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Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Ost... |
ORPHA:319195 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... |
ORPHA:157965 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Forearm undergrowth, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
Muenke Syndrome |
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Carpal synostosis, Plagiocephaly, Hypermelanotic macule, Coronal craniosynostosis, Cone-shaped ep... |
ORPHA:53271 |
Pentasomy X |
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Plagiocephaly, Clinodactyly of the 5th finger, Small hand, Micrognathia, Camptodactyly of finger,... |
ORPHA:11 |
Fibrodysplasia Ossificans Progressiva |
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Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Craniosynostosis, Osteopenia, Talipes equinovalgus, Pectus carinatum, Radioulnar synostosis, Sing... |
OMIM:130070 |
Lig4 Syndrome |
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Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Brachycephaly, Biparietal narrowing |
ORPHA:99812 |
Greig Cephalopolysyndactyly Syndrome |
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Hirsutism, Craniosynostosis, Dolichocephaly, Camptodactyly of toe, Broad hallux phalanx, Wide nas... |
OMIM:175700 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Narrow chest, Low-set ears, Hypertrichosis, Flexion contracture, Short long bone, Short humerus, ... |
OMIM:619479 |
Metatropic Dysplasia |
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Narrow chest, Kyphosis, Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat... |
ORPHA:2635 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Clinodactyly of the 5th finger, Ocular albinism, Microtia, Absent radius, Cupped ear, Micrognathi... |
ORPHA:1352 |
Joubert Syndrome With Renal Defect |
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Hand polydactyly, Scoliosis, Low-set, posteriorly rotated ears, Biparietal narrowing |
ORPHA:220497 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... |
OMIM:156500 |
Fibrodysplasia Ossificans Progressiva |
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Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Clinodactyly of the 5th finger, Pectus excavatum, Convex nasal ridge, Craniosynostosis, Broad nas... |
OMIM:619451 |
Greig Cephalopolysyndactyly Syndrome |
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Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Wide nasal bridge, Postaxial h... |
ORPHA:380 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
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Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
Weill-Marchesani Syndrome 2 |
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Spinal canal stenosis, Joint stiffness, Broad metacarpals, Lumbar hyperlordosis, Thickened helice... |
OMIM:608328 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Facial diplegia, Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Micrognathia, Hip dyspl... |
OMIM:611890 |
Distal 22Q11.2 Microduplication Syndrome |
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Abnormal antihelix morphology, Protruding ear, Macrocephaly, Abnormal helix morphology, Micrognat... |
ORPHA:261337 |
Cebalid Syndrome |
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Plagiocephaly, Thick eyebrow, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed ... |
OMIM:618774 |
Acrodysostosis With Multiple Hormone Resistance |
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Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Fair hair, Blue irides, Narrow ve... |
ORPHA:280651 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormal pinna morphology, Short sternum, Talipes equinovarus, Sh... |
ORPHA:3404 |
Potocki-Shaffer Syndrome |
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Parietal foramina, Micrognathia, Depressed nasal tip, Broad nasal tip, Brachycephaly, Prominent n... |
ORPHA:52022 |
2Q32Q33 Microdeletion Syndrome |
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Clinodactyly of the 5th finger, Toe clinodactyly, Convex nasal ridge, Talipes equinovarus, Sparse... |
ORPHA:251019 |
Trisomy 18-Like Syndrome |
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Micrognathia, Wide nasal bridge |
OMIM:601161 |
Orofaciodigital Syndrome Xi |
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Bulbous nose, Hypoplasia of the odontoid process, Wide nasal bridge, Postaxial polydactyly |
OMIM:612913 |
Hidrotic Ectodermal Dysplasia |
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Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Craniosynostosis 2 |
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Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro... |
OMIM:604757 |
Schwartz-Jampel Syndrome, Type 1 |
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Overfolded helix, Quadriceps muscle weakness, Platyspondyly, Short neck, Congenital hip dislocati... |
OMIM:255800 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Spondylometaphyseal Dysplasia, Axial |
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Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Platyspondyly, Sco... |
OMIM:602271 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Protruding ear, Clinodactyly of the 5th finger, Biparietal narrowing, Low-set, posteriorly rotate... |
ORPHA:2031 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... |
OMIM:601668 |
Camurati-Engelmann Disease |
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Abnormality of femur morphology, Abnormality of the humerus, Genu valgum, Proptosis, Hypogonadism... |
ORPHA:1328 |
Chromosome 16P13.3 Duplication Syndrome |
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Short toe, Protruding ear, Pectus excavatum, Pes cavus, Short phalanx of finger, Tapered finger, ... |
OMIM:613458 |
Focal Dermal Hypoplasia |
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Sparse hair, Congenital hip dislocation, Umbilical hernia, Midclavicular aplasia, Diastasis recti... |
OMIM:305600 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
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Plagiocephaly, Clinodactyly of the 5th finger, Depressed nasal ridge, Small hand, Dolichocephaly,... |
OMIM:618672 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
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Dense metaphyseal bands, Osteopenia, Sensorineural hearing impairment, Slender long bones with na... |
ORPHA:50811 |
Pseudodiastrophic Dysplasia |
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Brachycephaly, Talipes equinovarus, Micrognathia, Camptodactyly, Phalangeal dislocation, Rhizomel... |
OMIM:264180 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
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Clinodactyly of the 5th finger, Microtia, first degree, Cupped ear, Micrognathia, Wide nasal brid... |
OMIM:600123 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Thickened ribs, Craniofacial hyperostosis, Diaphyseal sclerosis, Depressed nasal bridge, Choanal ... |
OMIM:122860 |
Cleidocranial Dysplasia, Recessive Form |
|