| Ulnar Hemimelia |
|
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... |
ORPHA:93320 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... |
OMIM:601376 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus |
OMIM:600121 |
| Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... |
OMIM:607778 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Hypoplasia of the ulna, Flexion contracture, Valgus hand deformity, Fibular hypopl... |
OMIM:200700 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... |
ORPHA:2019 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... |
ORPHA:75508 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... |
OMIM:191440 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limitation of... |
OMIM:619598 |
| Congenital Radioulnar Synostosis |
|
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... |
ORPHA:3269 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... |
ORPHA:93388 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement |
OMIM:276821 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... |
ORPHA:85188 |
| Achondrogenesis, Type Ia |
|
Hypoplastic ischia, Short ribs, Hypoplasia of the radius, Hypoplastic scapulae, Decreased skull o... |
OMIM:200600 |
| Omodysplasia 2 |
|
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... |
OMIM:164745 |
| Schneckenbecken Dysplasia |
|
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... |
OMIM:269250 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... |
OMIM:249600 |
| Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... |
OMIM:127300 |
| Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... |
OMIM:601560 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... |
ORPHA:2141 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... |
ORPHA:1972 |
| Arms, Malformation Of |
|
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius |
OMIM:107900 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... |
OMIM:601438 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:1856 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Flexion contracture, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic s... |
OMIM:602471 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Joint stiffness, Hypoplasia of the radius, Elbow dislocation, Metatarsus ... |
ORPHA:2249 |
| Spondyloperipheral Dysplasia |
|
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... |
OMIM:271700 |
| Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Short metacarpal, Hypoplastic acetabul... |
OMIM:607326 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasia, Micrognathia |
OMIM:277150 |
| Holt-Oram Syndrome |
|
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... |
OMIM:142900 |
| Thanatophoric Dysplasia, Type Ii |
|
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... |
OMIM:187601 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... |
OMIM:250215 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... |
OMIM:171480 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly |
OMIM:314360 |
| Langer Mesomelic Dysplasia |
|
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... |
OMIM:249700 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short 5th finger, Hy... |
OMIM:227270 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Hypoplastic il... |
OMIM:223800 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormality of the ulna, Joint stiffness, Abnormality of ulnar metaphys... |
ORPHA:1040 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormality of pelvic girdle bone morphology, Osteopenia, Flexion contracture, Rhizomelia, Microg... |
OMIM:222765 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... |
OMIM:616716 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Fibrochondrogenesis 1 |
|
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... |
OMIM:228520 |
| Acheiropodia |
|
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... |
ORPHA:931 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... |
ORPHA:2634 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neon... |
OMIM:187600 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Hypop... |
ORPHA:85166 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... |
ORPHA:2878 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... |
OMIM:210720 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Micrognathia, Joint hypermobility, Hypoplastic distal ... |
OMIM:602196 |
| Acheiropody |
|
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... |
OMIM:200500 |
| Pelviscapular Dysplasia |
|
Brachydactyly, Abnormality of the joint spaces of the elbow, Congenital hip dislocation, Hypoplas... |
ORPHA:93333 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... |
ORPHA:2491 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... |
ORPHA:440354 |
| Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... |
ORPHA:2831 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... |
OMIM:186500 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Narrow chest, Brachydactyly, Short metatars... |
OMIM:108720 |
| Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... |
OMIM:609441 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly |
OMIM:212780 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly |
OMIM:228940 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... |
ORPHA:1505 |
| Crane-Heise Syndrome |
|
Toe syndactyly, Finger syndactyly, Joint stiffness, Aplastic clavicle, Hypoplastic scapulae, Decr... |
ORPHA:1512 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
| Cousin Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Hypoplastic pubic bone, 2-3... |
OMIM:260660 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Hypoplasia of the ulna, Short femoral neck, Dislocated radial head, Joi... |
OMIM:618395 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Short metacarpal, Lateral clavicle hook, Tibial bowing, Undulate ribs, Dumb... |
OMIM:211350 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short tibia, Short ... |
OMIM:612447 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... |
OMIM:619135 |
| Ivic Syndrome |
|
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... |
OMIM:147750 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... |
OMIM:614900 |
| Fibrochondrogenesis |
|
Brachydactyly, Short ribs, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Broad rib... |
ORPHA:2021 |
| Acrodysostosis |
|
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... |
ORPHA:950 |
| Cleidocranial Dysplasia |
|
Brachydactyly, Abnormal thumb morphology, Hypoplastic inferior ilia, Abnormality of pelvic girdle... |
ORPHA:1452 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Coxa valga, Joint stiffness, Clinodactyly of the 5th finger, Abnormality ... |
ORPHA:2557 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Absent thumb, Bilateral talipes equinovarus, Hypoplastic scapulae, Hypoplastic pelvis, Short clav... |
OMIM:618022 |
| Heart-Hand Syndrome Type 2 |
|
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Asymmetry of the t... |
ORPHA:1350 |
| Autosomal Dominant Omodysplasia |
|
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Short humerus, Short 1st metacarpal |
ORPHA:93328 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hypoplastic ischia, Thoracic kyphosis, Hypoplastic sacrum, Short femoral neck, Cone-shaped epiphy... |
OMIM:304950 |
| Acro-Renal-Mandibular Syndrome |
|
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Thin ribs, Hypoplastic scapulae, H... |
ORPHA:958 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... |
OMIM:600785 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Brachydactyly, Bowing of the long bones, Short long bone, Short ribs, Thoracic dysplasia, Narrow ... |
OMIM:614091 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... |
ORPHA:2256 |
| Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... |
ORPHA:79106 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Prominent deltoid tuberosities, Short femoral neck, Short ribs, Rhizomelia, Short humerus, Short ... |
OMIM:610319 |
| Campomelic Dysplasia |
|
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Recurrent fractures, Fibular... |
ORPHA:140 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... |
OMIM:169550 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... |
OMIM:608571 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, M... |
OMIM:609052 |
| Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Dislocated radial head, Lateral clavicle hook, Slender metacarpals, Thin ribs, ... |
OMIM:600920 |
| 3M Syndrome |
|
Hypoplastic ischia, Horizontal ribs, Hypoplastic pubic bone, Hypoplasia of the ulna, Short thorax... |
ORPHA:2616 |
| Cleidocranial Dysplasia |
|
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... |
OMIM:119600 |
| Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... |
ORPHA:3258 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... |
ORPHA:52056 |
| Boomerang Dysplasia |
|
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... |
ORPHA:1263 |
| Schneckenbecken Dysplasia |
|
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Later... |
ORPHA:3144 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... |
ORPHA:85170 |
| Osteoglophonic Dysplasia |
|
Bowing of the long bones, Craniosynostosis, Short palm, Short metacarpal, Rhizomelia, Broad palm,... |
OMIM:166250 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Aplasia of the 3rd finger, Absent radius, Aplasia of the 5th finger, Elbo... |
OMIM:181450 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... |
ORPHA:1275 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Clinodactyly, Hypoplasia of the ulna, Micrognathia |
ORPHA:357175 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
| Campomelic Dysplasia |
|
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... |
OMIM:114290 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Melnick-Needles Syndrome |
|
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Hypoplastic scapul... |
OMIM:309350 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Latera... |
OMIM:239000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... |
OMIM:609945 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Clinodactyly, Hypoplasia of the ulna, Micrognathia |
OMIM:615162 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Micrognathia, Camptodactyly ... |
ORPHA:246 |
| Mucolipidosis Ii Alpha/Beta |
|
Carpal bone hypoplasia, Osteopenia, Flared iliac wing, Thoracolumbar kyphoscoliosis, Split hand, ... |
OMIM:252500 |
| Acrorenal-Mandibular Syndrome |
|
Rudimentary fibula, Toe syndactyly, Hypoplasia of the ulna, Foot polydactyly, Missing ribs, Thin ... |
OMIM:200980 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... |
OMIM:602613 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Congenital hip dislo... |
OMIM:308050 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Talipes... |
OMIM:607143 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Abse... |
OMIM:613091 |
| Postaxial Oligodactyly, Tetramelic |
|
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... |
OMIM:176240 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... |
ORPHA:93314 |
| Ophthalmomandibulomelic Dysplasia |
|
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Radioulnar disloca... |
ORPHA:2741 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... |
OMIM:602111 |
| W Syndrome |
|
Clinodactyly, Hypoplasia of the ulna, Elbow dislocation, Metatarsus adductus, Cubitus valgus, Cam... |
ORPHA:2804 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... |
ORPHA:93307 |
| Thalidomide Embryopathy |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... |
ORPHA:3312 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Pseudoarthrosis, Short tibia |
OMIM:156230 |
| Pallister W Syndrome |
|
Clinodactyly, Hypoplasia of the ulna, Metatarsus adductus, Cubitus valgus, Camptodactyly, Radial ... |
OMIM:311450 |
| Gollop-Wolfgang Complex |
|
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... |
OMIM:183849 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... |
OMIM:617604 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... |
OMIM:208500 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... |
ORPHA:93351 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Brachydactyly, Radial club hand, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Broad... |
ORPHA:1278 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Micromelia, Hypoplastic scapulae |
ORPHA:79107 |
| Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Rhizomelia, Elbow dislocation, Micrognathia, Abnormality of the radius, Abnorma... |
ORPHA:93329 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Abnormality of the hand, Abnormal rib morphology, Narrow chest, Brachydactyly, Bowi... |
ORPHA:95699 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... |
ORPHA:959 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Proximal placement of thumb, Hand polydactyly, Absent radius, Short humerus |
OMIM:314390 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... |
OMIM:600081 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Vertebral hypoplasia, Absent radius, Ulnar deviation of the wrist, Laryngotracheo... |
ORPHA:56305 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... |
OMIM:607323 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip osteoarthritis, Short femoral neck, Broad radial metaphysis, Wide distal femoral metaphysis, ... |
ORPHA:99642 |
| Dystonia, Juvenile-Onset |
|
Hypoplastic scapulae |
OMIM:607371 |
| Short-Rib Thoracic Dysplasia 12 |
|
Brachydactyly, Bowing of the legs, Bowing of the arm, Horizontal ribs, Short palm, Short thorax, ... |
OMIM:269860 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... |
ORPHA:3320 |
| Fibular Hemimelia |
|
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... |
ORPHA:93323 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... |
ORPHA:411593 |
| Panner Disease |
|
Large elbow, Limited elbow extension, Stiff elbow, Abnormality of upper limb joint, Abnormality o... |
ORPHA:97336 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... |
OMIM:271650 |
| Distal Trisomy 5Q |
|
Brachydactyly, Absent thumb, Hypoplasia of the ulna, Craniosynostosis, Hypoplasia of the radius, ... |
ORPHA:96097 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Abse... |
OMIM:218600 |
| Occipital Horn Syndrome |
|
Coxa valga, Joint laxity, Osteoporosis, Limited knee extension, Pectus excavatum, Limited elbow e... |
OMIM:304150 |
| Acromesomelic Dysplasia 1 |
|
Lower thoracic kyphosis, Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short... |
OMIM:602875 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Proximal radial head dis... |
OMIM:602418 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... |
ORPHA:2639 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... |
ORPHA:3344 |
| Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Elbow... |
OMIM:164900 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Nonopposable triphalangeal thumb, Hypoplasia of the radius |
OMIM:179250 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Micrognathia, Micromelia, Large hands, Hip dislocation, Brachydactyly, Flexion ... |
OMIM:210710 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Abnormality of the... |
ORPHA:96334 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Osteoporosis, Osteopenia, Pectus excavatum |
OMIM:615398 |
| Cranioectodermal Dysplasia 1 |
|
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... |
OMIM:218330 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia |
OMIM:146350 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Cono-Spondylar Dysplasia |
|
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short 4th toe, Short humerus, ... |
ORPHA:420794 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... |
ORPHA:1352 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Madelung deformity, Lower limb underg... |
ORPHA:314795 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Radiou... |
ORPHA:2319 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the radius, Microg... |
OMIM:263750 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia |
ORPHA:2252 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Distally placed thumb, Small thenar eminence, Hypoplasia of the radius, Short thumb |
OMIM:179270 |
| Omodysplasia 1 |
|
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited knee ex... |
OMIM:258315 |
| Codas Syndrome |
|
Delayed ossification of carpal bones, Absent epiphyses, Short metacarpal, Hypoplasia of the odont... |
OMIM:600373 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Hypoplasia of the ulna, Absent radius, Clinodactyly of the 5th finger, Micrognathia, Aplasia of t... |
OMIM:600123 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shoulder dislocation, Deviation of the 5th finger, Genu valgum, Brachydactyly, Flexion contractur... |
OMIM:143095 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Micrognathia, Radioulnar s... |
OMIM:134780 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Hypoplastic ischia, Horizontal ribs, Aplastic pubic bones,... |
ORPHA:3003 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal form of the vertebral bod... |
ORPHA:93160 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... |
OMIM:241530 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... |
ORPHA:83468 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia |
OMIM:306000 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... |
ORPHA:1836 |
| Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Absent palmar crease, Flexion contracture, Absent radius, Short metacarpal, Short p... |
OMIM:263650 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent radius, Oligodactyly, Micrognathia, Abnormal rib morphology, Micromelia,... |
OMIM:251230 |
| Dyschondrosteosis And Nephritis |
|
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing |
OMIM:127350 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius |
ORPHA:3469 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... |
OMIM:184253 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Brachydactyly, Flexion contracture, Trident pelvis, Short humerus, Short long bone, Thoracic hypo... |
OMIM:619479 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis |
OMIM:156232 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Sparse bone trabeculae, Recurren... |
OMIM:300554 |
| Osteomalacia, sclerosing, with cerebral calcification |
|
Generalized osteosclerosis, Congenital microthorax, Increased bone mineral density, Osteomalacia |
OMIM:259660 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... |
ORPHA:3035 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral jun... |
OMIM:264700 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... |
OMIM:617866 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Oligodactyly, Mesom... |
ORPHA:2756 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... |
OMIM:307800 |
| Holt-Oram Syndrome |
|
Absent thumb, Finger syndactyly, Phocomelia, Joint stiffness, Triphalangeal thumb, Down-sloping s... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Micr... |
OMIM:617895 |
| Multiple Osteochondromas |
|
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... |
ORPHA:321 |
| Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, 11 pairs of ribs, Congenital hip ... |
OMIM:117650 |
| Steinfeld Syndrome |
|
Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia of ... |
OMIM:184705 |
| Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... |
OMIM:304120 |
| Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Short thumb, Metaphyseal... |
ORPHA:2909 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly |
OMIM:276822 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Ulbright-Hodes Syndrome |
|
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short metacarpal, Short ribs, Thin r... |
ORPHA:3404 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... |
ORPHA:1788 |
| X-Linked Hypophosphatemia |
|
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Flattening of the talar dome, Genu ... |
ORPHA:89936 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly |
OMIM:228250 |
| Brachymesomelia-Renal Syndrome |
|
Single transverse palmar crease, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulna... |
OMIM:113470 |
| Ivic Syndrome |
|
Synostosis of carpal bones, Joint stiffness, Triphalangeal thumb, Aplastic clavicle, Hypoplasia o... |
ORPHA:2307 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Micrognathia, Abnormal rib morphology, Sh... |
ORPHA:52 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Shallow acetabular fossae, Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar syn... |
OMIM:605432 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Micrognathia... |
ORPHA:3098 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... |
OMIM:300106 |
| Osteogenesis Imperfecta, Type Viii |
|
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... |
OMIM:610915 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral jun... |
OMIM:277440 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Foot polydactyly, Phocomelia, Missing ribs, Aplasia/Hypoplasia of the thu... |
ORPHA:3186 |
| Nail-Patella Syndrome |
|
Thickening of the lateral border of the scapula, Iliac horns, Disproportionate prominence of the ... |
OMIM:161200 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Hypoplasia of the radius, Short thumb |
OMIM:613390 |
| Sc phocomelia syndrome |
|
Clinodactyly, Phocomelia, Absent radius, Short thumb, Micrognathia, Knee flexion contracture, Apl... |
OMIM:269000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Tibial torsion, Hip ... |
OMIM:274000 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... |
OMIM:276820 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Prominent deltoid tuberosities, Sandal gap, Short toe, Genu valgum, Thoracic scoliosi... |
OMIM:619636 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Brachydactyly, Short metacarpal, Rhizomelic arm shortening, Abnormal thorax morphology, Short hum... |
ORPHA:508542 |
| Occipital Horn Syndrome |
|
Osteoporosis, Osteomalacia, Narrow chest, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, B... |
ORPHA:198 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Enlargement of the costochondral junction, Sparse bone trabeculae, Enlargement of the... |
ORPHA:289157 |
| Trisomy 4P |
|
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly |
ORPHA:1738 |
| Al-Gazali Syndrome |
|
Bilateral talipes equinovarus, Osteopenia, Recurrent fractures, Micrognathia, Broad distal phalan... |
OMIM:609465 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Growth delay, Osteomalacia, Short stature, Increase... |
ORPHA:157215 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... |
OMIM:119100 |
| Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Rickets |
OMIM:615605 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hypoplasia ... |
ORPHA:2879 |
| Dent Disease 1 |
|
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Sparse bone trabeculae, Recurren... |
OMIM:300009 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hypoplasia of the ulna, Hand oligodactyly, Phocomelia, Hypoplasia of the radius |
OMIM:156810 |
| Yunis-Varon Syndrome |
|
Clinodactyly, Decreased calvarial ossification, Absent middle phalanx of 2nd finger, Absent stern... |
OMIM:216340 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets |
OMIM:241520 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... |
OMIM:135750 |
| Nager Syndrome |
|
Joint stiffness, Phocomelia, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Hypoplasia of ... |
ORPHA:245 |
| Atelosteogenesis, Type Iii |
|
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Tibial bowing, Rhizomelia, Elbow dislocat... |
OMIM:108721 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint stiffness, Coxa valga, Severe short stature, Osteoporosis, Osteomalacia, Scolio... |
ORPHA:1901 |
| Rhyns Syndrome |
|
Brachydactyly, Osteopenia, Radial bowing, Short femoral neck |
OMIM:602152 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... |
ORPHA:2378 |
| Seckel Syndrome 1 |
|
Hypoplasia of proximal radius, Single transverse palmar crease, Elbow flexion contracture, Cone-s... |
OMIM:210600 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Rickets, Osteomalacia |
ORPHA:89937 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Bowed forearm bones, Absent radius, Forearm undergrowth |
OMIM:602200 |
| Fibrous Dysplasia Of Bone |
|
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... |
ORPHA:249 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metaca... |
OMIM:617247 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... |
ORPHA:289176 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Cupped ribs, Carpal synostosis, 11 pairs of ribs, Osteoporosis, Micrognathia, Abnormal rib cage m... |
OMIM:271640 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Osteopenia, Multiple prenatal fractures, Short ribs, Decreased fibular diame... |
OMIM:616897 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... |
OMIM:262190 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Phocomelia, Short sternum, Short metacarpal, Short ribs, Thin ribs, Hypoplasia of the radius, Mic... |
OMIM:266910 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture, Elbow flexion contracture, Hypoplastic scapulae, Long fingers, Flexion contr... |
OMIM:256040 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Boomerang Dysplasia |
|
Neonatal death, Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
| Fanconi Anemia |
|
Toe syndactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormal thumb morphology, Finge... |
ORPHA:84 |
| Infantile Systemic Hyalinosis |
|
Brachydactyly, Joint stiffness, Osteopenia, Recurrent fractures, Short palm, Severe short stature... |
ORPHA:2176 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Abnormal clavicle morphology, Abnormality of the radius, ... |
ORPHA:3138 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Short femur, Short humerus, Polydactyly |
ORPHA:17 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... |
ORPHA:3472 |
| Tibial Hemimelia |
|
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... |
ORPHA:93322 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Clinodactyly, Toe syndactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triph... |
OMIM:154400 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth |
OMIM:276950 |
| Sheldon-Hall Syndrome |
|
Abnormal hip bone morphology, Joint stiffness, Overlapping fingers, Micrognathia, Adducted thumb,... |
ORPHA:1147 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Ulnar bowing, Micromelia, Radial bowing, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
| Roberts Syndrome |
|
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Mesomelic arm shortening, Brachydactyly... |
ORPHA:3103 |
| Tarp Syndrome |
|
Clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, Short sternum, Hypoplasia of... |
OMIM:311900 |
| Tetrasomy 9P |
|
Missing ribs, Aplasia/Hypoplasia of the clavicles, Clinodactyly of the 5th finger, Hypoplastic sc... |
ORPHA:3310 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Long toe, Thin ribs, Large hands, Micrognathia, Long fingers, Short humerus,... |
OMIM:264090 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... |
OMIM:146300 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Abnormality of radial ray, Hypoplasia of the radius |
OMIM:617784 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... |
OMIM:268305 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Short thumb, Fused cervical vertebrae, Short 1st metacarpal |
OMIM:609053 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker bottom foot, U... |
OMIM:207410 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
| Tetraploidy |
|
Radial club hand, Micrognathia |
ORPHA:3305 |
| Fanconi Renotubular Syndrome 2 |
|
Short stature, Osteopenia, Rickets |
OMIM:613388 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Finger symphalangism, Missing ribs, A... |
ORPHA:2911 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Failure to thrive, Rickets |
OMIM:602722 |
| Fanconi Anemia, Complementation Group P |
|
Absent thumb, Hypoplasia of the radius, Short thumb, Micrognathia |
OMIM:613951 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormality of the radius |
ORPHA:2165 |
| Marshall Syndrome |
|
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Irregular proxim... |
OMIM:154780 |
| Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
| Dent Disease |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... |
ORPHA:1652 |
| Radial-Renal Syndrome |
|
Absent thumb, Absent radius |
OMIM:179280 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Postaxial foot polydactyly, Abnormal thorax morphology, Aplasia/Hypoplasia of the tibia, Talipes ... |
OMIM:601027 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin long bone diaphyses, Osteopenia, 2-3 toe syndactyly, Long toe, Hypoplastic vertebral bodies,... |
ORPHA:3455 |
| Radio-Renal Syndrome |
|
Brachydactyly, Short palm, Hypoplasia of the radius, Micrognathia, Abnormal rib morphology, Micro... |
ORPHA:3015 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Short stature, Failure to thrive, Osteopenia, Rickets |
OMIM:211600 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Brachydactyly, Carpal synostosis, Abnormality of pelvic girdle bone morphology, Block vertebrae, ... |
OMIM:272460 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Failure to thrive, Rickets |
OMIM:611590 |
| Lacrimoauriculodentodigital Syndrome |
|
Small thenar eminence, Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal thumbs, Cli... |
OMIM:149730 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal distal phalanx morphology of finger, Clinodactyly of the 5th finger, Osteoporosis, Micro... |
ORPHA:2636 |
| Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Platyspondyly, Joint hypermobility, Osteomalacia, Elevated amniotic fluid alpha-fetopro... |
OMIM:309000 |
| Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
| Duane Retraction Syndrome |
|
Brachydactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Abnormal vertebral segmentation an... |
ORPHA:233 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Hypoplasia of the radius |
ORPHA:3016 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... |
ORPHA:83451 |
| Fanconi Renotubular Syndrome 1 |
|
Short stature, Rickets, Osteomalacia |
OMIM:134600 |
| Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Osteopenia, Growth delay, Failure to thrive, Rickets |
ORPHA:2088 |
| Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hypoplasia of the ulna, Abnormal rib morphology |
OMIM:118450 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Cornelia De Lange Syndrome 1 |
|
Supernumerary ribs, Single transverse palmar crease, 2-3 toe syndactyly, Hand oligodactyly, Short... |
OMIM:122470 |
| Charge Syndrome |
|
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... |
OMIM:214800 |
| Neu-Laxova Syndrome |
|
Flexion contracture, Osteopenia, Intrauterine growth retardation, Osteoporosis, Osteomalacia, Mic... |
ORPHA:2671 |
| Cystinosis |
|
Failure to thrive, Short stature, Delayed puberty, Rickets |
ORPHA:213 |
| Hypophosphatemic Rickets |
|
Bowing of the long bones, Joint stiffness, Abnormal lower limb bone morphology, Fibrous dysplasia... |
ORPHA:437 |
| Tarp Syndrome |
|
Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Single transverse palmar crease, ... |
ORPHA:2886 |
| Rothmund-Thomson Syndrome Type 2 |
|
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... |
ORPHA:221016 |
| Diamond-Blackfan Anemia 1 |
|
Absent thumb, 11 pairs of ribs, Partial duplication of thumb phalanx, Triphalangeal thumb, Short ... |
OMIM:105650 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Hypoplasia of the radius, Short thumb, 2-3 finger syndactyly |
OMIM:603467 |
| Mccune-Albright Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Osteomalacia,... |
ORPHA:562 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Rothmund-Thomson Syndrome Type 1 |
|
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... |
ORPHA:221008 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rachitic rosary, Rickets |
OMIM:612089 |
| Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Osteoporosis, Failure to thrive, Short stature, Postnatal growth retardation, Delaye... |
OMIM:212750 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Failure to thrive, Rickets |
ORPHA:79303 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Short stature, Rickets |
OMIM:616026 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Growth delay, Osteomalacia, Weight loss, Rickets |
ORPHA:309031 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Osteomalacia |
OMIM:227810 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Intrauterine growth retardation, Small for gestational age, Slender build, Joint laxi... |
OMIM:613658 |
| Wilson Disease |
|
Joint hypermobility, Osteoarthritis, Osteoporosis, Osteomalacia |
OMIM:277900 |
| Vater/Vacterl Association |
|
Absent radius, Preaxial polydactyly, Triphalangeal thumb, Short thumb, Hypoplasia of the radius, ... |
OMIM:192350 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia |
ORPHA:3412 |
| Mosaic Trisomy 16 |
|
Clinodactyly, Single transverse palmar crease, Short femoral neck, Short thumb, Abnormal thorax m... |
ORPHA:1708 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Clinodactyly, Abnormal thumb morphology, Toe syndactyly, Finger syndactyly, Short t... |
ORPHA:2363 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Growth delay, Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Mirage Syndrome |
|
Radial club hand, Overlapping fingers, Talipes equinovarus, Rocker bottom foot |
OMIM:617053 |
| Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Growth delay, Osteomalacia, Short stature, Failure to thri... |
ORPHA:18 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the radius, Toe syndactyly |
ORPHA:140952 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Joint stiffness, Recurrent fractures, Abnormality of epiphysis morphology, Delayed puberty, Kypho... |
ORPHA:534 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Brachydactyly, Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Fi... |
ORPHA:444077 |
| Cystinosis, Nephropathic |
|
Weight loss, Failure to thrive in infancy, Delayed puberty, Hypophosphatemic rickets, Growth dela... |
OMIM:219800 |
| Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Joint stiffness, Rocker bottom foot, Overlapping fingers, Adducted ... |
ORPHA:1146 |
| Infantile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Rickets |
ORPHA:411629 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Increased susceptibility to fractures, Growth delay, Osteomalacia, Weig... |
ORPHA:3337 |
| Pallister-Hall Syndrome |
|
Brachydactyly, Broad toe, Polydactyly affecting the 3rd finger, Toe syndactyly, Mesoaxial polydac... |
ORPHA:672 |
| Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Abnormal calcification of the carpal bones, Hypophosphatemic ricket... |
ORPHA:51608 |
| Arthrogryposis, Distal, Type 2B1 |
|
Distal arthrogryposis, Calcaneovalgus deformity, Rocker bottom foot, Metatarsus adductus, Short s... |
OMIM:601680 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hy... |
OMIM:619381 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
