| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla... |
OMIM:200700 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... |
OMIM:191440 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv... |
ORPHA:75508 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... |
OMIM:619598 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... |
ORPHA:93388 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia |
OMIM:276821 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... |
OMIM:112910 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... |
OMIM:127300 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... |
OMIM:249600 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... |
OMIM:602471 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu... |
ORPHA:2249 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... |
OMIM:200600 |
| Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Fl... |
OMIM:269250 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Smith-Mccort Dysplasia 1 |
|
Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic acetabulae, Limitation of join... |
OMIM:607326 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr... |
OMIM:227270 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr... |
OMIM:616716 |
| Van Bogaert-Hozay Syndrome |
|
Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand |
OMIM:277150 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... |
OMIM:187601 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J... |
ORPHA:1040 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... |
OMIM:271700 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... |
ORPHA:85166 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... |
ORPHA:440354 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... |
OMIM:228520 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna |
ORPHA:1122 |
| Osseous Heteroplasia, Progressive |
|
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth |
OMIM:166350 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... |
OMIM:602196 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Lon... |
OMIM:210720 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... |
ORPHA:2491 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bilateral talipes ... |
OMIM:618022 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Pelviscapular Dysplasia |
|
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Congen... |
ORPHA:93333 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... |
ORPHA:2878 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Pseudoachondroplasia |
|
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... |
ORPHA:750 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... |
ORPHA:52056 |
| Atelosteogenesis, Type I |
|
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... |
OMIM:108720 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Multiple Synostoses Syndrome 1 |
|
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec... |
OMIM:186500 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ... |
ORPHA:1512 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... |
ORPHA:174 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth |
OMIM:218650 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T... |
OMIM:211350 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... |
OMIM:187600 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ... |
ORPHA:950 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Eiken Syndrome |
|
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Short stature, E... |
ORPHA:79106 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... |
OMIM:618395 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:1452 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... |
OMIM:612447 |
| Van Den Ende-Gupta Syndrome |
|
Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met... |
OMIM:600920 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... |
ORPHA:2557 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pectus excavatum, Microg... |
OMIM:212780 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... |
OMIM:619135 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... |
OMIM:600785 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... |
ORPHA:2021 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Finger syndactyly... |
ORPHA:958 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Narrow chest, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long ... |
OMIM:614091 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder m... |
ORPHA:1350 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost... |
OMIM:614900 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Elbow dislocation |
ORPHA:93328 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... |
OMIM:169550 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| 3M Syndrome |
|
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... |
ORPHA:2616 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... |
OMIM:609052 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... |
OMIM:164745 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo... |
ORPHA:1426 |
| Cousin Syndrome |
|
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... |
OMIM:260660 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Narrow ... |
ORPHA:140 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, ... |
OMIM:222765 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... |
ORPHA:3144 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynostosis, Rhizomelia, ... |
OMIM:166250 |
| Boomerang Dysplasia |
|
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... |
ORPHA:1263 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Joint sti... |
ORPHA:1275 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndact... |
OMIM:308050 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... |
ORPHA:246 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Stillbirth, Genu valgum, Osteolytic defects of the phalanges of the hand... |
OMIM:309350 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... |
ORPHA:1570 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Bowing of the long bones, Osteop... |
OMIM:239000 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Stiff elbow, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Apl... |
OMIM:181450 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... |
ORPHA:93351 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Femoral ... |
OMIM:613091 |
| Thalidomide Embryopathy |
|
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... |
ORPHA:3312 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Narrow chest, Thin ribs, Elbow flexion contract... |
OMIM:200980 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... |
OMIM:602418 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... |
OMIM:114290 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th... |
OMIM:142900 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Sp... |
ORPHA:1788 |
| W Syndrome |
|
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bowing, Elbow ... |
ORPHA:2804 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Femoral retroversion, Hypoplastic scapulae, Micromelia |
ORPHA:79107 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... |
OMIM:271650 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... |
OMIM:208500 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... |
ORPHA:2741 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia... |
ORPHA:3320 |
| Mucolipidosis Ii Alpha/Beta |
|
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang... |
OMIM:252500 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Fu... |
OMIM:607323 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... |
ORPHA:429 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,... |
ORPHA:2839 |
| Autosomal Recessive Omodysplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ... |
ORPHA:93329 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... |
ORPHA:166002 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Beaking of vertebral bodies, Disproportionate short stature, Mesome... |
OMIM:609616 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... |
ORPHA:3344 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Narrow chest, Short thorax, Short ribs, Short long bone, Horizontal ribs, Short pal... |
OMIM:269860 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... |
ORPHA:2635 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... |
OMIM:617604 |
| Dystonia-Deafness Syndrome 1 |
|
Femoral retroversion, Hypoplastic scapulae |
OMIM:607371 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Thoracolumbar kyphosis, Epiphyseal stippling of... |
ORPHA:56305 |
| Rhizomelic Chondrodysplasia Punctata |
|
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... |
ORPHA:177 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... |
ORPHA:314795 |
| Radial Hemimelia |
|
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... |
ORPHA:93321 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... |
ORPHA:1423 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Severe short stature, Platyspondyly |
ORPHA:168555 |
| Ring Chromosome 4 Syndrome |
|
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... |
ORPHA:1447 |
| Acromesomelic Dysplasia 1 |
|
Limited elbow extension, Hypoplasia of the radius, Broad finger, Thoracolumbar kyphosis, Short me... |
OMIM:602875 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Absent thumb, Brachydactyly, Cran... |
ORPHA:96097 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Disproportionate short-limb short stature, Short stature, Limb undergrow... |
ORPHA:156728 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Proportionate short stature, Micromelia, Osteoarthritis, Abnormal epiphysis morpho... |
ORPHA:93283 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... |
OMIM:600081 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Increased bone mineral density, Short stature, Limb undergrowt... |
ORPHA:2204 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Metaphys... |
ORPHA:93352 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... |
OMIM:184260 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... |
ORPHA:2632 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... |
ORPHA:411593 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn... |
ORPHA:3104 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Lumbar platyspondyly, Short ribs, Short long bone, Coarse metaphysea... |
OMIM:618961 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... |
ORPHA:420794 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... |
ORPHA:96334 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... |
OMIM:607143 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Proximal placement of thumb, Hand polydactyly, Neonatal death, Short humerus, Absent radius |
OMIM:314390 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Vertebral compression fracture, Flared metaphysis, Delayed epiphyse... |
OMIM:602557 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Anterior tibial bowing, Dislocated ... |
OMIM:605274 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... |
OMIM:164900 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short ... |
ORPHA:63446 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Aplasia ... |
ORPHA:1352 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Oligodactyly, Missing ribs, Micromelia, Humeroradial synostosis, Forearm undergrowt... |
OMIM:251230 |
| Panner Disease |
|
Limited elbow extension, Limited elbow movement, Stiff elbow, Irregular articular surfaces of the... |
ORPHA:97336 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Pectus excavatum, Congenital hip dislocation, M... |
OMIM:263750 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab... |
ORPHA:2319 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Pectus excavatum, Osteoporosis |
OMIM:615398 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,... |
OMIM:600373 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... |
OMIM:143095 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sci... |
OMIM:256050 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot |
OMIM:611263 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... |
OMIM:304150 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... |
ORPHA:93296 |
| Thoracomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... |
ORPHA:1803 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... |
ORPHA:93307 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Broad distal phalanges ... |
OMIM:218330 |
| Omodysplasia 1 |
|
Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Fibular... |
OMIM:258315 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence |
OMIM:179270 |
| Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Flat acetabular roof, Bowi... |
ORPHA:1801 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... |
ORPHA:93314 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... |
ORPHA:168549 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... |
OMIM:307800 |
| Pyknoachondrogenesis |
|
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short... |
ORPHA:3003 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v... |
ORPHA:93160 |
| Coxoauricular Syndrome |
|
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... |
ORPHA:1508 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Platyspondyly, Micromelia, Joint stiffness, Abnormal cartilage mo... |
ORPHA:296 |
| Bartsocas-Papas Syndrome 1 |
|
Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Hypoplastic scapulae, Short... |
OMIM:263650 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... |
OMIM:300863 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del... |
OMIM:241530 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Narrow chest, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Trident pelvis,... |
OMIM:619479 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow f... |
OMIM:616809 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... |
ORPHA:83468 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... |
OMIM:614078 |
| Odontochondrodysplasia |
|
Abnormal metaphysis morphology, Square pelvis bone, Scoliosis, Bowing of the long bones, Micromel... |
ORPHA:166272 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... |
OMIM:602111 |
| Otospondylomegaepiphyseal Dysplasia |
|
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... |
ORPHA:1427 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... |
ORPHA:628 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... |
ORPHA:1836 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
| Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li... |
ORPHA:321 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... |
OMIM:617895 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... |
OMIM:176240 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... |
OMIM:300554 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... |
OMIM:613073 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... |
ORPHA:392 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... |
ORPHA:166277 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... |
OMIM:134780 |
| Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... |
ORPHA:971 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Madelung deformity, Radial bowing |
DECIPHER:58 |
| Laron Syndrome |
|
Delayed menarche, Short long bone, Limb undergrowth, Severe short stature |
OMIM:262500 |
| Ruvalcaba Syndrome |
|
Delayed puberty, Limited elbow extension, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis... |
OMIM:180870 |
| Catel-Manzke Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar crease, Pectus carinatum, S... |
OMIM:616145 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short ribs, Microme... |
OMIM:215045 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Proximal placement of thumb, Neonatal death, Absent thumb, Short thumb,... |
OMIM:613390 |
| Cerebrocostomandibular Syndrome |
|
Anomalous rib insertion to vertebrae, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs ... |
OMIM:117650 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Rhizomelia, Vertebral compression fracture, Angulated humerus, Recurrent fractures, S... |
OMIM:616229 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... |
OMIM:264700 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip... |
OMIM:210710 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia... |
ORPHA:2909 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short... |
ORPHA:2307 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A... |
ORPHA:3138 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morpho... |
ORPHA:52 |
| X-Linked Hypophosphatemia |
|
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... |
ORPHA:89936 |
| Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ... |
ORPHA:3404 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Finger aplasia |
OMIM:276822 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Wide anterior fontanel, Limitation of ... |
ORPHA:3098 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Dispropo... |
ORPHA:15 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Bulging of t... |
OMIM:277440 |
| Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ... |
OMIM:166210 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... |
ORPHA:2098 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ... |
OMIM:184705 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... |
OMIM:609465 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short long bone, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili... |
OMIM:618019 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Short ribs, Femoral... |
OMIM:620076 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Broad clavicles, Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly, Abnor... |
ORPHA:508542 |
| Occipital Horn Syndrome |
|
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Aplasia/hypoplasia of the hum... |
ORPHA:198 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ... |
ORPHA:3186 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short stature, Meso... |
OMIM:163400 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Osteopenia, Scoliosis, Osteoporosis, Coxa vara, Joint stiffness, Micrognathia, Severe sh... |
ORPHA:1901 |
| Nager Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Joint stiffness, ... |
ORPHA:245 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Reduced bone mineral density, Pathologic fracture, Increased circulatin... |
ORPHA:157215 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... |
ORPHA:56304 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Delayed ossific... |
OMIM:620099 |
| Dent Disease 1 |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Femoral bowi... |
OMIM:300009 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteoporosis, Micromelia, Growth delay, Camptodactyly of finger, Short palm, Failure ... |
ORPHA:2176 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth |
OMIM:602200 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De... |
OMIM:216340 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Neonatal s... |
ORPHA:1190 |
| Seckel Syndrome 1 |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... |
OMIM:210600 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... |
OMIM:601356 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Oste... |
ORPHA:249 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Joint stiffness, Failure to thrive, Hypopl... |
OMIM:230600 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Rhizomelia, Irregular epiphyses, Broad thumb, Mesomelia, Metaphyseal widening, Brac... |
OMIM:612813 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... |
OMIM:135750 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... |
ORPHA:289176 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Platyspondyly, Scoliosis, Short stature, Failure to thrive, Joint... |
ORPHA:2107 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ... |
OMIM:271510 |
| Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Reduced bone mi... |
ORPHA:84 |
| Fanconi Anemia, Complementation Group U |
|
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... |
OMIM:617247 |
| ERI1-related disease |
|
Dislocated radial head, Oligodactyly, Slender metacarpals, Syndactyly, Intrauterine growth retard... |
OMIM:608739 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Subperiosteal bone resorption, Enlargement of the costochondral junction, Delayed epiphy... |
ORPHA:289157 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Stillbirth, Ankle flexion contracture, Radial deviation of finger, Tetrap... |
OMIM:268300 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Short femur, Short humerus, Flexion contracture |
ORPHA:17 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Small for gestational age, Flared metaphysis, Short ribs, Decreased skull ossificatio... |
OMIM:616897 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease... |
ORPHA:3472 |
| C Syndrome |
|
Radial deviation of finger, Patent ductus arteriosus, Dislocated radial head, Scoliosis, Postaxia... |
OMIM:211750 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:300106 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... |
OMIM:619636 |
| Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... |
OMIM:616507 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... |
ORPHA:3103 |
| Sheldon-Hall Syndrome |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Join... |
ORPHA:1147 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow greater sciatic notch, Neonatal short-limb short stature, Short ribs, Short long bone, Bow... |
OMIM:224400 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Wide anterior fontanel,... |
OMIM:610915 |
| Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb |
OMIM:617784 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of toe, Clubbing of fingers, Elbow flexion contracture, Camptodactyly of fing... |
OMIM:256040 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Tetrasomy 9P |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Arthritis, Missing ri... |
ORPHA:3310 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Scoliosis, T... |
OMIM:613848 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... |
OMIM:311900 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Short stature |
OMIM:193100 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... |
ORPHA:3429 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Short ribs, Missing ri... |
OMIM:617866 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... |
ORPHA:1422 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Short stature, Failure to thrive, Joint contracture, Limb undergrowth... |
OMIM:618005 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Hypoplastic pubic bone, Short ribs, Short long bone, Hypoplastic ilia, Aniso... |
ORPHA:1865 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Congenital bilateral hip dislocation, Recurrent fractures, Tibial bowing, Mic... |
ORPHA:453510 |
| Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body |
OMIM:112310 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
| Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... |
OMIM:146300 |
| Greenberg Dysplasia |
|
Disproportionate short-limb short stature, Short ribs, Short long bone, Short metacarpal, Decreas... |
OMIM:215140 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Fused cervical vertebrae, Absent thumb, Short thumb, Short 1st metacarpal |
OMIM:609053 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... |
ORPHA:93322 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Hypercholanemia, Familial 1 |
|
Rickets, Failure to thrive |
OMIM:607748 |
| Wiedemann-Rautenstrauch Syndrome |
|
Talipes equinovarus, Slender long bone, Narrow chest, Thin ribs, Hypoplastic ilia, Short femur, L... |
OMIM:264090 |
| Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab... |
ORPHA:2911 |
| Sponastrime Dysplasia |
|
Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Biconcave vertebral b... |
ORPHA:93357 |
| Acrofacial Dysostosis 1, Nager Type |
|
Limited elbow extension, Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thum... |
OMIM:154400 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Fanconi Anemia, Complementation Group P |
|
Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb |
OMIM:613951 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Failure to thrive, Growth delay |
OMIM:602722 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Elevated circulating creatine kinas... |
ORPHA:1652 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia, Short stature |
OMIM:179830 |
| Gm1 Gangliosidosis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Abnormal form of th... |
ORPHA:354 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Abnormal rib morphology, Micromelia, Short palm, Micrognathia, Brachyda... |
ORPHA:3015 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Clinodactyly of the 5th finger, Severe postnatal growth retardation, ... |
ORPHA:319675 |
| Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Platyspondyly, Flared metaphysis, Metaphyseal cupp... |
ORPHA:50945 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:272460 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, 2-3 toe syndactyly, Hypoplastic ilia, Short femur, Synovitis, Thin long bone diaphyse... |
ORPHA:3455 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal form of the vertebral b... |
ORPHA:2636 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Oligodactyly, Ectrodactyly |
ORPHA:3016 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Stüve-Wiedemann Syndrome |
|
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Abnormal cortical bone morphology, Recur... |
ORPHA:3206 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets, Short stature |
OMIM:211600 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ... |
OMIM:271665 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Abnormal metaphysis morphology, Limb undergrowth, Short stature |
ORPHA:1861 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Failure to thrive, Osteoporosis |
OMIM:560000 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Short stature |
OMIM:611590 |
| Neu-Laxova Syndrome |
|
Rickets, Osteopenia, Scoliosis, Osteoporosis, Micromelia, Micrognathia, Large hands, Flexion cont... |
ORPHA:2671 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Short stature, Osteomalacia, Recurrent fractures |
OMIM:613388 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion... |
OMIM:610682 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Alagille Syndrome 1 |
|
Short distal phalanx of finger, Abnormal rib morphology, Hypoplasia of the ulna |
OMIM:118450 |
| Cornelia De Lange Syndrome 1 |
|
Limited elbow extension, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal place... |
OMIM:122470 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteopenia, Bowing of the long bones, Growth delay, Failure to thrive |
ORPHA:2088 |
| Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
| Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Postnatal growth retardation, Wide anterior fontanel, Short stature, Short phalanx of... |
OMIM:225410 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th... |
ORPHA:233 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... |
ORPHA:508533 |
| Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... |
ORPHA:83451 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Mesomelia-Synostoses Syndrome |
|
Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Mesomelic short stat... |
OMIM:600383 |
| Lowe Oculocerebrorenal Syndrome |
|
Rickets, Postnatal growth retardation, Joint contracture of the hand, Genu valgum, Platyspondyly,... |
OMIM:309000 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Abnormal r... |
OMIM:214800 |
| Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Aplasia/hypoplasia involv... |
ORPHA:221016 |
| Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Pectus excavatum, Postaxi... |
ORPHA:2886 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... |
ORPHA:221008 |
| Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Short thumb, Absent thumb, 2-3 finger syndactyly |
OMIM:603467 |
| Cystinosis |
|
Rickets, Failure to thrive, Delayed puberty, Short stature |
ORPHA:213 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Scoliosis, Polyostotic fibrous dysplasia, Monost... |
ORPHA:562 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Spina bifida occulta... |
OMIM:105650 |
| Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Absent thumb, Short thumb |
OMIM:610832 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia, Short stature |
OMIM:134600 |
| Slc39A8-Cdg |
|
Osteopenia, Disproportionate short-limb short stature, Elbow flexion contracture, Short stature, ... |
ORPHA:468699 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Arthritis, Hypoplastic ilia, Kyphosis, Short stature, Limb undergrowth, Metaphysea... |
ORPHA:1855 |
| Geleophysic Dysplasia 3 |
|
Limited elbow movement, Epiphyseal dysplasia, Short stature, Limb undergrowth, Brachydactyly, Lim... |
OMIM:617809 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Delayed puberty, Postnatal growth retardation, Osteoporosis, Short stature, Failure to t... |
OMIM:212750 |
| Mosaic Trisomy 16 |
|
Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, Short thumb, Clin... |
ORPHA:1708 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Failure to thrive, Postnatal growth retardation |
ORPHA:79303 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Abnormal sternum morphology,... |
OMIM:192350 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Short stature |
OMIM:268315 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Failure to thrive |
OMIM:607765 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Rachitic rosary, Hypophosphatemic rickets |
OMIM:612089 |
| Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Micrognathia, Absence of the sacrum, Hip dislocation |
ORPHA:3412 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Joint hypermobility, Scoliosis, Short stature,... |
OMIM:613658 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age, Short stature |
OMIM:616026 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteoporosis, Growth delay, Weight loss, Osteomalacia |
ORPHA:309031 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Hypoplasia of the radius, Toe syndactyly, Clinodactyly of the 5th finger |
ORPHA:140952 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
| Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Arthritis, Abnormal digit... |
ORPHA:2363 |
| Fanconi-Bickel Syndrome |
|
Rickets, Failure to thrive, Osteomalacia, Postnatal growth retardation |
OMIM:227810 |
| Distal Arthrogryposis Type 1 |
|
Rocker bottom foot, Abnormal hip bone morphology, Joint stiffness, Camptodactyly of finger, Ulnar... |
ORPHA:1146 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Micrognathi... |
ORPHA:444077 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal metaphysis morphology, Delayed puberty, Genu valgum, Platyspondyly, Arthritis, Osteomala... |
ORPHA:534 |
| Distal Renal Tubular Acidosis |
|
Rickets, Reduced bone mineral density, Short stature, Failure to thrive, Growth delay, Osteomalac... |
ORPHA:18 |
| Cystinosis, Nephropathic |
|
Rickets, Delayed puberty, Genu valgum, Hypophosphatemic rickets, Short stature, Failure to thrive... |
OMIM:219800 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Hypomagnesemia 3, Renal |
|
Rickets, Genu valgum, Increased circulating beta-C-terminal telopeptide concentration, Short meta... |
OMIM:248250 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Failure to thrive, Growth delay |
ORPHA:411629 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Joint hypermobility, Osteoporosis, Osteoarthri... |
OMIM:277900 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Growth delay, Weight loss, Osteomalacia, Increased susceptibility to fr... |
ORPHA:3337 |
| Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Scoliosis, Absent phalangeal crease, Ulnar deviation of the hand or of finger... |
OMIM:601680 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Arthritis, Weight loss, Osteomalacia, Hypo... |
OMIM:619381 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, C... |
ORPHA:51608 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
