Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A... |
ORPHA:75508 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Recurrent respirato... |
OMIM:616716 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... |
OMIM:108720 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A... |
OMIM:222765 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Scoliosis, Camptodactyly |
OMIM:617055 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Short me... |
OMIM:184260 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes... |
ORPHA:2631 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc... |
ORPHA:177 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode |
OMIM:610992 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, Short neck, Abno... |
ORPHA:3098 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L... |
ORPHA:2204 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Short neck, Elbow flexion contract... |
OMIM:616809 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... |
ORPHA:1803 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron... |
OMIM:614078 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology, Poor wound healing |
OMIM:615548 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum... |
ORPHA:85198 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... |
OMIM:618392 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Abse... |
OMIM:607323 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Short palm, Short 1st metacarpal |
ORPHA:93328 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar... |
OMIM:602557 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Prenatal death, Camptod... |
OMIM:618393 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm |
ORPHA:168555 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Melnick-Needles Syndrome |
|
Short humerus, Recurrent respiratory infections, Hypoplastic scapulae, Anterior concavity of thor... |
OMIM:309350 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the h... |
ORPHA:166011 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Abnormal cervical curvature, Epiphyseal stippling o... |
ORPHA:56305 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:1354 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short metatarsal, Sh... |
OMIM:180870 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Kyphosis, Aplasia/Hypoplasia o... |
ORPHA:1548 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Odontochondrodysplasia |
|
Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ... |
ORPHA:166272 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Recurrent upper res... |
OMIM:607143 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Joint stiffness, Limitation of ... |
ORPHA:1801 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Crani... |
ORPHA:93329 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Kyphoscoliosis, Coxa valga, Micrognathia, Hyperlordosis, Adva... |
OMIM:618363 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Hip dysp... |
OMIM:611890 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Recurrent respiratory infections, Kyphosis, Talipes equinov... |
ORPHA:85288 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, ... |
OMIM:156550 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Short neck, Limited knee fle... |
OMIM:258315 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly |
ORPHA:1277 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Short neck, Brachydactyly |
ORPHA:221054 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ... |
OMIM:613320 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long bo... |
OMIM:620269 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se... |
OMIM:259420 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micromelia, Micrognathia, Short neck, Abnormal enchondral ossification, Shor... |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Ck Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig... |
OMIM:300831 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,... |
OMIM:304150 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati... |
ORPHA:75840 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck, ... |
OMIM:616897 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short neck, Kyphosis,... |
ORPHA:3409 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Short neck, Micrognathia, Craniosynostosis, Kn... |
ORPHA:284417 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee fle... |
OMIM:615290 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Sh... |
ORPHA:1865 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Prominent superficial veins, Camptodactyly of finger,... |
OMIM:612350 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies |
OMIM:600972 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Short foot, Aplasia/Hypop... |
ORPHA:93298 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr... |
OMIM:616145 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... |
ORPHA:93160 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Intrauterine growth ret... |
ORPHA:48431 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infections, Short neck... |
ORPHA:61 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... |
ORPHA:896 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Camptodac... |
OMIM:609128 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... |
ORPHA:3404 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Micromelia, Abnormality of t... |
ORPHA:1842 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho... |
OMIM:251230 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Iron accumulation in substantia nigra, Optic atrophy, Abnormal autonomic nerv... |
ORPHA:329284 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Crazy paving pattern, Nonspecific interstitial pneumonia, Nodular pat... |
OMIM:610921 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... |
OMIM:612813 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Micromelia, Bowing of the legs, Craniosynosto... |
OMIM:241500 |
Achondrogenesis |
|
Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Aplasia/Hypoplasia of the... |
ORPHA:932 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture... |
OMIM:215150 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... |
OMIM:607095 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Coxa valga, Avascular necrosis ... |
ORPHA:1901 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joi... |
OMIM:252605 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short long bone, Vertebral segmentation defect... |
OMIM:618845 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Aplasia/Hypoplasia of ... |
ORPHA:2145 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Abnormality of the hand, Abn... |
ORPHA:2496 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Flexion contracture, Intrauterine growth retardation |
OMIM:618237 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal wideni... |
OMIM:263210 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary... |
ORPHA:86822 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Overtubulated long bones, Short clavicles, Intrauterine growth retar... |
OMIM:619793 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K... |
ORPHA:93316 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Asbestos Intoxication |
|
Cyanosis, Lung adenocarcinoma, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial m... |
ORPHA:2302 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop... |
OMIM:253010 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis, Craniosynostosis, Polydactyly, Tracheomalacia |
ORPHA:137914 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Neonatal death |
OMIM:617184 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Talipes equinovarus, Upper limb amyotrophy |
OMIM:617087 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Short ne... |
ORPHA:3309 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... |
OMIM:618484 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid... |
OMIM:224400 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Micrognathia, Kyphosis, Reduced bone mineral density, Premature gray... |
ORPHA:2617 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp... |
ORPHA:178148 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Cutis mar... |
ORPHA:3219 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Micromelia, Micrognathia, ... |
OMIM:617866 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn... |
OMIM:619879 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Micrognathia, Pneumothorax, Patellar hypoplasia, Hypo... |
ORPHA:2257 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phosph... |
OMIM:265120 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Joint laxity, Scapular winging, Monkey wrench femoral neck, Single transverse ... |
OMIM:618870 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture, Abno... |
ORPHA:263463 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacarpal mo... |
ORPHA:137834 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Short neck, Osteomal... |
ORPHA:2176 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... |
ORPHA:3041 |
Hall-Riggs Syndrome |
|
Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor... |
ORPHA:2107 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Genu ... |
OMIM:615777 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Pycnodysostosis |
|
Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi... |
ORPHA:763 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as... |
ORPHA:1597 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... |
ORPHA:508533 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retro... |
OMIM:610682 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice, Tapered finger |
OMIM:618512 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Abnormal cartilage matrix, Neonatal death |
OMIM:245650 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ... |
OMIM:616507 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ... |
ORPHA:1798 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Aplasia/Hypoplasia of the lungs, Joint hyperf... |
ORPHA:93274 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,... |
ORPHA:582 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm, ... |
ORPHA:238750 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Micrognathia, Wide anterior fontanel... |
OMIM:225410 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Micrognathia, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arth... |
OMIM:615834 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P... |
OMIM:211750 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:369873 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Death in infancy |
OMIM:616287 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis |
ORPHA:621 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Recurrent upper respiratory tract infections, Rhizomelic arm sho... |
ORPHA:508542 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... |
OMIM:231070 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc... |
ORPHA:64755 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased calvarial ossification, Intrau... |
ORPHA:2772 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intralobular septal thick... |
OMIM:610913 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... |
OMIM:230600 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Genu varum, Long toe, Prematurely aged appearance,... |
OMIM:264090 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation |
ORPHA:85173 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth retardation, J... |
OMIM:618005 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Flexion contracture, Polydactyly |
ORPHA:17 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Short neck, Kyphosis, Wide anterior fontanel, Radioulnar synostosis... |
OMIM:248700 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Tibial bowing, Congenital b... |
ORPHA:453510 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Micromelia, Erythema, Flexion contracture, Camptodactyly, Neona... |
OMIM:610015 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Narrow palm, Short... |
OMIM:615547 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Clubbing, Intraalveolar phos... |
OMIM:610910 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Cyanosis, Weakness of the intrinsic hand muscles, Weakness of long finge... |
ORPHA:98913 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Broad di... |
OMIM:615761 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... |
OMIM:614407 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Micrognathia, Kyphosis, Narrow palm, Congenital contracture, Joint cont... |
ORPHA:352490 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Atlantoaxial abnormality,... |
ORPHA:3455 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, I... |
OMIM:255200 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Cyan... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Cyan... |
ORPHA:98914 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... |
ORPHA:1318 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Micrognathia, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... |
OMIM:601559 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Pulmona... |
OMIM:224410 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis... |
ORPHA:1883 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,... |
ORPHA:3082 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortenin... |
ORPHA:163654 |
Multiple System Atrophy |
|
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... |
ORPHA:102 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Broad femoral neck, ... |
OMIM:611209 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphos... |
ORPHA:354 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr... |
OMIM:108145 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... |
ORPHA:79126 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... |
OMIM:242700 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... |
OMIM:610968 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Broa... |
OMIM:300280 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Abnormal autonomic nervous system physiology, Facial palsy, Abnormal cranial n... |
ORPHA:97229 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respiratory tract infections, Ty... |
OMIM:263000 |
Hypertrichosis Cubiti |
|
Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... |
ORPHA:1005 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... |
ORPHA:2021 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Nemaline Myopathy 10 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Neonatal death |
OMIM:616165 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion con... |
OMIM:618162 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia, Joint hyperflexibility |
ORPHA:319199 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scoliosis, Cubitus... |
OMIM:248800 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Multiple System Atrophy, Parkinsonian Type |
|
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... |
ORPHA:98933 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli... |
ORPHA:79107 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Recurre... |
ORPHA:3206 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Sjögren-Larsson Syndrome |
|
Joint stiffness, Kyphosis, Erythema, Urticaria, Scoliosis |
ORPHA:816 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibial bowing, Femoral bowing... |
OMIM:616482 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthri... |
OMIM:108300 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... |
OMIM:600501 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormal hip bone mo... |
ORPHA:2522 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar ... |
ORPHA:2886 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Acrocyanosis, Clubbing of ... |
ORPHA:2905 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scapul... |
OMIM:181405 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Recurrent up... |
ORPHA:583 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:614096 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Short nec... |
ORPHA:2879 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... |
ORPHA:199241 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, ... |
OMIM:314580 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
Typical Nemaline Myopathy |
|
Micrognathia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Hip dislocation, Flexion cont... |
ORPHA:171436 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Chronic bronchitis, Short neck, Metatarsus adductus... |
OMIM:253220 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck,... |
OMIM:301041 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis |
ORPHA:60041 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo... |
ORPHA:488434 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Flexion contracture, Limb undergrowth, Intrauterine growth retar... |
ORPHA:79243 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Atelectasis, Short toe, Broad palm, Short f... |
OMIM:269860 |
Sandhoff Disease |
|
Kyphosis, Recurrent respiratory infections |
ORPHA:796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Kyphosis, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ... |
OMIM:619184 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Pulmonary hypoplasia... |
OMIM:608149 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn... |
OMIM:616294 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:617190 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... |
ORPHA:60025 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress |
OMIM:619003 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Cl... |
ORPHA:3304 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Abnormal autonomic nervous s... |
OMIM:614575 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibili... |
ORPHA:2637 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep palmar cr... |
ORPHA:254346 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Or... |
OMIM:169500 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Cyanosis |
ORPHA:444013 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis... |
ORPHA:319675 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,... |
OMIM:252500 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Bile Acid Conjugation Defect 1 |
|
Jaundice, Rickets |
OMIM:619232 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
Multiple System Atrophy, Cerebellar Type |
|
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... |
ORPHA:227510 |
Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Micrognathia, Spinal rigidity, Kyphosis, A... |
OMIM:620351 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Ky... |
ORPHA:94065 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Plat... |
ORPHA:1855 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odo... |
OMIM:258480 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Ti... |
ORPHA:96334 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,... |
OMIM:616331 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Chiari Malformation Type Ii |
|
Chiari malformation, Cyanosis |
OMIM:207950 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Haddad Syndrome |
|
Death in infancy, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Optic atrophy |
ORPHA:391428 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Femoral bowing, Short long bone, Talipe... |
OMIM:617022 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Kyphosis... |
ORPHA:85293 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
OMIM:242500 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Death in infancy, Abn... |
ORPHA:800 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Spina bifida occulta, Hypoplastic cervical vertebrae, Joint ... |
OMIM:150250 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Joint hyperflexibility |
OMIM:614898 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Short toe, Kyphosis, Brachydactyly |
ORPHA:3085 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, In... |
ORPHA:1765 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the femoral head, Coxa valga, Short neck, Hypopla... |
OMIM:607014 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, D... |
ORPHA:192 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sin... |
OMIM:619951 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single trans... |
ORPHA:3191 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, A... |
ORPHA:2769 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Hypoxemia |
ORPHA:747 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy |
OMIM:261680 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus... |
ORPHA:2479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... |
OMIM:606612 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Should... |
ORPHA:536532 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Short neck, Joint stiffness, Kyphosis, Angiokeratoma corporis diffusum, Hypopla... |
OMIM:230500 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Micrognathia |
ORPHA:2598 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... |
OMIM:169400 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Pulmonary artery hypoplasia, Cyanosis, Osteoporosis |
ORPHA:2326 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Short foot, Limb... |
OMIM:617809 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Recurrent respiratory infections, Kyphosis, Acromicria, Small hand, Narro... |
OMIM:176270 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
Flynn-Aird Syndrome |
|
Kyphosis, Bone cyst, Scoliosis, Joint stiffness |
ORPHA:2047 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri... |
ORPHA:2062 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... |
OMIM:259770 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Aplastic clavicle... |
ORPHA:2658 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Abnormal autonomic nervous system physiology |
OMIM:300894 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Cutis marmorata, Repeated pneumothoraces, Kyphosis, Scoliosis, Campto... |
OMIM:617602 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Raine Syndrome |
|
Death in infancy, Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognat... |
OMIM:259775 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemothorax |
ORPHA:2038 |
Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology |
OMIM:133020 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micromelia, Elbow dislocation, Short n... |
ORPHA:99776 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal lung lobation, Abnormal pelvic girdle bone morphol... |
ORPHA:3378 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... |
ORPHA:98855 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Bronchitis, Laryngotracheomalacia, Pulmonary hypoplas... |
ORPHA:1199 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, Pulmonary hypoplas... |
ORPHA:314588 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Preaxial hand polydactyly, ... |
ORPHA:261318 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles... |
ORPHA:370930 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, ... |
ORPHA:98863 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:85317 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia, Pulmonar... |
ORPHA:1908 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, C... |
OMIM:607015 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Cerebellar gliosis, Optic atrophy, Abnormal autonomic nervous system physiolo... |
ORPHA:35069 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short fo... |
OMIM:618443 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Jaundice, Rickets |
OMIM:211600 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Narrow pal... |
ORPHA:193 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis |
OMIM:609008 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
3C Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Death in infancy, Micrognathia, Missing ribs... |
ORPHA:7 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Abnormal pulmon... |
ORPHA:77259 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Death in childhood, Limb ... |
OMIM:619124 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... |
ORPHA:3015 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphos... |
OMIM:609029 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Kyphosis |
OMIM:618138 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Clubbing |
ORPHA:439 |
Kinsship Syndrome |
|
Osteopenia, Death in infancy, Sacral dimple, Single transverse palmar crease, Coxa valga, Microgn... |
OMIM:619297 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Mcdonough Syndrome |
|
Kyphosis, Bilateral single transverse palmar creases, Scoliosis, Micrognathia |
ORPHA:2471 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Recurrent fractures, Abnormal pleura morphology, Osteolysis, Sc... |
ORPHA:1764 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... |
ORPHA:261 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... |
ORPHA:98853 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Cyanosis, Pulmonary artery atresia |
ORPHA:3426 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
OMIM:256800 |
Tetanus |
|
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:3299 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Kyphosis, Osteoporosis, Facial erythema, Biconcave vertebral bodies, Ecchymos... |
OMIM:219090 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera... |
ORPHA:1507 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Limitation of joint mobility, Erythema, Urticaria, Arthritis, Acrocyanosis, Purpura |
ORPHA:343 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Lymphatic Malformation 12 |
|
Neonatal death, Neonatal respiratory distress, Death in adolescence |
OMIM:620014 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum |
ORPHA:488627 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Kyphosis |
OMIM:141300 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Metatarsus... |
ORPHA:2215 |
Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly... |
OMIM:146510 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Short neck, Osteoporosis, 2-3 toe syndactyly, Broad finger, Scoliosi... |
ORPHA:488632 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Anomalous pulmonar... |
ORPHA:35107 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Flexion contracture, Bone cy... |
ORPHA:3042 |
Aicardi-Goutieres Syndrome 1 |
|
Cerebellar calcifications, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Osteopenia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Pr... |
OMIM:300966 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyl... |
OMIM:616894 |
Trisomy 9P |
|
Brachydactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Bi... |
ORPHA:236 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epistaxis, Death in adolescence, Death in childhood, Neonatal death |
OMIM:202400 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Ecto... |
OMIM:225500 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Short neck, Long... |
OMIM:256520 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... |
ORPHA:562 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy |
OMIM:613730 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent respiratory infections, Bowing of the long bones, Coarse metaphyseal trabec... |
ORPHA:955 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
Cornelia De Lange Syndrome 1 |
|
Cutis marmorata, Single transverse palmar crease, Proximal placement of thumb, Micromelia, Microg... |
OMIM:122470 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Abnormal autonomic nervous system physiology |
OMIM:109150 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Eosinophilia, Abnormal pleura morphology, U... |
ORPHA:183 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Scoliosis... |
OMIM:618493 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... |
OMIM:607155 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Cerebellar hypoplasia, Autonomic bladder dysfunction |
ORPHA:447896 |
Alg12-Cdg |
|
Recurrent respiratory infections, Sandal gap, Ulnar deviation of the wrist, Proximal placement of... |
ORPHA:79324 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis |
OMIM:619580 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis |
OMIM:219080 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Death in infancy, Miscarriage |
OMIM:613390 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte... |
ORPHA:79255 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Urtica... |
ORPHA:394 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, Kyph... |
OMIM:617061 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Osteopenia, Scapular winging, Congenital hip dislocation, Progeroid facial app... |
OMIM:278250 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis |
OMIM:610475 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Bronchiectasis, Pneumo... |
ORPHA:95430 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Overlapping toe, Death in infancy |
OMIM:617478 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Single transverse palmar crease, Scoliosis |
OMIM:300861 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Cyan... |
OMIM:306955 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Br... |
ORPHA:404440 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Hip dislocation,... |
OMIM:610443 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Emphysema, Genu valgum, Aplasia/Hypoplasia of the lungs, Abno... |
ORPHA:289 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoxemia, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypercapnia |
OMIM:209880 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Pulmonary hypoplasia, Extra... |
OMIM:200995 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Mic... |
ORPHA:476126 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Recurrent respiratory infections, Arachnodactyly, Short h... |
ORPHA:280 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Sacral dimple, Micr... |
OMIM:180700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Small hand, Osteopor... |
ORPHA:398069 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Micrognathia |
ORPHA:77300 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology |
OMIM:617903 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, B... |
ORPHA:2075 |
Parkinson Disease, Late-Onset |
|
Substantia nigra gliosis, Abnormal autonomic nervous system physiology |
OMIM:168600 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Cockayne Syndrome Type 2 |
|
Progeroid facial appearance, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retard... |
ORPHA:90322 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinodactyly, Bruisin... |
OMIM:619745 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Abnormal form of th... |
ORPHA:2789 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Prominent superficial blood vessels, Cyanosis, Micrognathia, Co... |
ORPHA:740 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Abnormal auton... |
ORPHA:300570 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
2P15P16.1 Microdeletion Syndrome |
|
Recurrent respiratory infections, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:261349 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Br... |
OMIM:614800 |
Fabry Disease |
|
Angiokeratoma, Abnormal autonomic nervous system physiology, Angiokeratoma corporis diffusum |
OMIM:301500 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Cutis marmorata, Single... |
OMIM:303600 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Rickets, Prolonged neonatal jaundice |
ORPHA:79303 |
Mucolipidosis Type Ii |
|
Hip contracture, Recurrent respiratory infections, Craniosynostosis, Limited wrist movement, Kyph... |
ORPHA:576 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Tapered finger, Short neck, Broad fingertip, Small hand, Short m... |
ORPHA:2896 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Rickets |
OMIM:607765 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Adducted thumb, Bilateral single transverse palmar creases |
ORPHA:50810 |
Alg9-Cdg |
|
Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Micrognathia, Short neck, Wide anteri... |
ORPHA:79328 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, Abnormal auditory evoked potent... |
ORPHA:99027 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Wide anterior fontanel, Coronal cra... |
ORPHA:85199 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Split hand, Flexion contracture, Recurrent pneumonia, Tracheobronchomalacia |
OMIM:309900 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Recurrent respiratory infections, Scoliosis, Joint stiffness |
ORPHA:702 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... |
ORPHA:508488 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Joint hypermobility |
OMIM:617988 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Osteoarthrit... |
ORPHA:287 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Recurrent pneumoni... |
ORPHA:464738 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
OMIM:105210 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long palm, Scoliosis |
OMIM:300676 |
Fucosidosis |
|
Kyphosis, Acrocyanosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobation, Abnormal form of t... |
ORPHA:818 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v... |
OMIM:309000 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis |
OMIM:610489 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Bilater... |
OMIM:619708 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Clubbing of toes, Clubbing of fingers, Pulmonary arte... |
ORPHA:99106 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Kyphosis, Flushing, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Elbow flexion contracture, Genu v... |
OMIM:619194 |
Porphyria Variegata |
|
Cutaneous photosensitivity, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Scoliosis, Biconca... |
OMIM:130720 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Olivopontocerebellar atrophy, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Cerebellar corti... |
ORPHA:247234 |
Micro Syndrome |
|
Joint stiffness, Micrognathia, Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:2510 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... |
ORPHA:85443 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Ky... |
OMIM:133540 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility |
OMIM:619718 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Recurrent upper and lower respiratory tract infections, Brachyda... |
ORPHA:79329 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Mic... |
ORPHA:521426 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Optic neuropathy |
OMIM:252010 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Calcification of the auricular cartilage, Osteomalacia, Stippled calcification of the s... |
ORPHA:51608 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Tracheomalacia, Micrognathia, Kyphosis, Clinodactyly of the 5th finger, Intraut... |
ORPHA:1393 |
Stickler Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Os... |
ORPHA:828 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis, Anomalous pulmonary venous return |
ORPHA:555874 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo... |
OMIM:139210 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Acrocyanosis |
OMIM:223900 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Micromelia, Microgn... |
ORPHA:2753 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal lun... |
OMIM:270400 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Micrognath... |
ORPHA:534 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Vascular skin abnormality |
ORPHA:812 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Kyphoscoliosis, Bifid distal phalanx of the thumb, Microgna... |
ORPHA:97360 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Coxa valga, Avascular necr... |
ORPHA:3107 |
Marfan Syndrome |
|
Osteopenia, Pulmonary artery dilatation, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabul... |
ORPHA:558 |
Rett Syndrome |
|
Short foot, Kyphosis, Scoliosis |
OMIM:312750 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Limb joint contracture, Coxa valga,... |
ORPHA:404454 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Intrauterine growth retardation, Clinodactyly |
OMIM:616541 |
Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Kyphosis, Polydactyly... |
ORPHA:464306 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Kyphosis, Scoliosis |
ORPHA:364028 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Kyphosis, Joint stiff... |
ORPHA:2461 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy |
ORPHA:31826 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Kyphosis, Ectodermal dysplasia, Radial deviation of finger, Clinodactyly |
OMIM:609944 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Single transverse palmar cre... |
OMIM:194190 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyphosis, Wide anterior... |
ORPHA:401973 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Short neck, Postaxial hand ... |
OMIM:613610 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Abnormal pulmonary interstitial morphology, Reduced bone miner... |
OMIM:613658 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Hemivertebrae, Tali... |
OMIM:301040 |
Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Death in infancy, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion co... |
OMIM:212065 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death |
OMIM:253310 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... |
ORPHA:93256 |
Alstrom Syndrome |
|
Abnormality of the hand, Kyphosis, Recurrent pneumonia, Hyperostosis frontalis interna, Scoliosis |
OMIM:203800 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis |
ORPHA:261250 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery... |
ORPHA:221 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Intrauteri... |
ORPHA:464311 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Kyphosis, Scoliosis, Death in childhood |
OMIM:211530 |
Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Cyanosis, Optic atrophy |
ORPHA:137675 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged appearance, Progeroid faci... |
OMIM:216400 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, Death in childhood, Intrauterin... |
OMIM:619005 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... |
OMIM:187300 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib... |
OMIM:616546 |
Tick-Borne Encephalitis |
|
Abnormal medulla oblongata morphology, Facial palsy, Abnormal brainstem MRI signal intensity, Abn... |
ORPHA:297 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Sandal gap, Single transverse palm... |
OMIM:135900 |
Rett Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:778 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint laxity, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint laxity, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly... |
ORPHA:363958 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... |
ORPHA:3063 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral densit... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral densit... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral densit... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral densit... |
ORPHA:881 |
Myasthenia Gravis |
|
Acrocyanosis, Rheumatoid arthritis |
ORPHA:589 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vertebral bodies, Clinod... |
ORPHA:744 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia |
OMIM:227810 |
Zttk Syndrome |
|
Unilateral lung agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Small hand, Hemiverteb... |
OMIM:617140 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Recurrent upper respiratory tract infections, Scoliosis, Recurrent lower respiratory tr... |
ORPHA:293987 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy |
OMIM:618835 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy |
OMIM:618839 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis |
OMIM:617011 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Acrocyanosis, Cutis marmorata, Recurrent fractures |
ORPHA:416 |
Monosomy 9Q22.3 |
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Short neck, Palmar pits, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, P... |
ORPHA:77301 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Telangiectasia of the skin, Bowing of the legs, Kyphosis, Abnormal lung morphology, O... |
ORPHA:97685 |
Leukocyte Adhesion Deficiency Type Ii |
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Overlapping toe, Recurrent pneumonia, Broad palm, Limb undergrowth, Intrauterine growth retardation |
ORPHA:99843 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Cutis marmorata, Abnormal morphology of ulna, Proximal placement of thumb, Microm... |
ORPHA:199 |
Unilateral Polymicrogyria |
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Cyanosis, Giant somatosensory evoked potentials |
ORPHA:268943 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... |
OMIM:600376 |
Schisis Association |
|
Micromelia |
ORPHA:63862 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Cyanosis, Knee flexion contracture |
OMIM:617239 |
Hypermobile Ehlers-Danlos Syndrome |
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Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joi... |
ORPHA:285 |
Ramos-Arroyo Syndrome |
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Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Complete Atrioventricular Septal Defect |
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Cyanosis, Recurrent pneumonia |
ORPHA:1329 |
Cowden Syndrome 5 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Subcutaneous lipoma |
OMIM:615108 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Absence Of The Pulmonary Artery |
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Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Pulmonary hypopl... |
ORPHA:980 |
Alexander Disease |
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Aqueductal stenosis, Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:58 |
C Syndrome |
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Death in infancy, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Micr... |
ORPHA:1308 |
Cowden Syndrome 6 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Subcutaneous lipoma |
OMIM:615109 |
Alternating Hemiplegia Of Childhood |
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Abnormal autonomic nervous system physiology, Flushing |
ORPHA:2131 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Pleural effusion, Cyanosis, Pulmonary edema |
OMIM:261740 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Finger syndactyly, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Primrose Syndrome |
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Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Metatarsus adduct... |
OMIM:259050 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Atrial Septal Defect, Coronary Sinus Type |
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Cyanosis, Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Abnormal autonomic nervous system physiology |
ORPHA:453499 |
Wilson Disease |
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Osteomalacia, Osteoarthritis, Jaundice, Osteoporosis, Joint hypermobility |
OMIM:277900 |
Mend Syndrome |
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Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyph... |
OMIM:300960 |
Aicardi-Goutières Syndrome |
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Multiple joint contractures, Cutis marmorata, Arthritis, Scoliosis, Prolonged neonatal jaundice, ... |
ORPHA:51 |
Cowden Syndrome |
|
Brachydactyly, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Mucosal telangiectasiae |
ORPHA:201 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis, Re... |
ORPHA:48435 |
Cowden Syndrome 1 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Subcutaneous lipoma |
OMIM:158350 |
Aspartylglucosaminuria |
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Joint laxity, Recurrent respiratory infections, Kyphosis, Hypoplastic frontal sinuses, Angiokerat... |
OMIM:208400 |
Peters Plus Syndrome |
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Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short neck, Short toe, Short... |
ORPHA:709 |
Distal Renal Tubular Acidosis |
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Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Kyphosis, Scoliosis |
ORPHA:261144 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint... |
ORPHA:457359 |
Congenital Tracheal Stenosis |
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Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... |
ORPHA:141127 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Williams Syndrome |
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Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
15Q14 Microdeletion Syndrome |
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Kyphosis, Scoliosis |
ORPHA:261190 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Epiphyseal dysplasia, Deep palmar crease, Micromelia, Short neck |
ORPHA:1675 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Kyphosis, Jaundice, Death in adolescence, Prolonged neonatal jaundice |
OMIM:615512 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Mesomelia, Hip subluxation, Micrognathia |
OMIM:613457 |
Atelis Syndrome 2 |
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Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Clinodactyly |
OMIM:620185 |
Neurofibromatosis Type 1 |
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Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Scoliosis, Abnorm... |
ORPHA:636 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia |
OMIM:600740 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Metaphyseal widening, Rickets, Genu valgum |
OMIM:219800 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:139417 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Double Outlet Left Ventricle |
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Cyanosis |
ORPHA:3427 |
Wolfram Syndrome |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
Nmda Receptor Encephalitis |
|
Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol... |
ORPHA:217253 |
Mednik Syndrome |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:609313 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pneumonia |
ORPHA:99103 |
Autosomal Recessive Ataxia, Beauce Type |
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Kyphosis, Scoliosis |
ORPHA:88644 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Tela... |
ORPHA:1606 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Joint laxity, Osteomyelitis, Single transverse palmar crease, Kyphosis, Jaundice, Abno... |
OMIM:619475 |
Neuroleptic Malignant Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:94093 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnor... |
ORPHA:2273 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis, Clubbing, Aortopulmonary window |
ORPHA:97214 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phal... |
OMIM:300967 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Pulmonary fibrosis, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Deep ... |
ORPHA:963 |
Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Deep ... |
ORPHA:314769 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4... |
ORPHA:268261 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Bronchitis, Pneumonia, Bronchiectasis, Arthritis, Vasculitis in the ... |
OMIM:619381 |
Viss Syndrome |
|
Prominent superficial blood vessels, Micrognathia, Generalized joint laxity, Emphysema, Long toe,... |
OMIM:619472 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Contractures of the large joints, Congenital contr... |
ORPHA:191 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death |
OMIM:615709 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Ramon Syndrome |
|
Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis, Juvenile rheumatoid arthritis |
OMIM:266270 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... |
OMIM:233450 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death |
OMIM:619362 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Short thu... |
OMIM:113620 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos... |
ORPHA:821 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Chylothorax, Micrognathia |
OMIM:153400 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Flexion contracture, Premature graying of hair, Scoliosis, Cutaneous photosensitivity |
ORPHA:90324 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Leprosy |
|
Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology |
ORPHA:548 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... |
ORPHA:99125 |
Choreoacanthocytosis |
|
Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials |
ORPHA:2388 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Alström Syndrome |
|
Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe, Recurrent upper respiratory tract... |
ORPHA:64 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm, Joint hypermobility |
OMIM:618505 |