Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Hip dysplasia, Limitation of joint mob... |
OMIM:619598 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia, Intrauterine ... |
OMIM:601560 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... |
OMIM:271530 |
Angioosteohypotrophic Syndrome |
|
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... |
ORPHA:75508 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Micrognathia, Irregular vertebral endplates, Rhizomelia, Osteopenia, Stippled calcification proxi... |
OMIM:222765 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... |
OMIM:256050 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... |
OMIM:616716 |
Omodysplasia 2 |
|
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... |
OMIM:164745 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... |
OMIM:601438 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation of finger, Coxa vara, S... |
ORPHA:2831 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... |
OMIM:118651 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, 11 pairs of ribs, S... |
OMIM:108720 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... |
ORPHA:2141 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Micromelia, Metaphyseal c... |
OMIM:250460 |
Parastremmatic Dwarfism |
|
Kyphosis, Genu valgum, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
Diastrophic Dysplasia |
|
Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... |
OMIM:222600 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Hypochondroplasia |
|
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... |
OMIM:146000 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood, Short finger, Tapered finger |
OMIM:302000 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Talipes equinovarus, Hypoplastic scapulae, Rhizomelia, Scapulohumeral synostosis, D... |
OMIM:602471 |
Holt-Oram Syndrome |
|
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Abnormal vertebral morph... |
OMIM:142900 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Short lon... |
OMIM:611702 |
Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... |
OMIM:601561 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lungs, Abnormal form of the ve... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... |
ORPHA:93314 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... |
OMIM:252320 |
Boomerang Dysplasia |
|
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Aplasia/Hypo... |
ORPHA:1263 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... |
OMIM:177170 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
Odontochondrodysplasia 1 |
|
Genu varum, Death in infancy, Recurrent respiratory infections, Short phalanx of finger, Short lo... |
OMIM:184260 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metacarpal morphology, Pulmonary hypoplasia, Abnormal lung lobation, Abnormality of epip... |
ORPHA:2631 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri... |
OMIM:602557 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
Achondroplasia |
|
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... |
ORPHA:15 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... |
OMIM:608728 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormality of epiphysis mor... |
ORPHA:93351 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... |
ORPHA:2878 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe |
OMIM:618453 |
Rhizomelic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Abnormality of epiphysis morphology, Limb undergrowth, Rhizomelia, Abnormal... |
ORPHA:177 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Reduced arm span, Genu varum, Arthralgia of the hip, Fragmentation of the metacarpal epiphyses, A... |
ORPHA:166002 |
Greenberg Dysplasia |
|
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... |
ORPHA:1426 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... |
ORPHA:93308 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... |
OMIM:609616 |
Diastrophic Dysplasia |
|
Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral bodies, Proxima... |
ORPHA:628 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... |
OMIM:618961 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Small epiphyses, Microretrognathia, Hip contracture, Coronal cleft vertebrae, Irreg... |
OMIM:618363 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sanda... |
OMIM:607143 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebral bodi... |
OMIM:151210 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ri... |
OMIM:610319 |
Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... |
OMIM:211350 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... |
OMIM:601376 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Thoracomelic Dysplasia |
|
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... |
ORPHA:1803 |
Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology,... |
ORPHA:3098 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... |
OMIM:618728 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormality of limb bone morphology, Abnormal ... |
ORPHA:2204 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Prolonge... |
OMIM:210710 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Short ribs, Stillbirth, Advanced ossification of carpal... |
OMIM:215045 |
Ollier Disease |
|
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... |
ORPHA:296 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar metaphysis, Platyspondyly, Genu va... |
ORPHA:85198 |
Autosomal Dominant Omodysplasia |
|
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation |
ORPHA:93328 |
Astley-Kendall Dysplasia |
|
Micromelia, Epiphyseal stippling |
ORPHA:85175 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... |
ORPHA:2741 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... |
ORPHA:93352 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Kyphoscoliosis, Massively thickened long bone cortices, Micromelia, Brachydactyly |
OMIM:122900 |
Cono-Spondylar Dysplasia |
|
Short lower limbs, Short 4th toe, Epiphyseal dysplasia, Kyphosis, Short humerus, Short neck, Scol... |
ORPHA:420794 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Pulmonary hypoplasia, Short ribs, Absent verteb... |
ORPHA:93296 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Coxa valga, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffne... |
OMIM:616583 |
Rare Circulatory System Disease |
|
Abnormal metatarsal morphology, Enlargement of the wrists, Abnormality of the elbow, Abnormality ... |
ORPHA:98028 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... |
OMIM:113000 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... |
OMIM:251450 |
Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... |
OMIM:607323 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... |
OMIM:249710 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... |
OMIM:313420 |
Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Coxa vara, Short palm, Limitation of joint mobility, Micromelia |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... |
ORPHA:93316 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... |
ORPHA:93360 |
Codas Syndrome |
|
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Coronal cleft vertebrae, Generalized j... |
OMIM:600373 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Cone-shaped epiphysis, Ovoid vertebral bodies, Coxa vara, Cone-shaped metacarpal epip... |
ORPHA:63446 |
Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:2633 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Kyphosis... |
OMIM:130060 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... |
ORPHA:1427 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhiz... |
OMIM:300863 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... |
OMIM:250230 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... |
ORPHA:166011 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Distal tapering femur, Laryngotracheomal... |
ORPHA:56305 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Short clavicles, Talipes e... |
OMIM:309350 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Ruvalcaba Syndrome |
|
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Limited elbow extension, Sh... |
OMIM:180870 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... |
ORPHA:1354 |
Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Arachnodactyly, Kyphosis, Bilateral single transverse palmar cre... |
ORPHA:1548 |
Kyphomelic Dysplasia |
|
Micrognathia, Large hands, Bowing of the long bones, Abnormal form of the vertebral bodies, Missi... |
ORPHA:1801 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Increased sus... |
OMIM:259450 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Brachydactyly, Delayed ossification of carpal bones |
OMIM:618392 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis multiplex congenita, Congenital... |
OMIM:618291 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Platyspondyly |
ORPHA:93283 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation d... |
OMIM:609813 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Proximal placement of thumb, ... |
OMIM:314390 |
Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone mineral density, Short femur,... |
ORPHA:94068 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Metaphyseal Acroscyphodysplasia |
|
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... |
ORPHA:1240 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis |
OMIM:616471 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... |
ORPHA:2098 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Small epiphyses, Cervical instability, Laryngotracheomalacia, Abnormal vertebral mo... |
ORPHA:93346 |
Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Intrauterine growth retardation, Irregular vertebral endplates, Osteoporos... |
OMIM:234250 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
Acro-Renal-Ocular Syndrome |
|
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... |
ORPHA:959 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Arthrogryp... |
OMIM:611890 |
Odontochondrodysplasia |
|
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis,... |
ORPHA:166272 |
Autosomal Recessive Omodysplasia |
|
Micrognathia, Abnormality of femur morphology, Rhizomelia, Craniosynostosis, Abnormality of the m... |
ORPHA:93329 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
2-3 toe syndactyly, Hip contracture, Shortening of all distal phalanges of the fingers, Limb unde... |
OMIM:616809 |
Weismann-Netter Syndrome |
|
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Calv... |
OMIM:112350 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... |
OMIM:218600 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... |
ORPHA:2632 |
Omodysplasia 1 |
|
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Limited knee ext... |
OMIM:258315 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexion contractu... |
OMIM:618393 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Iliac crest serration, Posterior w... |
ORPHA:168549 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Talipes equinovarus, Limited elbow extension, Elbow flexion contracture, Micrognathia, Radioulnar... |
ORPHA:93359 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Occipital Horn Syndrome |
|
Short clavicles, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Platyspondyly, Gen... |
OMIM:304150 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
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Hip contracture, Talipes equinovarus, Arthrogryposis multiplex congenita, Knee flexion contractur... |
OMIM:600175 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Thrombocytopenia-Absent Radius Syndrome |
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Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Abnormal bon... |
OMIM:300244 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... |
ORPHA:56304 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Single transverse palmar crease, Rhizomelia, Broad toe, Osteoporosis, Short... |
OMIM:218330 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo... |
OMIM:601356 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Abnormal bone structure, Super... |
OMIM:215140 |
Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Ovoid vertebra... |
OMIM:102370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Talipes equinovarus, Small hand, Kyphosis, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Recurrent respiratory infections, Talipes equinovarus, Kyph... |
ORPHA:85288 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology |
ORPHA:1277 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... |
OMIM:223800 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Joint hypermobility, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Multip... |
OMIM:259420 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Metatarsus adductus, Broad hallux phalanx, Ulnar deviation of finger, Hypoplasia of the radius, E... |
ORPHA:2249 |
Kniest Dysplasia |
|
Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... |
OMIM:156550 |
Achondrogenesis Type 1A |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Short neck, Short foot, Short palm, Recurrent frac... |
ORPHA:93299 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol... |
ORPHA:536516 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa va... |
OMIM:313400 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Short lower limbs, Multiple prenatal fractures, Platyspondyly, ... |
OMIM:259440 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short neck, Short long bone, Brachydactyly |
ORPHA:221054 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Micrognathia, Limb undergrowth, Spontaneous neonatal pneumothorax, Osteopenia, Wide anterior font... |
OMIM:225410 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... |
OMIM:602875 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... |
ORPHA:83468 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... |
ORPHA:1508 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Micrognathia, Flexion contracture of toe, Abnormality of epiphysis morphology, Os... |
ORPHA:3409 |
Thanatophoric Dysplasia Type 1 |
|
Femoral bowing, Short greater sciatic notch, Aplasia/Hypoplasia of the lungs, Excessive wrinkled ... |
ORPHA:1860 |
Ck Syndrome |
|
Micrognathia, Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Abnormal digit mo... |
OMIM:300831 |
Multiple Osteochondromas |
|
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Spinal defo... |
ORPHA:321 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of femur morphology... |
ORPHA:3429 |
Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Intrauterine growth retardation, Abnormal sacroiliac joint morphology,... |
ORPHA:2655 |
Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Kyphosis, Long thumb, Aplasia of the distal phalanx of the 5th toe, Long hal... |
OMIM:618658 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Flat capital femoral epiphysis, Tapered finger, Irregular vertebral endplates, Kyphoscoliosis, Pr... |
OMIM:612350 |
Achondrogenesis Type 1B |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Short foot, Short neck, Micro... |
ORPHA:93298 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Atelosteogenesis Type I |
|
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... |
ORPHA:1190 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Micromelia, Hypoplastic ilia |
OMIM:600972 |
Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... |
OMIM:200600 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micrognathia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter, Limb u... |
OMIM:616897 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Adducted thumb, Knee flexion contracture, Slender finger, Kyphosis, Hip dislocation... |
ORPHA:75840 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Abnormal bone structure, Abnormalit... |
ORPHA:93160 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularit... |
OMIM:307800 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Talipes equinovarus, Hemivertebrae, Dysplastic sacrum, Hypoplastic ... |
OMIM:134780 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Shor... |
OMIM:215150 |
Ulbright-Hodes Syndrome |
|
Severe intrauterine growth retardation, Fibular aplasia, Micrognathia, Ovoid thoracolumbar verteb... |
ORPHA:3404 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Short fourth meta... |
ORPHA:457395 |
Bruck Syndrome |
|
Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, ... |
ORPHA:2771 |
Borjeson-Forssman-Lehmann Syndrome |
|
Widely spaced toes, Tapered finger, Shortening of all distal phalanges of the fingers, Kyphosis, ... |
OMIM:301900 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Hypoplastic inferior ilia, Arthritis, Kyphosis, Synostosis of joints, G... |
ORPHA:61 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short ph... |
OMIM:300106 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... |
OMIM:600081 |
Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253000 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebr... |
ORPHA:2347 |
Kniest Dysplasia |
|
Aplasia/hypoplasia of the extremities, Abnormal bone structure, Short long bone, Laryngotracheoma... |
ORPHA:485 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Abnormality of ... |
ORPHA:1842 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Intrauterine growth retardation, Osteoporosis, Abnormality of the cervical spine, K... |
ORPHA:48431 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Short neck, Scoliosis |
OMIM:300718 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Limb undergrowth, Joint contracture of the hand, Overlapping fingers, Camptodactyly, Micromelia |
OMIM:601016 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Honeycomb lung, Death in infancy, Desquamative interstitial pneu... |
OMIM:610921 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Limb joint contracture, Micrognathia, Intrauterine growth retardation,... |
ORPHA:284417 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... |
ORPHA:392 |
3M Syndrome |
|
Intrauterine growth retardation, Rocker bottom foot, Abnormality of the elbow, Congenital hip dis... |
ORPHA:2616 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Microcephaly-Micromelia Syndrome |
|
Abnormality of the hand, Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Cran... |
OMIM:251230 |
Ruvalcaba Syndrome |
|
Intrauterine growth retardation, Cone-shaped epiphysis, Abnormality of the elbow, Small hand, Pro... |
ORPHA:3121 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, C... |
OMIM:609128 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Broad long bones, Limb undergrowth, Multiple prenatal fractures, Platyspondyly, Cr... |
OMIM:166210 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253010 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... |
OMIM:610915 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Short lower limbs, Death in infancy, Bowing of the legs, Increa... |
OMIM:241500 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Cerebellar atrophy, Iron accumulation in substantia nigra, Abnormal autonomic nerv... |
ORPHA:329284 |
Achondrogenesis |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of bone mineral density, Short neck, M... |
ORPHA:932 |
Widow'S Peak Syndrome |
|
Arthralgia/arthritis, Arthralgia of the hip, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Hig... |
OMIM:314570 |
Acrodysostosis |
|
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Epiphyseal stippling, Shor... |
ORPHA:950 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Abnormality of the metaph... |
ORPHA:474 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Pulmonary hypoplasia, Talipes equinovarus, Bowing of the long bones, Neonatal death... |
OMIM:224410 |
Occipital Horn Syndrome |
|
Absent tibia, Rickets, Aplastic clavicle, Synostosis of joints, Brachydactyly, Osteomalacia, Brui... |
ORPHA:198 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Irregular epiphyses, Short finger, Metaphyseal widening, Rhizomelia, Platyspondyly, Mesomelia, Br... |
OMIM:612813 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... |
ORPHA:93315 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
Thalidomide Embryopathy |
|
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... |
ORPHA:3312 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Mesomelia-Synostoses Syndrome |
|
Micrognathia, Abnormality of femur morphology, Ulnar deviation of finger, Synostosis of carpal bo... |
ORPHA:2496 |
Ulnar Hypoplasia |
|
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... |
OMIM:191440 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu varum, Metaphyseal irregularity, Short ribs, Short long bone, Carpal ... |
OMIM:250420 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:274210 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... |
OMIM:300554 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Anterior scalloping of vertebral bodies, Short toe, Single interphalangeal crease... |
OMIM:611717 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... |
OMIM:184253 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Craniosynostosis,... |
ORPHA:2145 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Clinodactyly of the 5th finger, Congenital foot contractu... |
ORPHA:3454 |
Shashi-Pena Syndrome |
|
Kyphosis, Osteoporosis, Scoliosis, Deep palmar crease |
OMIM:617190 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Abnormal cartilage matrix, Talipes equinovarus, Epiphyseal stipp... |
ORPHA:86822 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara, Irregular, rachi... |
OMIM:184252 |
Mucolipidosis Iii Gamma |
|
Flat capital femoral epiphysis, Genu valgum, Kyphosis, Hyperlordosis, Joint stiffness, Short neck... |
OMIM:252605 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Intrauterine growth retardation, Patellar aplasia, Dislocated radial head, Hypoplasia of the radi... |
OMIM:617604 |
Sponastrime Dysplasia |
|
Abnormality of the vertebral column, Metaphyseal irregularity, Shallow acetabular fossae, Hip sub... |
ORPHA:93357 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Micrognathia, Coxa valga, Rickets, Excessive wrinkled skin, Avascular necrosis of the capital fem... |
ORPHA:1901 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Broad long bones, Pulmonary hypoplasia, Talipes equinovarus, Bowing of the legs, Li... |
ORPHA:1865 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral fusion, Talipes equinovarus, Sacral dimple, Short long bone, Vertebra... |
OMIM:618845 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Adducted thumb, Talipes equinovarus, Arthrogryposis multiplex congenita, Kyphosis, Flexion contra... |
OMIM:618484 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Scoliosis, Short neck, Clinoda... |
ORPHA:178148 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:369873 |
Short Stature-Obesity Syndrome |
|
Micrognathia, Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly |
OMIM:269870 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Ulnar deviation of the hand, Pulmonary hypoplasia, Abnormal lung lobation, Metaphys... |
OMIM:263210 |
Platyspondylic Dysplasia, Torrance Type |
|
Abnormality of the carpal bones, Genu varum, Pulmonary hypoplasia, Hypoplastic scapulae, Bowing o... |
ORPHA:85166 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... |
OMIM:241530 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Talipes equinovarus, Kyphosis, Hip dislocation, Scoliosis, Lumbar hyperlordosis |
OMIM:616756 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly |
OMIM:619479 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Kyphosis, Reduced bone mineral density, Prematurely aged appearance, Vertebral segm... |
ORPHA:2617 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Large hands, Abnormal form of the vertebral bodies, Erythema, Coarse metap... |
ORPHA:3219 |
Achondrogenesis, Type Ii |
|
Broad long bones, Hypoplastic iliac wing, Short ribs, Absent vertebral body mineralization, Still... |
OMIM:200610 |
Fibrochondrogenesis 1 |
|
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Hypoplas... |
OMIM:228520 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Kyphosis, Hip dysplasia, Short distal phalanx of finger, Scoliosis, Brach... |
ORPHA:1858 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... |
OMIM:271665 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Micromelia, Intrauterine growth retardation, Broad long bones, Short metacarpal, Abnormality of p... |
ORPHA:1422 |
Idiopathic Bronchiectasis |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Respiratory tract infection, Recurr... |
ORPHA:60033 |
Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Small epiphyses, Intervertebral space narrowing, Abnormality of the elbow, R... |
ORPHA:263463 |
Waardenburg Syndrome Type 3 |
|
Cutaneous finger syndactyly, Abnormality of the upper limb, Synostosis of carpal bones, Abnormali... |
ORPHA:896 |
Tetrasomy 5P |
|
Micrognathia, Talipes equinovarus, Long fingers, Short neck, Wide anterior fontanel, Cyanosis, Re... |
ORPHA:3309 |
Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Death in infancy, Bowing of the legs, Rhizomelia, Hypoplastic p... |
OMIM:610682 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Kyphosis |
ORPHA:2786 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Bowing of the legs, Rickets |
OMIM:146350 |
Asbestos Intoxication |
|
Hypoxemia, Subpleural honeycombing, Lung adenocarcinoma, Interlobular septal thickening, Pleural ... |
ORPHA:2302 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Micrognathia, Radial bowing, Vertebral wedg... |
OMIM:617866 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdle bone morphology,... |
ORPHA:2928 |
Infantile Systemic Hyalinosis |
|
Increased susceptibility to fractures, Osteoporosis, Telangiectasia of the skin, Osteopenia, Shor... |
ORPHA:2176 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Micrognathia, Tapered finger, Kyphosis, Clinodactyly, Brachydactyly |
OMIM:617061 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Desquamative interstitial pneumonitis, Interlobular septal thickening, Neonatal... |
OMIM:265120 |
Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Camptodactyly of finger, Joint stiffness, C... |
ORPHA:137834 |
Spondyloepiphyseal Dysplasia Congenita |
|
Talipes equinovarus, Delayed calcaneal ossification, Limitation of knee mobility, Atlantoaxial in... |
OMIM:183900 |
Hall-Riggs Syndrome |
|
Abnormality of epiphysis morphology, Limb undergrowth, Abnormality of the metaphysis, Platyspondy... |
ORPHA:2107 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Large hands, Scoliosis, Kyphosis, Tapered finger |
ORPHA:276630 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Metatarsus adductus, 2-3 toe syndactyly, 4-5 toe syndactyly, Lumbar kyphosis in infancy, Kyphosco... |
ORPHA:3041 |
Distal Monosomy 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormal form of the vertebral bodies, Small hand, Upper limb as... |
ORPHA:1597 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Death in infancy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
Masa Syndrome |
|
Hyperlordosis, Adducted thumb, Talipes equinovarus, Kyphosis |
OMIM:303350 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Enlargem... |
OMIM:264700 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Intrauterine growth retardation, Large hands, Long fingers, Reduced subcutaneous ad... |
OMIM:264090 |
Choanal Atresia |
|
Polydactyly, Craniosynostosis, Cyanosis, Recurrent respiratory infections, Tracheomalacia |
ORPHA:137914 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger s... |
OMIM:274000 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... |
ORPHA:140 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... |
OMIM:601559 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Abnormal autonomic nervous system physiology |
OMIM:300894 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pairs of ribs, Short... |
OMIM:117650 |
Clark-Baraitser syndrome |
|
Broad palm, Tapered finger, Genu valgum, Kyphosis, Short palm, Scoliosis, Joint laxity |
OMIM:300602 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality... |
ORPHA:582 |
Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Short phalanx of ... |
OMIM:615777 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Abnormal cartilage matrix, Pulmonary hypoplasia |
OMIM:245650 |
Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Enlargem... |
OMIM:277440 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Small hand, Kyphosis, Short foot, Short palm, Sc... |
ORPHA:238750 |
Pycnodysostosis |
|
Increased bone mineral density, Spondylolysis, Micrognathia, Intrauterine growth retardation, Gen... |
ORPHA:763 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, S... |
OMIM:224400 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Kyphosis, Tapered finger |
OMIM:618512 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the metaphysis, Platyspondyly, Kyphosis, Joint hy... |
ORPHA:93274 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... |
ORPHA:508533 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ky... |
OMIM:271510 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Monkey wrench femoral neck, 2-3 toe syndactyly, Micromelia, Single transverse palmar crease, Coro... |
OMIM:618870 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
C Syndrome |
|
Toe syndactyly, Micrognathia, Ulnar deviation of finger, Limb undergrowth, Fused sternal ossifica... |
OMIM:211750 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis, Arachnodactyly, Joint laxity |
OMIM:248760 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Joint hyperflexibility, Kyphosis |
ORPHA:1875 |
Dysostosis, Stanescu Type |
|
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphysis, Kyp... |
ORPHA:1798 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Adducted thumb, Shoulder dislocation, Arachnodactyly, Kyphosis, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Small hand, Kyphosis, Slender finger, Short foot, Clinodactyly of the 5th finger, Scoliosis |
OMIM:618443 |
Image Syndrome |
|
Metaphyseal dysplasia, Intrauterine growth retardation, Micromelia |
ORPHA:85173 |
X-Linked Hypophosphatemia |
|
Abnormality of lower-limb metaphyses, Abnormality of epiphysis morphology, Genu varum, Sacroiliac... |
ORPHA:89936 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Micrognathia, Intrauterine growth retardation, Pneumothorax, Cyanosis, Patellar hypopl... |
ORPHA:2257 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Flared iliac wing, Scoliosis, Anterior beaking o... |
OMIM:230650 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Recurrent lower respiratory tract infections, Rhizomelic arm shortening, Short metacarpal, Recurr... |
ORPHA:508542 |
Thanatophoric Dysplasia, Type I |
|
Short greater sciatic notch, Small abnormally formed scapulae, Bowing of the long bones, Metaphys... |
OMIM:187600 |
Atkin-Flaitz Syndrome |
|
Broad palm, Tapered finger, Genu valgum, Kyphosis, Short palm, Scoliosis, Joint laxity |
OMIM:300431 |
Nievergelt Syndrome |
|
Tarsal synostosis, Talipes equinovarus, Genu valgum, Mesomelia, Metatarsal synostosis, Radioulnar... |
OMIM:163400 |
Crisponi Syndrome |
|
Micrognathia, Death in infancy, Kyphosis, Limitation of joint mobility, Flexion contracture, Camp... |
ORPHA:1545 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Broad palm, Joint contracture of the hand, Congenital hip dislocation, Kyphosis, L... |
OMIM:300280 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, In... |
OMIM:610913 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Micromeli... |
ORPHA:2772 |
Schaaf-Yang Syndrome |
|
Narrow palm, Rocker bottom foot, Tapered finger, Small hand, Arthrogryposis multiplex congenita, ... |
OMIM:615547 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Fibrous dysplasia of ... |
ORPHA:249 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Clubbing, Cyanosis, Recurrent respiratory infections, Intraal... |
OMIM:610910 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... |
ORPHA:3258 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Osteoglophonic Dysplasia |
|
Broad metatarsal, Pseudoarthrosis, Broad palm, Hypoplastic scapulae, Short metatarsal, Increased ... |
OMIM:166250 |
Cole-Carpenter Syndrome |
|
Micrognathia, Intrauterine growth retardation, Bowing of the long bones, Abnormal form of the ver... |
ORPHA:2050 |
Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... |
OMIM:300009 |
Becker Nevus Syndrome |
|
Upper limb asymmetry, Kyphosis, Spina bifida occulta, Scoliosis, Abnormality of tibia morphology,... |
ORPHA:64755 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... |
OMIM:164900 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna |
OMIM:228940 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap... |
ORPHA:2502 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Genu valgum, Reduced bone mineral density, Short neck, Spina bifida occulta |
ORPHA:2983 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Recurrent lower... |
OMIM:619632 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Mesomelia, Broad thumb, Short neck, Lumbar hyperlordosis, Brachydactyly, Joint laxity |
ORPHA:171866 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... |
OMIM:231070 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Talipes equinovarus, Kyphosis, Joint hypermobility, Hip dislocation, Fragile skin,... |
OMIM:617821 |
Marden-Walker Syndrome |
|
Micrognathia, Radioulnar synostosis, Intrauterine growth retardation, Talipes equinovarus, Joint ... |
OMIM:248700 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Talipes equinovarus, Cubitus valgus, Deviation of the 5th finger, Camptodactyly of finger, Narrow... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pathologic fracture, 11 pairs of ribs, ... |
OMIM:271640 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Decreased palmar creases, Narrow palm, Arthrogryposis multiplex congenita, Joint co... |
ORPHA:352490 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Kyphoscoliosis, Partial duplication of the phalanx of hand, Sacral dimple, Short di... |
OMIM:616331 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Osteopenia, Joint hypermobility, Vertebral compression fracture, Mesomelia |
OMIM:616229 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Genu valgum, Sandal gap, Micromelia, Joint hyperflexibility |
ORPHA:1035 |
Pelviscapular Dysplasia |
|
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... |
ORPHA:93333 |
Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Ulnar-Mammary Syndrome |
|
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Hypopla... |
OMIM:181450 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Cervical vertebral dysplasia, Camptodactyly of finger, Short humerus, Irregul... |
ORPHA:3455 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Pulmonary hypoplasia, Abnormality of epiphysis morphology, Bowing of the long bones... |
ORPHA:50945 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Knee flexion contracture, Sandal gap, Kyphosis, Flexion contracture of... |
OMIM:619040 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Hidrotic ectodermal dysplasia, Kyphosis, Camptodactyly of finger, Scoliosis, Join... |
ORPHA:1883 |
Osteogenesis Imperfecta, Type Xi |
|
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... |
OMIM:610968 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema, Flexion contracture, Camptodactyly, Recurrent respiratory infections, M... |
OMIM:610015 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis |
ORPHA:505652 |
Cousin Syndrome |
|
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... |
OMIM:260660 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Abnormal brainstem MRI signal intensity, Petechiae |
ORPHA:51188 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Micrognathia, Postaxial polydactyly, Broad distal phalanx of finger, Kyphosis, Sandal gap, Sacral... |
OMIM:615761 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H... |
OMIM:602418 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Dysplastic sacrum, Short ribs, Iliac crest serration, Severe platyspondyly, ... |
OMIM:613320 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Triceps weakness, Weakness of the intrinsic hand muscles, Shoulder girdl... |
ORPHA:98913 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, 11 pairs of ribs, Iliac c... |
OMIM:250220 |
Congenital Myasthenic Syndrome |
|
Spinal deformities, Kyphoscoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocatio... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Spinal deformities, Kyphoscoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocatio... |
ORPHA:98914 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pyoderma, Bronchiectasis, Recurrent bronchopulmonary infections, Reduced delayed hypersensitivity... |
OMIM:242700 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Death in infancy, Short ribs, Hip dislocation, Postaxial hand polydactyly, Pulmonar... |
OMIM:241800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Recurrent respiratory infections, Flexion contracture, Short humerus, Short femur |
ORPHA:17 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Intrauterine growth retardation, Abnormal form of the ve... |
ORPHA:2311 |
Patterson Pseudoleprechaunism Syndrome |
|
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Hypoplasia of the odontoid process, Palmop... |
OMIM:169170 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Spinal canal stenosis, Genu varum, Tibial bowing, Enlargement of the wrists, Abnormal sacroiliac ... |
ORPHA:289176 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Prematurely aged appearance, Clubbing of toes, Abnorm... |
ORPHA:1318 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Micrognathia, Toe syndactyly, Broad hallux phalanx, Abnormality of... |
ORPHA:3082 |
Hypomelanosis Of Ito |
|
Kyphosis, Radial deviation of finger, Syndactyly, Scoliosis, Hand polydactyly, Clinodactyly |
OMIM:300337 |
Mucopolysaccharidosis, Type Vii |
|
Metatarsus adductus, Chronic bronchitis, Talipes equinovarus, Anterior beaking of lumbar vertebra... |
OMIM:253220 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Micrognathia, Tibial bowing, Rocker bottom foot, Congenital bilateral hip dislocation, Limb under... |
ORPHA:453510 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Small hand, Scoliosis, Kyphosis |
OMIM:617435 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Limited elbow extension, Abnormalit... |
ORPHA:175 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Intrauterine growth retardation, Hypoplastic scapulae, Hemiver... |
ORPHA:958 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Czech Dysplasia |
|
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... |
OMIM:609162 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Limited pronation/supination of forearm, Broad long bones, Abnormal metatarsal morphology, Cubitu... |
ORPHA:163654 |
Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Short iliac bones, Aplastic pubic bones, Short ribs, Unossified sacrum... |
ORPHA:3003 |
Gm1 Gangliosidosis |
|
Abnormal diaphysis morphology, Abnormality of epiphysis morphology, Limb undergrowth, Abnormal fo... |
ORPHA:354 |
Mucolipidosis Ii Alpha/Beta |
|
Talipes equinovarus, Lower thoracic interpediculate narrowness, Pathologic fracture, Beaking of v... |
OMIM:252500 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Acrocyanosis, Clinodactyly of the 5th finger, Joint contracture of ... |
OMIM:614407 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Talipes equinovarus, Recurrent lower respiratory tract infections, Kyphosis, Hip dislocation, Spi... |
OMIM:254090 |
Hypertrichosis Cubiti |
|
Rhizomelia, Abnormality of the elbow, Micromelia, Joint hyperflexibility |
ORPHA:2220 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Bowing of the long bones, Generalized joint laxity, Platyspondyly, Osteopenia, Genu... |
OMIM:613848 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Limb undergrowth, Kyphoscoliosis, Osteopenia, Hip dislocation, F... |
OMIM:618005 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Irregular epiphyses, 2-3 toe syndactyly, Rhizomelia, Metaphyseal irregularity, Knee flexion contr... |
OMIM:618162 |
Riboflavin Transporter Deficiency |
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Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy... |
ORPHA:97229 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Short middle phalanx of finger, Intrauterine growth retardation, Abnormality of the elbow, Synost... |
ORPHA:1005 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... |
ORPHA:2021 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Enlargement ... |
ORPHA:289157 |
Interstitial Pneumonitis, Desquamative, Familial |
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Type II pneumocyte hypertrophy, Cyanosis, Desquamative interstitial pneumonitis, Recurrent upper ... |
OMIM:263000 |
Mental Retardation, Autosomal Dominant 57 |
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Joint hypermobility, Craniosynostosis, Scoliosis, Kyphosis |
OMIM:618050 |
Marinesco-Sjogren Syndrome |
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Short metatarsal, Cubitus valgus, Kyphosis, Short metacarpal, Flexion contracture, Coxa valga, Sc... |
OMIM:248800 |
Osteogenesis Imperfecta, Type Iv |
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Biconcave flattened vertebrae, Increased susceptibility to fractures, Reduced bone mineral densit... |
OMIM:166220 |
Birt-Hogg-Dubé Syndrome |
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Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Brachyolmia Type 3 |
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Proximal femoral metaphyseal irregularity, Platyspondyly, Kyphosis, Radial deviation of finger, S... |
OMIM:113500 |
Multiple System Atrophy |
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Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... |
ORPHA:102 |
Mental Retardation, Autosomal Dominant 26 |
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Decreased palmar creases, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis |
OMIM:615834 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
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Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Al-Gazali Syndrome |
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Micrognathia, Broad distal phalanx of finger, Wrist flexion contracture, Osteopenia, Recurrent pn... |
OMIM:609465 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... |
ORPHA:85167 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Micrognathia, Kyphosis, Fused cervical vertebrae, Hyperlordosis, Short neck, Abnormal hip bone mo... |
ORPHA:2522 |
Poland Syndrome |
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Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Short... |
ORPHA:2911 |
Fanconi Renotubular Syndrome 3 |
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Bowing of the legs, Rickets |
OMIM:615605 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Abnormality of the metaphysis, Kyphosis, Genu valgum, Ovoid vertebral bodie... |
ORPHA:583 |
Wolfram Syndrome, Mitochondrial Form |
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Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Pulmonary Capillary Hemangiomatosis |
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Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Cyanosis, Pulmona... |
ORPHA:199241 |
Sjögren-Larsson Syndrome |
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Erythema, Kyphosis, Urticaria, Joint stiffness, Scoliosis |
ORPHA:816 |
Acute Interstitial Pneumonia |
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Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Bronchiectasis, Interlobular septal thicken... |
ORPHA:79126 |
Poems Syndrome |
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Sclerosis of foot bone, Sclerosis of hand bone, Acrocyanosis, Metaphyseal sclerosis, Clubbing of ... |
ORPHA:2905 |
Harrod Syndrome |
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Intrauterine growth retardation, Arachnodactyly, Kyphosis, Abnormality of pelvic girdle bone morp... |
ORPHA:2115 |
Mesomelic Dysplasia, Kantaputra Type |
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Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia |
OMIM:156232 |
Attrv30M Amyloidosis |
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Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Stüve-Wiedemann Syndrome |
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Intrauterine growth retardation, Talipes equinovarus, Metaphyseal widening, Thickened cortex of l... |
ORPHA:3206 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Bowing of the legs, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Hypophosphat... |
ORPHA:157215 |
Phocomelia, Schinzel Type |
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Fibular aplasia, Micrognathia, Radial bowing, Intrauterine growth retardation, Hand oligodactyly,... |
ORPHA:2879 |
Autosomal Dominant Hypophosphatemic Rickets |
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Osteomalacia, Bowing of the legs, Rickets |
ORPHA:89937 |
Opsismodysplasia |
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Metaphyseal cupping, Rhizomelia, Short foot, Severe platyspondyly, Recurrent respiratory infectio... |
OMIM:258480 |
Camurati-Engelmann Disease |
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Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... |
ORPHA:1328 |
Tarp Syndrome |
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Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot, Postaxial... |
ORPHA:2886 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... |
ORPHA:440354 |
Scapuloperoneal Spinal Muscular Atrophy |
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Metatarsus adductus, Scapular muscle atrophy, Talipes equinovarus, Small hand, Kyphosis, Hip dysp... |
OMIM:181405 |
Typical Nemaline Myopathy |
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Micrognathia, Genu varum, Arthrogryposis multiplex congenita, Genu valgum, Kyphosis, Hip dislocat... |
ORPHA:171436 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Ankylosis, Bowing of the long bones, Osteoporosis, Kyphosis, Increased bone mineral density, Recu... |
OMIM:239000 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Hypoplastic scapulae, Kyphosis, Death in early adulthood, Scoliosis, Micromelia |
ORPHA:79107 |
Pulmonary Alveolar Microlithiasis |
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Hypoxemia, Subpleural interstitial thickening, Bronchiectasis, Interlobular septal thickening, Pn... |
ORPHA:60025 |
Mucolipidosis Iii Alpha/Beta |
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Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... |
OMIM:252600 |
Dravet Syndrome |
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Limited knee extension, Tibial torsion, Cyanotic episode |
ORPHA:33069 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Cleidocranial Dysplasia |
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Aplastic clavicle, Short ribs, Absent frontal sinuses, Increased bone mineral density, Cone-shape... |
OMIM:119600 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormal intervertebral disk morphology, Rickets, Abnormal form of the vertebral bodies, Aplastic... |
ORPHA:2636 |
Cole-Carpenter Syndrome 2 |
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Platyspondyly, Osteopenia, Narrow iliac wing, Kyphosis, Coronal craniosynostosis, Microretrognath... |
OMIM:616294 |
Myopathy, Centronuclear, 2 |
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Talipes equinovarus, Kyphosis, Hyperlordosis, Flexion contracture, Scapular winging, Scoliosis |
OMIM:255200 |
Wieacker-Wolff Syndrome |
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Micrognathia, Talipes equinovarus, Proximal placement of thumb, Arthrogryposis multiplex congenit... |
OMIM:314580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Small hand, Sandal gap, Kyphosis, Short foot, Brachydactyly, Joint laxity |
OMIM:300354 |
Metaphyseal Chondrodysplasia, Jansen Type |
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