Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... |
ORPHA:93311 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Delayed closure of the anterior fontanelle, Microcephaly, Spina bifida occulta, Agenesis of corpu... |
OMIM:618736 |
Masa Syndrome |
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Lower limb spasticity, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, ... |
OMIM:303350 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Ck Syndrome |
|
Epicanthus, Slender build, Hyperlordosis, Microcephaly, Kyphosis, Almond-shaped palpebral fissure... |
OMIM:300831 |
Craniosynostosis 6 |
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Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera... |
OMIM:616602 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Brachyolmia Type 1, Hobaek Type |
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Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... |
OMIM:600561 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Dystonia, Ataxia, M... |
OMIM:616756 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... |
ORPHA:99642 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Synophrys, Hyperintensity of ce... |
OMIM:620317 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... |
ORPHA:2635 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Ove... |
ORPHA:500055 |
Slc35A2-Cdg |
|
Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Gas... |
ORPHA:356961 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Mucolipidosis Type Iii |
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Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies,... |
ORPHA:577 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral... |
ORPHA:306669 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Failure to thrive in infancy, Craniosynostosis, Short neck, Ankle flexion... |
ORPHA:284417 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormal vertebral morphology, Ventricul... |
OMIM:618709 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern,... |
OMIM:608716 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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High, narrow palate, Cavum septum pellucidum, Dilated third ventricle, Agenesis of corpus callosu... |
ORPHA:464738 |
Lissencephaly 4 |
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Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro... |
OMIM:614019 |
Osteochondrosis Of The Metatarsal Bone |
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Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Congenital foot contraction deformities, Hyperlordosis, Flexion contracture, Hip d... |
ORPHA:363454 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Reduced bone mineral density, Thin corpus callosum, Cerebral cortical atrophy, Scol... |
OMIM:620200 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis,... |
OMIM:615290 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern,... |
OMIM:619244 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Na... |
OMIM:602484 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... |
ORPHA:397715 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femu... |
OMIM:618291 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Absent eyelashes, S... |
ORPHA:544488 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basa... |
ORPHA:300570 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones... |
OMIM:618363 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Abnormal cerebral white matter morphology, Scoliosis, Limb hypertonia, Babins... |
ORPHA:565624 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
Ck Syndrome |
|
Long toe, Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Microcephaly, Almond-shaped palpebral... |
ORPHA:251383 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Ankle c... |
ORPHA:363654 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Unsteady gait, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia... |
OMIM:617054 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Microcephaly, Kyphosis, Cortical dysplasia, Impaired propri... |
ORPHA:319199 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Osteoarthritis, Abnormality of the elbow,... |
ORPHA:429 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstr... |
ORPHA:97244 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Microcephaly, Spastic diplegia, Lateral ventricle dilat... |
OMIM:619420 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Paresis of extensor muscles of the big toe, Somatic sensory dysfunc... |
ORPHA:99947 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Kyphosis, Osteoporosis, Abnormal pyramidal sign, Dysmetria, Long... |
ORPHA:48431 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o... |
OMIM:618167 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... |
ORPHA:2310 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Flared iliac... |
OMIM:230650 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Dysplastic corpus callosum, Abnormal ear morphology, Primary microcephaly |
OMIM:618010 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, High palate, Cubitus valgus, C... |
OMIM:610313 |
Familial Anetoderma |
|
High, narrow palate, Generalized joint laxity, Lumbar hyperlordosis, Abnormal tibia morphology |
ORPHA:228277 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Cerebral calcification, Kyphoscoliosis, Osteoarthritis, Gener... |
ORPHA:85198 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Small for gestational age, Ataxia, Microcephaly, Inability to walk,... |
ORPHA:79243 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... |
OMIM:619656 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte... |
OMIM:208230 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Temporal cortical atrophy, Paget disease of bone, Abnormal pelvi... |
OMIM:167320 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
Developmental And Epileptic Encephalopathy 36 |
|
Microcephaly, Hydrocephalus, Flexion contracture, Small hand, Abnormal pyramidal sign, Cerebral a... |
OMIM:300884 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hypertonia, High pal... |
OMIM:226980 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Lumbar hyperlordosis, Impaired pain sensation, Limited knee flexion, Impaired d... |
ORPHA:435387 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal... |
OMIM:611209 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Congenital ptosis, Gait disturbance, Difficulty walki... |
ORPHA:352470 |
Distal Deletion 10Q |
|
Clonus, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinodactyly of the 5th fing... |
ORPHA:96148 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... |
OMIM:616583 |
Malan Overgrowth Syndrome |
|
Slender long bone, Lateral ventricle dilatation, High palate, Scoliosis, Hypoplasia of the corpus... |
ORPHA:420179 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Epicanthus, Microcephaly, Kyphosis, Osteoporosis, Irregular vertebral endp... |
OMIM:234250 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Gastrointestinal hemorrhage, Abnormal intervertebral disk morphology, Intestinal pse... |
ORPHA:85446 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Ptosis, Brachydactyly, Microcephaly, Hyperlordosis, Abnormal metacarpal morphology, Abnormal thum... |
ORPHA:2511 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, Tongue tremor, High ... |
OMIM:618524 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Dystonia, Spas... |
OMIM:619966 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Bone cyst, Babinski sign, Cerebral atrophy, Leukoen... |
OMIM:221770 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Tip-toe gait, Gait... |
OMIM:617404 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... |
ORPHA:457395 |
Fetal Akinesia Syndrome, X-Linked |
|
Blepharophimosis, Narrow palpebral fissure, Telecanthus, Agenesis of corpus callosum |
OMIM:300073 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hand tremor, Limb ataxia, Congenital contra... |
OMIM:607596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hyperlordosis, Microcephaly, Inability to walk, Flexion contracture, Hip dislocation, Macroglossi... |
OMIM:613156 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Waddling gait, Unsteady gait, Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Frequent falls |
OMIM:300718 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Sparse eyebrow, Agenesis of corpus callosum, Blepharophimosis, Downslanted palpeb... |
OMIM:618286 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Hyperlordosis, Achilles tendon contracture, Tip-toe gait, High palate, Scoliosis, ... |
OMIM:620389 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... |
OMIM:619725 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... |
OMIM:256050 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis, Joint contracture of the hand |
OMIM:611067 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, High, narrow palate, Flexion contracture, Knee flexion contracture, ... |
ORPHA:536516 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... |
OMIM:616007 |
Pontocerebellar Hypoplasia, Type 12 |
|
Rocker bottom foot, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Overlap... |
OMIM:618266 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Telecanthus, Short stature, Simplified gyral pattern, Decreased body weight, Primary microcephaly... |
OMIM:616681 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... |
OMIM:615938 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... |
OMIM:255600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Congenital fibr... |
OMIM:610031 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Apraxia, Ataxia, Babinski sign, Leukoencephalopathy, Hand tremor, Spasticity, Lateral ventricle d... |
OMIM:615889 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Thoracic kyphosis, High palate, Abnormal bone ossification, Abnormal femoral neck/hea... |
ORPHA:163649 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Metaphyseal widening, Craniofacial osteosclerosis, Agenesis of corpus cal... |
OMIM:618476 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, H... |
OMIM:610687 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... |
ORPHA:267 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Simplified gyral pattern, Action myoclonus, Gait ataxia, Myoclonus, Scoliosis, Micro... |
OMIM:616540 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... |
OMIM:255800 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Dilated fourth ventricle, Highly arched eyebrow, Microcephaly, Synophrys, Lateral v... |
OMIM:617751 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Short stature, Macrotia, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus c... |
OMIM:617090 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Joint hype... |
ORPHA:1803 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Microcephaly, Hype... |
OMIM:616817 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo... |
ORPHA:3078 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Joint hypermobility, Postaxial polydactyly, Microcephaly, ... |
OMIM:616362 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:618276 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... |
OMIM:609324 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, 2-3 toe syndactyly, Upslanted palpebral fissure, Lob... |
OMIM:613443 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Thoracic scoliosis, Hyperlordosis, Achilles tendon contracture, Limited shoulder m... |
ORPHA:62 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Long eyelashes, Scoliosis, H... |
OMIM:618577 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... |
ORPHA:63446 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Ataxia, Hyperlordosi... |
OMIM:253010 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Palatal tremor, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI s... |
ORPHA:363717 |
Pontocerebellar Hypoplasia, Type 13 |
|
Epicanthus, Microcephaly, Inability to walk, Clubbing, Gait ataxia, Lateral ventricle dilatation,... |
OMIM:618606 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Spinal rigidity, Hyperlordosis, Rigidity, Hypertonia, High palate, Scoliosis, Dysp... |
OMIM:161800 |
Aicardi Syndrome |
|
Dandy-Walker malformation, Block vertebrae, Proximal placement of thumb, Microcephaly, Hiatus her... |
OMIM:304050 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis |
ORPHA:1538 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Gastroesophageal reflux, Ataxia, Overweight, 2-3 toe syndactyly, Obesity, Upper limb spas... |
OMIM:619229 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ... |
OMIM:620315 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Waddli... |
ORPHA:94068 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Holoprosencephaly 5 |
|
Syntelencephaly, Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holopros... |
OMIM:609637 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, High palate, Sc... |
OMIM:619995 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of th... |
ORPHA:319195 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... |
ORPHA:157973 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal s... |
OMIM:608728 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Hip joint hypermobility, Bowing of the legs, Kyphosis, Hydro... |
ORPHA:15 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abno... |
ORPHA:1856 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limited elbow extension |
ORPHA:156728 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Caudate atrophy, Exaggerated startle response, Clonu... |
OMIM:615574 |
Masa Syndrome |
|
Short stature, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Ataxia, Cerebral palsy, Hemiplegia/hemiparesis, Hydrocephalus, Limitation... |
ORPHA:99966 |
Corpus Callosum, Agenesis Of |
|
Growth delay, Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair... |
ORPHA:2185 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Joint dislocation, Ventriculomegaly, Monkey wrench femoral neck, Absent septum pell... |
OMIM:618870 |
Wieacker-Wolff Syndrome |
|
Dystonia, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Hip dis... |
OMIM:314580 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Epicanthus, Cerebral calcification, Hyperlordosis, High, narrow p... |
ORPHA:2780 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Epicanthus, Kyphoscoliosis, Reduced cerebral white matter volume, Sparse eyebrow, Parietal cortic... |
OMIM:620075 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Bowing of the... |
ORPHA:1798 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, Hand tremor, Dysmetria, Thoracic ky... |
ORPHA:3041 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Epicanthus, Craniosynostosis, Short neck, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:1516 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615937 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... |
ORPHA:93351 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal ph... |
ORPHA:2787 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Upslanted p... |
OMIM:615761 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Epicanthus, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Gastroesophageal ref... |
OMIM:300434 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... |
OMIM:277590 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Encephalomalacia, Gastroesophageal reflux, Decereb... |
ORPHA:354 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Waddling gait, Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip ost... |
OMIM:165800 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ... |
OMIM:618453 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Overlapping toe, Kyphoscoliosis, Microcephaly, Perisylvian polymicrogyr... |
OMIM:600118 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Cerebral palsy, Flexion contracture, Poor gross motor coordination... |
ORPHA:2148 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Hyperlordosis, Babinski sign, Calcaneovalgus deformity, Arthrogryposis multiple... |
OMIM:162370 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Bone cyst, Limitation of joint mobility, Chorea, Functiona... |
ORPHA:2770 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Microcephaly, Short neck, Kyphosis, Inability to walk, Cerebral atrophy, Hip ... |
OMIM:611890 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spi... |
ORPHA:582 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ataxia, Wide anterior fontanel, Pyloric stenosis, Submucous cleft har... |
ORPHA:457279 |
Fried Syndrome |
|
Cerebral calcification, Hydrocephalus, Spastic diplegia, High palate, Gait disturbance, Scoliosis |
ORPHA:85335 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Short stature, Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy... |
OMIM:618492 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum, Ptosis |
OMIM:618197 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... |
OMIM:146000 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... |
OMIM:600348 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hip dislocation, Hip dysplasia, Hypertonia, Gastroesophageal reflux, Arthrogryposi... |
ORPHA:250994 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis, Bilateral ptosis, High palate, Gait disturbance, Ptosis |
OMIM:614198 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Synophrys, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Ataxia, Thoracol... |
OMIM:618443 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser... |
OMIM:607326 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Epicanthus, Small for gestational age, Congenital bilateral hip dislocation |
ORPHA:85288 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Hypertonia, High ... |
OMIM:615485 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Telecanthus, Short stature, Microcephaly, Upslanted palpebral fissure, Recurrent otit... |
OMIM:615286 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Bifid uvu... |
OMIM:615777 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bo... |
ORPHA:52430 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Hydrocephalus, High, narrow palate, Joint hyperflexibility, Shoulder di... |
ORPHA:2181 |
Gm1-Gangliosidosis, Type Ii |
|
Ventriculomegaly, Ataxia, Joint stiffness, Coxa valga, Protruding tongue, Spastic tetraplegia, Ce... |
OMIM:230600 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Gastroesophageal reflux, Medial flaring of the eyebrow, Ataxia, Scoliosis, Acetabula... |
OMIM:619833 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Craniosynostosis, Preaxial ... |
ORPHA:380 |
Pineocytoma |
|
Abnormal eyelid morphology, Hydrocephalus, Difficulty walking, Episodic ataxia, Increased CSF pro... |
ORPHA:251912 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Reduced cerebral white matter volume, Kyphoscoliosis, Microcephaly, Inability to walk, Spastic pa... |
OMIM:617977 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... |
OMIM:183900 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Smith-Mccort Dysplasia 2 |
|
Enlarged interphalangeal joints, Short metacarpal, Broad femoral neck, Hyperlordosis, Short neck,... |
OMIM:615222 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Failure to thrive, Rocker bottom foot, Li... |
ORPHA:79474 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Cerebral palsy, Reduced cerebral white matter volume, Kyphoscoliosis, Corpus callosum atrophy, Un... |
OMIM:301107 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Spastic tetraparesis, Microcephaly, Basal ganglia calcification, Osteopor... |
OMIM:619487 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Posteriorly rotated ears, Low-set ears, Conjunctival hyperemia, Agenesis of corpus ca... |
OMIM:619548 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Delayed cranial suture closure, Craniosynostosis, 1-3 toe syn... |
OMIM:175700 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Kyphosis, Hip dysplasia, Tongue fasciculations, Failure to thrive, Progressive microcephaly |
OMIM:620007 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat... |
OMIM:256850 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Microcephaly, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal py... |
ORPHA:500180 |
Three M Syndrome 3 |
|
Small for gestational age, Microcephaly, Hyperlordosis, Increased vertebral height, Short neck, S... |
OMIM:614205 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Microcephaly, Inability to walk, Cleft palate, Shortening of all distal ph... |
OMIM:615716 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer... |
OMIM:617668 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Wormian bones, Short 4th ... |
OMIM:619638 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Proximal placement of thumb, Short neck, Large fontanelles, Platyspondy... |
ORPHA:93267 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Microcephaly, Hydrocephalus, La... |
OMIM:612940 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Hyperlordosis, Distal joint laxity, Knee flexion contracture, High palate, Scolios... |
OMIM:616228 |
Nemaline Myopathy 2 |
|
Waddling gait, Hyperlordosis, Spinal rigidity, Inability to walk, Flexion contracture, Cleft pala... |
OMIM:256030 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Ptosis, Microcephaly, Tapered finger, Kyphosis... |
OMIM:301900 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Lumbar hyperlordosis, Limb joint contracture, High palate, Scoliosis,... |
OMIM:255310 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Epicanthus, Failure to thrive in infancy, Cachexia, Microcephaly, Sh... |
OMIM:616801 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Gener... |
ORPHA:763 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Microcephaly, Flexion con... |
OMIM:215100 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v... |
OMIM:617296 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cach Syndrome |
|
Microcephaly, T2 hypointense thalamus, Flexion contracture, Truncal ataxia, Cerebral atrophy, Dys... |
ORPHA:135 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Proteus Syndrome |
|
Kyphoscoliosis, Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperos... |
OMIM:176920 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
Autosomal Dominant Spondylocostal Dysostosis |
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Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Cleft palate, Upslanted palp... |
ORPHA:1797 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Hydrocephalus, Autosomal Dominant |
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Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis |
OMIM:123155 |
Pseudodiastrophic Dysplasia |
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Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Arthrogryposis, Distal, Type 3 |
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Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneous finger syndactyly, Hi... |
OMIM:114300 |
Cole-Carpenter Syndrome 2 |
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Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Hydrocephalus, Platyspondyly, Hi... |
OMIM:616294 |
Alexander Disease |
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Osteopenia, Cerebral calcification, Clonus, Short neck, Aqueductal stenosis, Tremor, Chorea, Abno... |
ORPHA:58 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Abnormal bone os... |
ORPHA:93315 |
Alg2-Cdg |
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Abnormal basal ganglia MRI signal intensity, Epicanthus, Microcephaly, Lateral ventricle dilatati... |
ORPHA:79326 |
Mucolipidosis Iii Gamma |
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Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Genu valgum... |
OMIM:252605 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Joint stiffness, Flexion contracture, Diffic... |
OMIM:609308 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... |
ORPHA:488627 |
Oculoskeletodental Syndrome |
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Metaphyseal dysplasia, Epicanthus, Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, ... |
ORPHA:557003 |
Odontochondrodysplasia 1 |
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Biconvex vertebral bodies, Short metacarpal, Genu recurvatum, Brachydactyly, Metaphyseal widening... |
OMIM:184260 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Cerebral atrophy, Conductive hearing impairment, Agenesi... |
ORPHA:85179 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
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Joint laxity, Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Three M Syndrome 1 |
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Joint dislocation, Thick eyebrow, Small for gestational age, Hyperlordosis, Short neck, Increased... |
OMIM:273750 |
Braddock-Carey Syndrome 1 |
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Telecanthus, Hyperlordosis, Microcephaly, Small hand, Spastic diplegia, Cleft palate, Anteriorly ... |
OMIM:619980 |
Cerebrooculofacioskeletal Syndrome 3 |
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Microcephaly, Low-set ears, Intrauterine growth retardation, Agenesis of corpus callosum, Ventric... |
OMIM:616570 |
Greenberg Dysplasia |
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Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Mosaic Trisomy 1 |
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Thoracic scoliosis, Finger clinodactyly, Congenital bilateral ptosis, Absent distal interphalange... |
ORPHA:1692 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Zimmermann-Laband Syndrome 3 |
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Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophrys, Absent di... |
OMIM:618658 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Inability to walk, Parapa... |
ORPHA:2822 |
Bilateral Generalized Polymicrogyria |
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Oculogyric crisis, Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, S... |
ORPHA:208447 |
Kniest Dysplasia |
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Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Ptosis, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocephaly, Agenes... |
OMIM:619955 |
Bethlem Myopathy 2 |
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Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Joint laxity, Epicanthus, Arachnodactyly, Ataxia, Hyperlordosis, Almond-shaped palpebral fissure,... |
OMIM:300986 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Telecanthus, Broad hallux, Deviation of the hallux, Hamartoma of tongue... |
ORPHA:434179 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Epicanthus, Thick eyebrow, Small for gestational age, Cerebral palsy, Highly arched eyebrow, Micr... |
OMIM:615834 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Autosomal Dominant Brachyolmia |
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Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Osteopenia, Metaphyseal widening, Knee dislocation, High palate, Gastroesophageal reflux, Clinoda... |
OMIM:620083 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... |
OMIM:602557 |
Tenorio Syndrome |
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Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Cerebral palsy, Delayed cranial suture clos... |
OMIM:616260 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Broad toe, Epicanthus, Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Macro... |
OMIM:616900 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Craniofacial hyperostosis, Microcephaly, Hyperlordosis, Limitation of joint mobility, Tracheoesop... |
ORPHA:3068 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Epicanthus, Hyperlordosis, Abnormal form of the vertebral bodies... |
ORPHA:2831 |
Roussy-Lévy Syndrome |
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Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... |
ORPHA:3115 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Cerebral cortical atrophy, Hearing impairment |
ORPHA:401830 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Elbow flexion contra... |
OMIM:619470 |
Autosomal Recessive Primary Microcephaly |
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Microcephaly, Pachygyria, Upslanted palpebral fissure, Hypoplasia of the frontal lobes, Abnormal ... |
ORPHA:2512 |
Diastrophic Dysplasia |
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Joint dislocation, Cerebral calcification, Proximal placement of thumb, Abnormal form of the vert... |
ORPHA:628 |
Anauxetic Dysplasia 1 |
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Joint laxity, Hip contracture, Brachydactyly, Lumbar hyperlordosis, Short neck, Hypoplastic ilia,... |
OMIM:607095 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... |
ORPHA:206546 |
Mulchandani-Bhoj-Conlin Syndrome |
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Epicanthus, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly, Failure to thrive |
OMIM:617352 |
Arthrogryposis, Distal, Type 5D |
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Ptosis, Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited k... |
OMIM:615065 |
Congenital Disorder Of Glycosylation, Type Iik |
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Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... |
OMIM:614727 |
Noonan Syndrome 14 |
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Epicanthus, Lacrimal duct stenosis, Short neck, Sparse eyebrow, Kyphosis, High, narrow palate, La... |
OMIM:619745 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Trigonocephaly 1 |
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Epicanthus, Craniosynostosis, Microcephaly, High, narrow palate, Synophrys, Upslanted palpebral f... |
OMIM:190440 |
Hao-Fountain Syndrome |
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Hallux valgus, Speech apraxia, Large fontanelles, Apraxia, Clinodactyly of the 5th finger, Delaye... |
OMIM:616863 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Hyperlordosis, Tremor, Limitation of joint mobility, Hypertonia, Gait disturbance, Cerebral corti... |
ORPHA:1192 |
Cohen Syndrome |
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Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Decreased response to growth hormone ... |
OMIM:216550 |
Chst3-Related Skeletal Dysplasia |
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Waddling gait, Short metacarpal, Enlarged joints, Kyphoscoliosis, Highly arched eyebrow, Sparse e... |
ORPHA:263463 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Microcephaly, Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal hip bone mo... |
ORPHA:2522 |
Myopathy, Centronuclear, 2 |
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Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Ptosis |
OMIM:255200 |
Unilateral Hemispheric Polymicrogyria |
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Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... |
ORPHA:101071 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Osteopenia, Ptosis, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar sco... |
OMIM:616723 |
Nail-Patella Syndrome |
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Back pain, Impaired temperature sensation, Abnormal tibia morphology, Flexion contracture, Abnorm... |
ORPHA:2614 |
Huntington Disease-Like 2 |
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Caudate atrophy, Weight loss, Abnormal cerebral morphology, Cerebral cortical atrophy, Abnormal c... |
ORPHA:98934 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Rhizomelic Syndrome, Urbach Type |
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Abnormality of the knee, Brachydactyly, Short neck, Microcephaly, Kyphosis, Abnormality of the hu... |
ORPHA:3098 |
Ollier Disease |
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Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... |
ORPHA:296 |
Typical Nemaline Myopathy |
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Waddling gait, Ptosis, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture,... |
ORPHA:171436 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Pro... |
OMIM:620001 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Lethal Congenital Contracture Syndrome Type 1 |
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Recurrent fractures, Short neck, Limitation of joint mobility, Abnormality of the elbow, Abnormal... |
ORPHA:1486 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Lopes-Maciel-Rodan Syndrome |
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Caudate atrophy, Dystonia, Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyramidal sign, ... |
OMIM:617435 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip dislocation, Thick ... |
ORPHA:357058 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Thoracic scoliosis, Clonus, Osteopathia striata, High palate, Finger jo... |
OMIM:212720 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Dystonia, Ataxia, Microcepha... |
ORPHA:464282 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, O... |
ORPHA:3409 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Broad hallux, Microcephaly, Lateral ventricle dilatation, High palate, Hypoplasia of ... |
OMIM:614105 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Radial head subluxation, Short toe, C... |
OMIM:614078 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus ... |
OMIM:603387 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Hooded eyelid, 2-3 toe syndactyly, Thoracic kyphosis, Short finger, Clinoda... |
OMIM:619467 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria, Short palm |
OMIM:300982 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Narrow palpebral fissure, Lateral ventricle dilata... |
OMIM:614219 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Impaired vibration ... |
OMIM:614409 |
Myasthenic Syndrome, Congenital, 5 |
|
Ptosis, Dysphagia, Scoliosis, Hyperlordosis |
OMIM:603034 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Hyperlordosis, Microcephaly, Tapered finger, Abnormal joint morphology, ... |
ORPHA:3130 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Microcephaly, ... |
OMIM:602471 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Craniosynostosis, Hyperlordosis, Highly arched eyebrow, Limited pronation/su... |
ORPHA:293843 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Enlarged epiphyses, Epiphyseal dysplasia, Premature osteoarthritis, Cleft palate, Platyspondyly |
OMIM:184840 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Partial a... |
OMIM:210710 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Epicanthus, Osteomalacia, Joint stiffness, Coxa valga, Avascular n... |
ORPHA:1901 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Unsteady gait, Lumbar hyperlordosis, Difficulty walking, Ankle flexion contracture |
OMIM:613818 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Microcephaly, Kypho... |
ORPHA:352490 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Telecanthus, Short femur, Fractured radius, Small for gestational age, Short neck, Mu... |
OMIM:616897 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... |
OMIM:614833 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Short neck, Tremor, Kyphosis, Synophrys, Small hand, Large fontanelles, Short foo... |
ORPHA:238750 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Microcephaly, Hyperlordosis, Ulnar deviation of fin... |
ORPHA:1387 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Ptosis, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Narrow palate... |
ORPHA:1323 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Obesity, High palate, Hypop... |
OMIM:619185 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Sparse eyebrow, Long fingers, Epiblepharon... |
OMIM:617557 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Short stature, Microcep... |
ORPHA:251056 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Hypertonia, High palate, Wrist flexion contracture, Increased bone mineral... |
ORPHA:800 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Communicating hydrocephalus, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosi... |
OMIM:617011 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... |
OMIM:615771 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Broad hallux, Small for gestational age, Highly arched eyebr... |
OMIM:614541 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Joint hyperflexib... |
ORPHA:2655 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Vertebral compressio... |
OMIM:112240 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Short neck, Mic... |
ORPHA:263487 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Epicanthus, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Hypoplastic ischia, Hyd... |
OMIM:617866 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa... |
OMIM:215150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Short neck, High, narrow palate, Hydrocepha... |
OMIM:620156 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral ptosis, Thoracic kyphosis, High palat... |
OMIM:619542 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Large fontanelles, Decreased skull ossification, Joi... |
ORPHA:2097 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Abnor... |
ORPHA:168549 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... |
OMIM:190350 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Megalencephaly, Wide anterior fontanel, Flared metaphys... |
OMIM:269300 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Epicanthus, Frontal polymicrogyria, Ataxia, Highly arched eyebr... |
OMIM:608629 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Hyp... |
ORPHA:488635 |
Cantu Syndrome |
|
Epicanthus, Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Curly eye... |
OMIM:239850 |
Steel Syndrome |
|
Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Scoliosis, Carp... |
OMIM:615155 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Waddling gait, Ankle flexion contracture, Hyperlordosis, Scoliosis |
OMIM:617760 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Microcephaly, Kyphosis, Congenital pyloric atresia, Reduced bone mineral density, Vertebral segme... |
ORPHA:2617 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Epicanthus, Short stature, Hearing impairment, Microcephaly, Sparse eyebrow, Downslanted palpebra... |
OMIM:619989 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Spastic tetraparesis, Hydrocephalus, ... |
ORPHA:171839 |
Cdkl5-Deficiency Disorder |
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Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Synophrys... |
ORPHA:505652 |
Osteogenesis Imperfecta, Type Xii |
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Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, H... |
OMIM:613849 |
Osteogenesis Imperfecta, Type Iii |
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Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Joint laxity, Sandal gap, Tremor, Kyphosis, Cortical dysplasia, Small hand, Simplified gyral patt... |
OMIM:300354 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Lateral Meningocele Syndrome |
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Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Hyperlordosis, Short neck, Kyphos... |
ORPHA:2789 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
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Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Christianson Syndrome |
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Thick eyebrow, Dystonia, Cachexia, Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of the corpus... |
ORPHA:85278 |
Baralle-Macken Syndrome |
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Tapered finger, Microcephaly, Kyphosis, High, narrow palate, Inability to walk, Obesity, Upslante... |
OMIM:619255 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Joint laxity, Waddling gait, Lumbar hyperlordosis, Flexion contracture, Knee flexion contracture,... |
ORPHA:353327 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility |
OMIM:618323 |
Saethre-Chotzen Syndrome |
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Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Ptosis, Epicanthus, Craniosyno... |
ORPHA:794 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
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Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Pachydermoperiostosis |
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Gastrointestinal hemorrhage, Ptosis, Osteomyelitis, Cerebral palsy, Peptic ulcer, Elevated circul... |
ORPHA:2796 |
Even-Plus Syndrome |
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Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Dysplastic corpus callosum, Synophrys, V... |
OMIM:616854 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
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Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... |
ORPHA:2848 |
Cartilage-Hair Hypoplasia |
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Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... |
ORPHA:175 |
Pelvis-Shoulder Dysplasia |
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Waddling gait, Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal pha... |
ORPHA:2839 |
Vitamin K Antagonist Embryofetopathy |
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Brachydactyly, Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Ep... |
ORPHA:1914 |
Juvenile Huntington Disease |
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Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, Weight loss, Gait ata... |
ORPHA:248111 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Impaired vibratory sensation, Epicanthus, Tremor, Dysplastic corpus callosum, Hypoesthesia, Obesi... |
OMIM:619737 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Increased intervertebral space, Opisthotonus, Hypertonia, Narrow greater ... |
ORPHA:508533 |
Geroderma Osteodysplasticum |
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Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Vitamin D-Dependent Rickets, Type 2A |
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Enlargement of the ankles, Bulging epiphyses, Epicanthus, Recurrent fractures, Bowing of the legs... |
OMIM:277440 |
3M Syndrome |
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Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Rocker bottom foot, Hyperlordo... |
ORPHA:2616 |
Osteopetrosis, Autosomal Recessive 1 |
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Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Short corpus callosum, Lateral ventricle dilatation, Ptosis |
OMIM:619972 |
Weiss-Kruszka Syndrome |
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Ptosis, Epicanthus, Hearing impairment, Highly arched eyebrow, Cupped ear, Protruding ear, Colpoc... |
OMIM:618619 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
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Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Choreoathetosis, Scoliosis, Dystonia... |
OMIM:618238 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Pla... |
OMIM:300863 |
Baraitser-Winter Syndrome 2 |
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Ptosis, Telecanthus, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Lissencepha... |
OMIM:614583 |
Infantile Sialic Acid Storage Disease |
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Osteopenia, Epicanthus, Hydrocephalus, Cerebral atrophy, High palate, Failure to thrive, Metaphys... |
OMIM:269920 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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Hyperlordosis, Falls, Gait disturbance, Slender build, Ptosis |
OMIM:615156 |
Congenital Muscular Dystrophy, Ullrich Type |
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Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion ... |
ORPHA:75840 |
Geroderma Osteodysplastica |
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Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... |
ORPHA:2078 |
Intellectual Disability And Myopathy Syndrome |
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Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Periventricular wh... |
OMIM:619719 |
Melnick-Needles Syndrome |
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Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
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Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr... |
ORPHA:2703 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Large for gestational age, Diffuse white matter abnormalities, Gait ... |
ORPHA:457359 |
Myopathy, Distal, 1 |
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Lumbar hyperlordosis, Tip-toe gait, Gait disturbance, High palate, Scoliosis |
OMIM:160500 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Epiphyseal stippling, Colpocephaly, Pachygyria |
OMIM:614870 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Medial flaring of the eyebrow, Probst bundles, Sandal gap, Hooded eyelid, Sparse eyelashes, High,... |
OMIM:612863 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Reduced cerebral white matter volume, Short neck, Synophrys, Irregular vertebral endplates, Poste... |
OMIM:610442 |
Bruck Syndrome 2 |
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Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
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Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Pulmonary Blastoma |
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Weight loss |
ORPHA:64741 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Epicanthus, Telecanthus, Overlapping toe, Delayed cranial suture closure, Thick eyebrow, Inabilit... |
OMIM:619383 |
Digeorge Syndrome |
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Pilonidal sinus, Microcephaly, High, narrow palate, Obesity, Cleft palate, Hemiparesis, High pala... |
OMIM:188400 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
Kleeblattschaedel |
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Hydrocephalus, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Ptosis |
ORPHA:1875 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... |
OMIM:136300 |
Melorheostosis With Osteopoikilosis |
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Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Achondroplasia |
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Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Microcephaly, Cerebral atrophy, Growth delay, Failure to thrive, Agenesis of corpus callosum |
OMIM:274270 |
Microphthalmia-Brain Atrophy Syndrome |
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Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Sp... |
ORPHA:77299 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Iliac crest serration, Small for gestational age, Short neck, Wide distal femoral metaphysis, Del... |
OMIM:613320 |
Maternal Uniparental Disomy Of Chromosome 1 |
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Ataxia, Delayed closure of the anterior fontanelle, Abnormal limb bone morphology, Epiphyseal sti... |
ORPHA:251009 |
Cerebrooculofacioskeletal Syndrome 1 |
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Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Rocker bottom foot, Kypho... |
OMIM:214150 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Babinski sign, Sp... |
OMIM:619847 |
Atypical Rett Syndrome |
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Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Small hand, ... |
ORPHA:3095 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Osteopenia, Lacrimal duct stenosis, Palpebral edema, Ataxia, Hyperlordosis, Dermatochalasis, Clin... |
ORPHA:221139 |
Weismann-Netter Syndrome |
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Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of... |
OMIM:613795 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Houge-Janssens Syndrome 1 |
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Congenital hip dislocation, Pyloric stenosis, Hydrocephalus, Gait ataxia, Scoliosis, Downslanted ... |
OMIM:616355 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Irregularity of vertebral bodies, Microcephaly, Hypoplasia of the odontoid process, Small hand, C... |
ORPHA:85172 |
Megalencephaly, Autosomal Dominant |
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Hydrocephalus, Megalencephaly |
OMIM:155350 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Recurrent fractures, ... |
ORPHA:2050 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Shashi-Pena Syndrome |
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Short metacarpal, Epicanthus, Highly arched eyebrow, Reduced cerebral white matter volume, Kyphos... |
OMIM:617190 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High... |
OMIM:304100 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Back pain, Waddling gait, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture... |
ORPHA:98863 |
Temple Syndrome |
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Small for gestational age, Overweight, Hydrocephalus, Flexion contracture, Small hand, Obesity, C... |
OMIM:616222 |
Chromosome 3Q13.31 Deletion Syndrome |
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Epicanthus, Proximal placement of thumb, Alobar holoprosencephaly, Kyphosis, Agenesis of corpus c... |
OMIM:615433 |
Horizontal Gaze Palsy With Progressive Scoliosis |
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Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared... |
OMIM:602111 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Lo... |
OMIM:617952 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Methylcobalamin Deficiency Type Cble |
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Syndactyly, Microcephaly, Hydrocephalus, Osteoporosis, Abnormal cerebral white matter morphology,... |
ORPHA:2169 |
Gorlin Syndrome |
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Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cerebral calcification, Hydrocephalus,... |
ORPHA:377 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Tapered finger, Kyphosis, Obesity, Scoliosis, Downslanted palpebral fissures |
ORPHA:276630 |
Polyrrhinia |
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Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Kyphosis, Oculomotor apraxia, Limitation of joint mobility, Congenital foot contractures, Scolios... |
ORPHA:3454 |
Familial Calcium Pyrophosphate Deposition |
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Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Flynn-Aird Syndrome |
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Cerebral calcification, Ataxia, Cachexia, Joint stiffness, Impaired pain sensation, Kyphosis, Bon... |
ORPHA:2047 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Long palpebral fissure, Lateral ventricle dilatation, Poor fine motor coordination |
OMIM:618330 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
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Ataxia, Impaired pain sensation, Kyphosis, High, narrow palate, Split hand, Unsteady gait, Obesit... |
OMIM:618124 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa vara, Femor... |
OMIM:608940 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
Lenz-Majewski Hyperostotic Dwarfism |
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High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... |
ORPHA:2658 |
Scapuloperoneal Spinal Muscular Atrophy |
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Torticollis, Broad-based gait, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Distal s... |
OMIM:181405 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Cerebrofacioarticular Syndrome |
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Osteopenia, Syndactyly, Epicanthus, Anal stenosis, Ataxia, Microcephaly, Blepharophimosis, Dyspla... |
ORPHA:314679 |
Opitz-Kaveggia Syndrome |
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Multiple joint contractures, Short neck, Partial agenesis of the corpus callosum, Anteriorly plac... |
OMIM:305450 |
Trichorhinophalangeal Syndrome Type 1 |
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Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of... |
ORPHA:77258 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed... |
OMIM:610968 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Liss... |
ORPHA:1528 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retardation |
OMIM:620135 |
Chromosome 10Q26 Deletion Syndrome |
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Epicanthus, Congenital hip dislocation, Lumbar hyperlordosis, Toe syndactyly, Craniosynostosis, S... |
OMIM:609625 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Spasti... |
OMIM:618890 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, High palate, Dislocated radial head, Joint laxity, Osteoporosi... |
OMIM:102500 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Ptosis, Hyperlordosis, Short neck, Symphalangism affecting the ... |
ORPHA:710 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss... |
OMIM:607155 |
O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Kyphosis, Abnormal cerebral white matter morphology, Downslanted palpebral fissur... |
OMIM:618512 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Simplified gyral pattern, Knee flexion contracture, Hypertonia, Wrist flexion contracture, Disloc... |
OMIM:610758 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment |
OMIM:617087 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98853 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Epicanthus, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:94065 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Spasticity, ... |
OMIM:619517 |
1Q44 Microdeletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Telecanthus, Intestinal malrotation, Microcephaly, Hydroceph... |
ORPHA:238769 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Narrow greater sciatic notch, Gastro... |
ORPHA:93316 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus c... |
OMIM:610015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Flexion contracture, Lateral ventricle di... |
OMIM:613154 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly |
ORPHA:3085 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fing... |
OMIM:609128 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Dystonia, Sparse eyelashes, Joint hypermobility, Joint... |
OMIM:617988 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Prominent metopic ridge, Ataxia, Kyphosis, Synophrys, Cleft palate, Gait disturbance, Scoliosis |
ORPHA:85317 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Microcephaly, Protruding tongue, Pachygyria, Dysplastic corpus callosum, Pr... |
OMIM:619179 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hydrocephalus, ... |
ORPHA:254516 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Short palm, Hypoplastic iliac w... |
OMIM:611717 |
Craniosynostosis 3 |
|
Hallux valgus, Ptosis, Sagittal craniosynostosis, Partial agenesis of the corpus callosum, Left u... |
OMIM:615314 |
Myotonia Permanens |
|
Epicanthus, Hyperlordosis, Limitation of joint mobility, Hypertonia, Gait disturbance, Dysphagia |
ORPHA:99735 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Pla... |
ORPHA:93274 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcif... |
OMIM:304340 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Sandal gap, 2-3 toe syndactyly, Lateral ventricle dilatation, Hypertonia, Joint c... |
OMIM:618914 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Cleft palate, Genu valgum, Joint hyperflexibility, Platyspondyly, Irregular... |
ORPHA:250984 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Synophrys... |
OMIM:613776 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital bilateral ptosis, Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched ... |
OMIM:609384 |
Ruvalcaba Syndrome |
|
Short metacarpal, Microcephaly, Kyphosis, Short metatarsal, Small hand, Short foot, Downslanted p... |
OMIM:180870 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly |
ORPHA:93283 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, Tremor, Synophrys, High palate, Short palm, Clinodactyly of the 5th finger, Obesity, ... |
ORPHA:85293 |
Emanuel Syndrome |
|
Sacral dimple, Ventriculomegaly, Congenital hip dislocation, Intestinal malrotation, Torticollis,... |
OMIM:609029 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Tongue atrophy, Hyperlordosis, Steppage gait, Gait disturbance, Tongue fas... |
OMIM:620285 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Lumbar hyperlordosis, Kyphoscoliosis, Flat capital femoral epiphysis, ... |
OMIM:271510 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal ganglia morphology,... |
ORPHA:157941 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Central Neurocytoma |
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Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Tinnitus |
ORPHA:73256 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lact... |
OMIM:616034 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Abnor... |
ORPHA:475 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bon... |
ORPHA:73 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe... |
OMIM:610915 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Rocker bottom foot, Short neck, Microcephaly, Kyphosis, Achilles tendon contract... |
OMIM:301041 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Joint laxity, Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Irregular iliac crest, ... |
OMIM:250420 |
Myopathy, Centronuclear, 1 |
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Ptosis, Flexion contracture, Hyperlordosis |
OMIM:160150 |
Neu-Laxova Syndrome |
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Osteopenia, Cerebral calcification, Abnormal eyelid morphology, Flexion contracture, Opisthotonus... |
ORPHA:2671 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Small for gestational age, Recurrent fra... |
OMIM:616229 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Microcephaly, Short neck, Dysphagia, Platyspondyly, Cone-shaped epiphyses of the ... |
OMIM:618958 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Cartilage-Hair Hypoplasia |
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Joint laxity, Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Sparse eyelashes, Agang... |
OMIM:250250 |
Anauxetic Dysplasia 3 |
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Broad eyebrow, Short metacarpal, Brachydactyly, Thoracolumbar kyphoscoliosis, Metaphyseal cupping... |
OMIM:618853 |
Foxg1 Syndrome |
|
Dystonia, Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesoph... |
ORPHA:561854 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Lumbar hyperlordosis, Cerebral calcification, Kyphoscoliosis, Short iliac ... |
OMIM:607944 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Sensorineural hearing impairment |
OMIM:616490 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Ataxia, Microcephaly, Coxa valga, Kyphosis, Flexion contracture, Short metatars... |
OMIM:248800 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastrointestinal dysmotility, Hemivertebrae, Simplified gyral pattern, Gastroesophageal reflux, B... |
ORPHA:500150 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Delayed closure of the anterior fontanelle, Microcephaly, Wide anterior fontanel, Hyd... |
OMIM:614886 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... |
OMIM:151050 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Joint hyperflexibility, Lower... |
OMIM:614898 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Clonus, Type II lissence... |
ORPHA:370959 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Cleft... |
ORPHA:220493 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Short neck, Tremor, Flexion contracture, Choreoathetosis, High palate, Wrist flexion contracture,... |
OMIM:300055 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... |
OMIM:276950 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, High palate, Prominent fingertip pads, Abnormal ve... |
OMIM:147920 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Cleft... |
ORPHA:220497 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Obesit... |
OMIM:300602 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Large fontan... |
ORPHA:1525 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98855 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Simplified gyral pattern, Anteriorly placed anus, Cutaneous ... |
OMIM:601390 |
Cdags Syndrome |
|
Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Rectourethral f... |
OMIM:603116 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Epicanthus, Telecanthus, Hydrocephalus, Cerebral atrophy, Slender long bone, High pal... |
OMIM:618590 |
Curry-Jones Syndrome |
|
Intestinal pseudo-obstruction, Agenesis of corpus callosum, Unicoronal synostosis, Lipomyelomenin... |
OMIM:601707 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short tibia, Genu... |
OMIM:607778 |
Alg6-Cdg |
|
Ataxia, Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing enteropat... |
ORPHA:79320 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Ost... |
ORPHA:2774 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bone morphology,... |
ORPHA:2204 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Sparse eyelashes, Small for gestational age, Spina bifida, Hyperlordosis, Microcep... |
OMIM:234100 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, High palate, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:618393 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Microcephaly, Hyperlordosis, Tremor, Chorea, Ina... |
OMIM:615356 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Limb dystonia, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrophy, L... |
ORPHA:572798 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Back pain, Lumbar hyperlordosis, Toe syndactyly, Decreased response to growth hormo... |
OMIM:619234 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Arm... |
ORPHA:300605 |
Frontorhiny |
|
Encephalocele, Ptosis, Epicanthus, Lumbar hyperlordosis, Pericallosal lipoma, Camptodactyly of fi... |
ORPHA:391474 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short neck, High, narrow palate, Hydrocephalus, Obesity, Cubitus valgus, Short 4th metacarpal |
ORPHA:2183 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater sciatic notch... |
OMIM:602271 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Achilles tendon contracture, Macroglossia,... |
ORPHA:353 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Inability to walk, Limitation... |
ORPHA:3101 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Tremor, Long fingers, Diffuse white matter abnormalities, Flexion contracture, In... |
OMIM:218000 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Shallow orb... |
OMIM:101200 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Cerebral calcification, Recurrent frac... |
ORPHA:1782 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Overweight, High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricl... |
OMIM:619575 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Small for gestational age, Fifth finger distal phalanx clinodactyly, Metopic suture p... |
ORPHA:3369 |
Atelosteogenesis Type I |
|
Joint dislocation, Telecanthus, Short femur, Malrotation of colon, Abnormal ossification involvin... |
ORPHA:1190 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Spastic tetrapl... |
OMIM:619302 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Microcephaly, Colpocephaly, Scoliosis, Polymicrogyria, Ptosis |
OMIM:618731 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, High palate, Sc... |
ORPHA:178148 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Synophrys, Truncal obesity, Gait disturbance, Scoliosis, Spasticity, Thick eyebrow |
ORPHA:2429 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Short stature, Microcephaly, Partial agenesis of the corpus callosum, S... |
OMIM:604804 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Coffin-Siris Syndrome 6 |
|
Epicanthus, Kyphoscoliosis, High, narrow palate, Cleft palate, Narrow palpebral fissure, Gastroes... |
OMIM:617808 |
Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Gastroesophage... |
ORPHA:198 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arche... |
OMIM:618804 |
Jansen-De Vries Syndrome |
|
Broad-based gait, Hyperlordosis, Small hand, Short foot, Gastroesophageal reflux, Brachydactyly |
OMIM:617450 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Dystonia, Failure to thrive |
OMIM:618237 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sign, Cerebral atrophy,... |
ORPHA:314404 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Brachydactyly, Joint stiffness, Elbow dislocation, Microcephaly, Coxa vara,... |
ORPHA:1824 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Platyspon... |
OMIM:617425 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Epicanthus, Megalencephaly, Hydrocephalus, Polydactyly, Cavum septum pe... |
OMIM:602501 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Small for gestational age, Short stature, Microcephaly, Partial agenesis of the corpus callosum, ... |
OMIM:618346 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula,... |
ORPHA:1834 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Gait disturbance, Hyperlordosis |
OMIM:618129 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... |
OMIM:620351 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Hypertonia, High palate, Clinoda... |
ORPHA:251028 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Partial agenesis of the corpus callosum, Hyperintensity of cerebral white matter on MRI... |
ORPHA:500144 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Epicanthus, Ataxia, Head titubation, Truncal ataxia, Dysmetria, Agenesis of corpus callosum, Abno... |
OMIM:250620 |
Hall-Riggs Syndrome |
|
Epicanthus, Microcephaly, Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosi... |
ORPHA:2107 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Microcephaly, Kyphosis, Cerebral atrophy, Hand polydactyly, Scoliosis, Ra... |
OMIM:300337 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Short neck, Hydrocephalus, Limitation ... |
OMIM:224400 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Lower limb spasticity, Absent septum pellucidum, Short neck, Microcephaly, Large... |
OMIM:300868 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... |
OMIM:619598 |
Fg Syndrome Type 1 |
|
Generalized joint laxity, High palate, Gastroesophageal reflux, Finger syndactyly, Malrotation of... |
ORPHA:93932 |
Schaaf-Yang Syndrome |
|
Thick eyebrow, Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Inabil... |
OMIM:615547 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger... |
OMIM:612394 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Failure to thrive, Microcephaly, Hyperlordosis, High palate, Hypopituitarism, Disti... |
OMIM:600462 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Coxa valga, Anter... |
OMIM:230000 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Microcephaly, Hydrocephalus, Scoliosis, Anal atresia, Radial dysplasia |
OMIM:617244 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Hooded eyelid, High palate, Gastroesopha... |
ORPHA:96170 |
Marden-Walker Syndrome |
|
Epicanthus, Arachnodactyly, Short neck, Microcephaly, Kyphosis, Wide anterior fontanel, High, nar... |
OMIM:248700 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the corpus callosum, Decreased... |
ORPHA:255138 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac... |
OMIM:619636 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, High... |
OMIM:619951 |
Odontochondrodysplasia |
|
Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, Platyspondyl... |
ORPHA:166272 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Vertebral segmen... |
ORPHA:261318 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Metaphyseal widening, High palate, Gastroesophageal reflux, Shallow ... |
OMIM:182212 |
Trisomy 17P |
|
Prominent metopic ridge, Short neck, Microcephaly, Tapered finger, Hydrocephalus, Flexion contrac... |
ORPHA:261290 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Epicanthus, Sandal gap, Craniosynostosis, Short neck, Microc... |
ORPHA:254346 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Communicating hydrocephalus, High, narrow palate, Abnormal form of the vertebral bodi... |
ORPHA:2462 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Bethlem Myopathy |
|
Waddling gait, Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contractu... |
ORPHA:610 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Almond-shaped palpebral fissure, Colpocephaly, Secondary mi... |
OMIM:620352 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Ptosis, Epicanthus, Spina bifida... |
ORPHA:3219 |
Cofs Syndrome |
|
Prominent metopic ridge, Cerebral calcification, Camptodactyly of finger, Short neck, Joint stiff... |
ORPHA:1466 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Microcephaly, Flexion contracture, Opisthotonus, Lateral ventricle dilatati... |
OMIM:614098 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Kyphosis, Limitation of joint mobility, Cerebral atrop... |
ORPHA:79327 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation ... |
ORPHA:177907 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morpholog... |
ORPHA:90653 |
Sialidosis Type 2 |
|
Ataxia, Tremor, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Microcephaly, Joint stiffness, Kyphosis, Choreoat... |
ORPHA:702 |
Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Arachnodactyly, Limited wrist extension, Blepharophimosis, Kyphosis, Absent phalangea... |
OMIM:108145 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Synophrys, Tremor, Promin... |
OMIM:300966 |
Thanatophoric Dysplasia, Type Ii |
|
Ventriculomegaly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short gr... |
OMIM:187601 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... |
ORPHA:289157 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Low-set, posteriorly rotated ears, Palpebral edema, Highly arched eyebrow, Microcephaly, Growth d... |
ORPHA:466688 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Coxa valga, Hydrocephalus, Hip dislocation, Abnormality of the vertebral column, Age... |
OMIM:109120 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Narrow palate, Arthrit... |
ORPHA:61 |
Mohr Syndrome |
|
Porencephalic cyst, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Sy... |
OMIM:252100 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Knee contracture, Cleft palate, Hi... |
OMIM:620249 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Hyperlordosis, Long fingers, High palate, Bifid uvula |
ORPHA:169186 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck, Slender long bone, Sh... |
OMIM:612921 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses, Platys... |
OMIM:612813 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis, Joint stiffness |
ORPHA:1548 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebr... |
OMIM:615095 |
Hsd10 Disease |
|
Short attention span, Microcephaly, Frontotemporal cerebral atrophy, Abnormal social behavior, Fo... |
ORPHA:391417 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Abnormality of the distal phalanx of the thumb, Synophrys, Unsteady gait, Slurred speech, Truncal... |
ORPHA:453521 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Dislo... |
OMIM:245600 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... |
ORPHA:1452 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Epicanthus, Camptodactyly of finger, Craniosynostosis... |
ORPHA:3210 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Brachydactyly, Aplastic clav... |
OMIM:265800 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Ogden Syndrome |
|
Ventriculomegaly, Torticollis, Broad hallux, Delayed cranial suture closure, High, narrow palate,... |
ORPHA:276432 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age, Microcephaly |
OMIM:619278 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Prominent metopic ridge, Dysgenesis of the basal ganglia, Babinski sign, High palate, Lissencepha... |
OMIM:620316 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Nasolacrimal duct obstruction, Abnormal form of the vertebral bodies, ... |
ORPHA:3218 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Flexion contracture, Hyperextensibility at wrists, Increased laxity of ankles, High palate, Agene... |
ORPHA:481152 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Hydrocephalus, Flexion contr... |
ORPHA:3042 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Epicanthus, Ovoid vertebral bodies, Short hallux, Short ... |
ORPHA:1517 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal widening of metacarpals... |
OMIM:602535 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, High pa... |
ORPHA:2180 |
Desmosterolosis |
|
Hypertonia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Increased bone mineral density,... |
ORPHA:35107 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Short neck, Subcortical cerebral atrophy, Pachygyria, Prominent metopic ridge, Highly arched eyeb... |
ORPHA:2995 |
3C Syndrome |
|
Finger syndactyly, Ventriculomegaly, Intestinal malrotation, Short neck, Kyphosis, Hydrocephalus,... |
ORPHA:7 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Vertebral clefting, Increased susceptibility to fractures, ... |
OMIM:241500 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Hydrocephalus, Spastic tetrapleg... |
OMIM:618174 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Spasticity, Long eyelashes, High palate, Wormian bones, Anterior hypopit... |
ORPHA:2863 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Epicanthus, Small for gestational age, Hydrocephalus, Neonatal e... |
OMIM:101800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Hypoplastic ischia, Short neck, Microcephaly, Bowing of the legs... |
ORPHA:1865 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Short neck, Abnormal thumb morphology, Abnormality of t... |
ORPHA:1842 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... |
ORPHA:53271 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, J... |
ORPHA:85194 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Epicanthus, Abnormal intervertebral disk morphology, Hydrocephalus, Abnormality of the elbow, Apl... |
ORPHA:2701 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodie... |
OMIM:242900 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, High p... |
ORPHA:536467 |
Triploidy |
|
Finger syndactyly, Intestinal malrotation, Short neck, Hydrocephalus, Meningocele, Cleft palate, ... |
ORPHA:3376 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Synophrys, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... |
ORPHA:666 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... |
OMIM:618484 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Joint swelling, Abnormal tibial ... |
ORPHA:668 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Tapered finger, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical ver... |
OMIM:617159 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss... |
OMIM:269250 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Hyperlordosis, Kyphosis, Ankyloblepharo... |
ORPHA:568 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Hypoplasia of the corpus callosum, Attention defi... |
ORPHA:444002 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Short neck, Microcephaly, Syn... |
ORPHA:2332 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyl... |
OMIM:263520 |
Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Hypertonia, High palate, Progressive spasticity, Short met... |
ORPHA:192 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Gait disturbance, Microcephaly |
ORPHA:26 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormality of the gastrointestinal tract, Recurrent fractures, Osteomalacia, Camptod... |
ORPHA:2176 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Cerebral white matter atrophy, High palate, Postaxial fo... |
ORPHA:521426 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis,... |
OMIM:300280 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Joint hypermobility, Tapered finger, Chorea, Premature anterior fontanel closure, Hip dis... |
OMIM:619435 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... |
OMIM:187600 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Decreased r... |
ORPHA:1855 |
Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Microcephaly, Kyphosis, Abn... |
ORPHA:3121 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Scoliosis, Difficulty walking |
ORPHA:86812 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Pyloric sten... |
OMIM:613848 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Megalencephaly, Kyphosis, Hydrocephalus, Wide anterior fontanel, Femoral bo... |
OMIM:616482 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... |
OMIM:151210 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363958 |
Myopathy, Scapulohumeroperoneal |
|
Achilles tendon contracture, Scoliosis, Hyperlordosis |
OMIM:616852 |
Lethal Osteosclerotic Bone Dysplasia |
|
Microcephaly, Short neck, Large fontanelles, Delayed cranial suture closure, Median cleft lip and... |
ORPHA:1832 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Seckel Syndrome |
|
Sandal gap, Craniosynostosis, Microcephaly, Cachexia, Cone-shaped epiphysis, Joint hyperflexibili... |
ORPHA:808 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Anteriorly placed anus, Cutaneous syndactyly of toes, Cutane... |
OMIM:615546 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Abnormal pyramidal sign, Hypertonia, High palate, Contractures of the large joints, Abnormal cort... |
OMIM:617527 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Epicanthus, Ataxia, Microcephaly, Tapered finger, Kyphosis, Joint hyperflexibility, H... |
ORPHA:2479 |
Diencephalic Syndrome |
|
Hydrocephalus, Macrotia, Cachexia, Decreased body weight |
ORPHA:1672 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Frequent falls, Flexion contracture, Hyperlordosis |
OMIM:611588 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Cerebral white matter atrophy, Microcephaly, Hyperlordosis, Chorea, Difficulty wal... |
ORPHA:369840 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dys... |
ORPHA:2524 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, H... |
OMIM:254090 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... |
ORPHA:235 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Incre... |
OMIM:613385 |
Rett Syndrome |
|
Cachexia, Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, Secondary microcephaly... |
OMIM:312750 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Hydrocephalus |
ORPHA:1008 |
Osteopathia Striata With Cranial Sclerosis |
|
Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, Osteopathia striata, High p... |
OMIM:300373 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Telecanthus, Impaired pain sensation |
ORPHA:1532 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Abnormal substantia nigra morphology, Oculogyric crisis, Involuntar... |
ORPHA:97349 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss |
ORPHA:141152 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Ptosis, Abnormal sacrum morphology, Hydrocephalus, Abnormal form of the vertebral bodies, Abnorma... |
ORPHA:93262 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contrac... |
OMIM:310200 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Microcephaly, High, narrow palate, Hydrocephalus, Pyloric stenosis,... |
ORPHA:2409 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Short neck, Hydrocephalus, Clinodactyly |
ORPHA:251046 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Pachygyria, Dysplastic corpus callosum, Atresia of the external auditor... |
ORPHA:2328 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphys... |
OMIM:108300 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Small for gestational age, Craniosynostosis, Blepharophimosis, Long fingers, Upslante... |
OMIM:613174 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Weight loss, Abnormal cerebral white matter morphology, Slender build, Hearing impairment |
OMIM:613662 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Synophrys, Vertebral segmentation defect, Short palm, Clin... |
ORPHA:251014 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Microcephaly, Hydrocephalus, Synophrys, Narrow palpebral fissure, Peri... |
OMIM:618302 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Narrow palate, Multiple suture craniosynostosis, Conju... |
ORPHA:207 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Posteriorly rotated ears, Partial agenesis of the corpus callosum, Protruding ear, Upper eyelid e... |
OMIM:616819 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Epicanthus, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal locati... |
ORPHA:522077 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperlordosis, Spinal rigidity, Pyloric stenosis, Flexion contracture, Osteoporosis, ... |
OMIM:613327 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Short nec... |
OMIM:613686 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Short neck, Microcephaly, Elbow flexion contracture, S... |
ORPHA:371364 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Low-set ears, Weight loss |
OMIM:620045 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... |
OMIM:253220 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Pachygyria, Agen... |
OMIM:607872 |
Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Decreased body mass index, Clumsiness... |
ORPHA:399 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Microcephaly, Abnormal thumb morphology... |
ORPHA:1597 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord... |
OMIM:162300 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ... |
OMIM:616507 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Cachexia, Upslanted palpebral fissure, Abnormal pelvic girdle bone mor... |
ORPHA:1133 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Microcephaly, Kyphosis, High palate, Scoliosis, Distichiasis |
ORPHA:2598 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, ... |
ORPHA:88644 |
Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Ataxia, Kyphosis, Horner syndrome, Blepharophimosis |
OMIM:141300 |
Potocki-Shaffer Syndrome |
|
Epicanthus, 2-5 finger cutaneous syndactyly, Brachydactyly, Telecanthus, Wormian bones, Downslant... |
OMIM:601224 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, High, narrow palate,... |
OMIM:617926 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Type II lissencephaly, Hydrocephalus, Flexion contracture, Aplasia/Hypop... |
ORPHA:272 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Truncal at... |
OMIM:220200 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Telecanthus, Short neck, Kyphosis, Hydrocephalus, Meningocele, Cleft palate, Sc... |
OMIM:130720 |
6Q Terminal Deletion Syndrome |
|
Joint laxity, Hallux valgus, Prominent metopic ridge, Highly arched eyebrow, Short neck, Abnormal... |
ORPHA:75857 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Prominent metopic ridge, Ataxia, Synophrys, Noncommunicating hydrocephalus, Clumsiness, Short foo... |
OMIM:619320 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Hydrocephalus, Aplasia/Hypop... |
ORPHA:2318 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Decreased skull ossification, Partial absence of toe, Short to... |
ORPHA:955 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Kyphoscoliosis, ... |
OMIM:614815 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Posteriorly rotated ears, Short stature, Postnatal growth retardat... |
OMIM:620113 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Ptosis, Epicanthus, Telecanthus, Craniosynostosis, Microcephaly, Kyphosis, Upslanted palpebral fi... |
OMIM:618050 |
Distal Triplication 15Q |
|
Telecanthus, Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosis, Hydrocephalus... |
ORPHA:314588 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffne... |
OMIM:253200 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Microcephaly, Overweight, Synophrys, Lumbar scol... |
OMIM:617796 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, C... |
ORPHA:3035 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Sandal gap, Mi... |
ORPHA:261330 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Babinski sign, Osteoporosis,... |
OMIM:309400 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture |
ORPHA:85193 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Joint stiffness, Hypoplasia of... |
OMIM:607014 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cachexia, Synophrys, Protruding ear, Macrotia, ... |
ORPHA:2471 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Sagittal craniosynostosis, Sparse eyebrow, Hydrocephalus, Small hand, Cleft palate, A... |
ORPHA:459061 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Prominent metopic ridge, Tapered finger, Sparse eyebrow, Gait disturbance, Scoliosis... |
ORPHA:261349 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Short stature, Cachexia, Microcephaly |
ORPHA:2574 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Microcephaly, Taper... |
OMIM:619721 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Hip dislocation, Large fontanelles, Athetosis, ... |
OMIM:219150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Kyphoscoliosis, S... |
OMIM:309583 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Eso... |
ORPHA:87 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, High palate, Short palm, Short phalanx of f... |
OMIM:249420 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... |
ORPHA:2347 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Small hand, Short foot, Cortica... |
ORPHA:93324 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Epicanthus, Telecanthus, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Microce... |
OMIM:612337 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness |
ORPHA:1345 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ... |
OMIM:618150 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Patellar aplasia, Antecu... |
OMIM:161200 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Lateral ventricle dilatation, ... |
OMIM:619479 |
Iniencephaly |
|
Encephalocele, Anal atresia, Rocker bottom foot, Spina bifida, Hyperlordosis, Hydrocephalus, Abse... |
ORPHA:63259 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Cousin Syndrome |
|
Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ... |
OMIM:260660 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Abnormal form of the vertebr... |
ORPHA:2769 |
Koolen-De Vries Syndrome |
|
High palate, Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge, Scoliosis, Ptos... |
OMIM:610443 |
Oculodentodigital Dysplasia |
|
Cerebral calcification, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Fi... |
ORPHA:2710 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Hip dysplasi... |
OMIM:619698 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cerebral white matter atrophy, Multiple joint contractures, Short neck, Abnormal globus pallidus ... |
ORPHA:99646 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Narrow palate, Sc... |
OMIM:277600 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Pachygyria, Postnatal growth reta... |
OMIM:243310 |
Sjögren-Larsson Syndrome |
|
Microcephaly, Joint stiffness, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Sp... |
ORPHA:816 |
Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Scoliosis, Bifid uvula, Thick eyebrow |
OMIM:617768 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation, Downslanted palpebral fissures |
OMIM:301025 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Sh... |
OMIM:609053 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Loss of ambulation, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:253700 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Lateral ventricle dilatation,... |
OMIM:612301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia, Kyphoscoliosis |
OMIM:300886 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gastrointestinal dysmotility, Impaired vibra... |
ORPHA:88628 |
Bresek Syndrome |
|
Aganglionic megacolon, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Hemivertebrae, Cl... |
ORPHA:85284 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Overlapping fingers, Small for gestational age, Rocker bottom foot, Craniosynostosis... |
OMIM:301056 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Arachnodactyly, Microcephaly, Kyphosis, High, narrow palate, Pylori... |
ORPHA:96169 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Microcephaly, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, Cerebral a... |
OMIM:616449 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Short stature, Cachexia |
ORPHA:1144 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cerebral calcification, Short stature, Cachexia, Microcephaly, Sensorineural hearing impairment, ... |
ORPHA:1933 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Epicanthus, Prominent metopic ridge, Palpebral edema, Microcephaly, Kyphosis, Macroglossia, Agene... |
ORPHA:261144 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, Short palpebral fissure, Short stature, Microc... |
OMIM:617260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Microcephaly, Hydrocephalus, Flexion contracture, Lissencephaly, Scoliosis... |
OMIM:615249 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Kyphoscoliosis, Microcephaly, Long fingers, Osteoporosis, Hip dislocatio... |
ORPHA:447980 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Increased susceptibility to fractu... |
ORPHA:561 |
Aymé-Gripp Syndrome |
|
Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered finger, Scoliosi... |
ORPHA:1272 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Cervical kyphosis, Craniosynostosis, Kyphoscoliosis, Tapered finger,... |
ORPHA:2953 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hamartomat... |
OMIM:109400 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, High pala... |
OMIM:265000 |
Facioscapulohumeral Dystrophy |
|
Abnormal eyelash morphology, Palpebral edema, Hyperlordosis |
ORPHA:269 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide anterior fo... |
OMIM:601853 |
De Barsy Syndrome |
|
Osteopenia, Epicanthus, Congenital hip dislocation, Delayed closure of the anterior fontanelle, K... |
ORPHA:2962 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Hydrocephalus, High palate, Camptodactyly, Downslanted palpebral ... |
OMIM:614846 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Sacral dimple, Overlapping toe, Epicanthus, Postaxial polydactyly, Taper... |
OMIM:613792 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, 2-3 fin... |
ORPHA:2437 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Sparse eyelashes, Kyphoscoliosis, Short neck, Postaxial polydactyly, Sparse eye... |
OMIM:302960 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Joint ... |
ORPHA:250989 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Lumbar hyperlordosis, Microcephaly, Sparse eyebrow, Kyph... |
ORPHA:2232 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Microcephaly, Epiblepha... |
OMIM:618367 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Joint stiffness, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydroceph... |
ORPHA:2182 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Gastroesophageal reflux, Prominent fingertip pads, Ataxia, Cleft... |
OMIM:619950 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Epicanthus, Telecanthus, Rocker bottom foot, Short neck, Hydrocephalus, ... |
OMIM:612582 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus mo... |
ORPHA:293725 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati... |
ORPHA:101005 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Oculoskeletodental Syndrome |
|
Epicanthus, Small for gestational age, Elbow flexion contracture, Lacunar stroke, Macroglossia, T... |
OMIM:618440 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... |
ORPHA:2198 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:604273 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Synophrys, Obesity, Narrow palate,... |
OMIM:616078 |
Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Highly arched eyebrow, Tapered finger, Short toe, Hydrocephalus, Cleft pal... |
OMIM:239300 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Delayed closure of the anterior fontanelle, Microcephaly, Postaxial polydactyly, H... |
OMIM:618460 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hypertonia,... |
ORPHA:1545 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Cortical dysplasia, Abnormal pyramidal sign, ... |
ORPHA:468631 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Hypertonia, High palate, Gastroe... |
OMIM:115150 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
15Q Overgrowth Syndrome |
|
Telecanthus, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly,... |
ORPHA:314585 |
White-Kernohan Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Dysplastic corpus callosum, Synophrys, Broad medial eyebr... |
OMIM:619426 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Small for gestation... |
ORPHA:1830 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature |
OMIM:619423 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... |
OMIM:601438 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Hydrocephalus, Cranial hyperostosis... |
OMIM:259710 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, High palate, Bifid uvula, Sparse eyebrow, Abnormal cerebral w... |
OMIM:617140 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Hydrocephalus, Hemivertebrae, ... |
OMIM:220210 |
Halperin-Birk Syndrome |
|
Inability to walk, Flexion contracture, Hip dislocation, Spastic tetraplegia, Colpocephaly, Pseud... |
OMIM:618651 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... |
OMIM:203450 |
Holoprosencephaly 11 |
|
Synophrys, Agenesis of corpus callosum, Thick eyebrow, Microcephaly |
OMIM:614226 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Partial agenesis of the corpus callosu... |
ORPHA:420794 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Microcephaly, Sensorineural hearing impair... |
OMIM:615219 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small... |
ORPHA:2388 |
Osteogenesis Imperfecta, Type Xv |
|
Schizencephaly, Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Sc... |
OMIM:615220 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Bilateral ptosis,... |
ORPHA:404440 |
Congenital Disorder Of Glycosylation, Type Id |
|
Epicanthus, Villous atrophy, Failure to thrive, Spastic tetraparesis, Microcephaly, Long fingers,... |
OMIM:601110 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Sacral dimple, Bowing of the long bones, Recurrent fra... |
ORPHA:3206 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Microcephaly, Almond-shaped palpebral fissure, Dysplastic corpus callosum, Partial agenesis of th... |
OMIM:619103 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Inability to walk, Flexion contracture, Babinski sign, Sp... |
OMIM:609541 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Long fingers, Hydrocephalus, Synophrys, Ulnar deviation of finger, Hypertonia, F... |
ORPHA:1895 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Sparse eyelashes, Limited elbow movement, Joint stiffness, Delayed closure ... |
OMIM:614008 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, High palate, Shallow orbits, Short palm, Short phalanx ... |
OMIM:166250 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Joint laxity, Microcephaly, Hip dislocation, Wormian bones, Delayed c... |
OMIM:616603 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microcephaly, Inability to walk, Hydrocephalus, Flexion contracture, Macroglossia, Hypoplasia of ... |
OMIM:613155 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due ... |
OMIM:259410 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Broad eyebrow, Lumbar hyperlordosis, Epicanthus, Spastic tetraparesis, Microcephaly, ... |
OMIM:616975 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
Desmosterolosis |
|
Epicanthus, Failure to thrive, Microcephaly, Generalized osteosclerosis, Hydrocephalus, Partial a... |
OMIM:602398 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Dystonia, Microcephaly, Simplified gyral pattern, Extra-axial cerebrospi... |
OMIM:617669 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Epicanthus, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiverteb... |
ORPHA:2916 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Shallow orbits, Hepatob... |
OMIM:269150 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus... |
ORPHA:163966 |
Kabuki Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Highly arched eyebrow, Obesity... |
ORPHA:2322 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis |
OMIM:300861 |
Genitopalatocardiac Syndrome |
|
Microcephaly, Kyphosis, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Scoliosis, Downs... |
ORPHA:2075 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:95717 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Thick eyebrow, Cerebral calcification, Microcephaly, Dysplastic corpus... |
OMIM:617281 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Hydrocephalus, Postaxial ... |
OMIM:220220 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Faciocardiomelic Syndrome |
|
Osteopenia, Telecanthus, Microcephaly, Large for gestational age, Cuboid-shaped vertebral bodies,... |
OMIM:612731 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Arachnodactyly, Craniosyn... |
OMIM:616914 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv... |
OMIM:610333 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ptosis, Epicanthus, Pain insensitivity, Sandal gap, Tapered finger, Microcephaly, Kyphosis, Synop... |
OMIM:617061 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, Microcephaly, Hypoplastic ischi... |
OMIM:210730 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Joint stiffness, Malabsorption, Hemiplegia/hemiparesis, Hydrocephalus, Split h... |
ORPHA:579 |
Hurler Syndrome |
|
Cerebral palsy, Camptodactyly of finger, Short neck, Hydrocephalus, Limitation of joint mobility,... |
ORPHA:93473 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Limb joint contracture, Cachexia, Microcephaly, Flexion contracture, Babinski sign, 2... |
OMIM:618186 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Epicanthus, Jejunal atresia, Absent septum pellucidum, Kyphoscoliosis, Joint stiffnes... |
OMIM:618820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Elbow flexion contracture, Abnormal cerebral white matter morphology |
OMIM:618138 |
Noonan Syndrome 13 |
|
Joint laxity, Prominent metopic ridge, Epicanthus, Overlapping toe, Highly arched eyebrow, Short ... |
OMIM:619087 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving... |
ORPHA:3301 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Microcephaly, Hydrocephalus, Cleft palate, Pterygium, Hydranencephaly... |
OMIM:225790 |
Marden-Walker Syndrome |
|
Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bifid uvula, Arachnodactyly, ... |
ORPHA:2461 |
Fanconi Anemia, Complementation Group B |
|
Short neck, Absent thumb, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Bilateral... |
OMIM:300514 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Malabsorption, Flexion contracture, Syno... |
ORPHA:77297 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Partial agenesis of the corpus callosum, Abnormal cartilage matri... |
ORPHA:86822 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Monosomy 18Q |
|
Epicanthus, Arachnodactyly, Joint hypermobility, Kyphoscoliosis, Microcephaly, Tapered finger, Sl... |
ORPHA:1600 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Overlapping toe, Limb joint contracture, Tapered finger, Microcephaly, Synophrys, Spastic tetrapl... |
OMIM:300004 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Clumsiness, Poor fine motor coordination, Fused cervical vertebrae, Abnormal cort... |
ORPHA:238722 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Communicating hydrocephalus, Short neck, Cortical thickening of long bone diaphyses, ... |
ORPHA:309282 |
Mend Syndrome |
|
Sacral dimple, Telecanthus, Broad hallux, Overlapping toe, Kyphosis, Hydrocephalus, Wide anterior... |
ORPHA:401973 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Hypoplastic vertebral bodies, ... |
OMIM:272200 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Small for gestational age, Decreased response to growth hormone stimulation test,... |
OMIM:609757 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Microcephaly, Aqueductal stenos... |
ORPHA:2065 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, T2 hypointense basal ganglia, Diffuse whi... |
ORPHA:79255 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Highly arched eyebrow, Kyphosis, Upslanted palpebral fissure, Colpoc... |
ORPHA:261250 |
Harrod Syndrome |
|
Arachnodactyly, Microcephaly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abn... |
ORPHA:2115 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysphagia, Dysmetria, Gait ataxia,... |
OMIM:618093 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Joint dislocation, Pallidal degeneration, Limb dystonia, Dystonia, A... |
ORPHA:25 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Aqueductal stenosis, Synophrys, Partial agenesis of the corpus callos... |
OMIM:619512 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Epicanthus, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of t... |
ORPHA:476126 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Spastic... |
OMIM:615191 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Tapered finger, Short neck, Synophrys, Partial agenesis of the corpus ca... |
OMIM:620250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ataxia, Large for gestational age, Babinski sign, Osteoporosi... |
OMIM:615398 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Upslanted palpebral fissure, Low-set ears, Hypoplasia of the corpus callosum, Overfolded helix, F... |
OMIM:613735 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Microcephaly, Hydrocephalus, Postaxial hand polydactyly,... |
OMIM:241800 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Joint hypermobility, Postaxial polydactyly, Upper eyelid e... |
ORPHA:457284 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... |
ORPHA:1553 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
Monosomy 9Q22.3 |
|
Epicanthus, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Joint hyperflexibilit... |
ORPHA:77301 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Hyperlordosis, Tapered finger, Synophrys, Hip dislocation, Obesity, Cleft palate, Gen... |
OMIM:301066 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Lumbar hyperlordosis, Bilateral ptosis, Scoliosis, Loss of ambulation, Frequent falls |
ORPHA:254854 |
Microhydranencephaly |
|
Short stature, Microcephaly, Macrotia, Growth delay, Hydranencephaly, Pachygyria, Agenesis of cor... |
OMIM:605013 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Protruding tongue, Hydrocephalus, Cleft palate, Drumstick terminal phalanges, Hyperto... |
OMIM:612938 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,... |
OMIM:119600 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i... |
ORPHA:90646 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Broad thumb, Brachydactyly |
ORPHA:171866 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Acromi... |
OMIM:176270 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Abnormal eyelid morphology, Subcortical cerebral atrophy, Hypertonia, Age... |
ORPHA:2396 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... |
OMIM:271665 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Microcephaly, Hydrocephalus, Clumsiness, Upslanted palpebral fissure, High palate, Prominent fing... |
OMIM:300558 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Epicanthus, Small for gestational age, Short palpebral f... |
ORPHA:171929 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pain insensitivity, Genu recurvatum, Kyphosis, Babinski sign, Narrow palate, Myoclo... |
ORPHA:364028 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Polymicrogyria |
ORPHA:83473 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Highly arched eyebrow, Hyperlordosis, Synophrys, Bilateral cle... |
ORPHA:3253 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Epicanthus, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, High palate, Sc... |
OMIM:104350 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Hyd... |
OMIM:314390 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Spinal rigidity, Hyperlordosis, Inability to walk, Chorea, Limited knee f... |
ORPHA:268 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Bone cyst, Abnorm... |
ORPHA:363700 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density, High palate,... |
ORPHA:84 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Prominent metopic ridge, Epicanthus, Thick eyebrow, Decreased response to growth hormo... |
ORPHA:488632 |
Tarp Syndrome |
|
Finger syndactyly, Thick eyebrow, Failure to thrive, Broad-based gait, Rocker bottom foot, Postax... |
ORPHA:2886 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... |
OMIM:608328 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Os... |
OMIM:259770 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Hyperlordosis, Inability to walk, Wide anterior fontanel, Dysphagia |
ORPHA:26791 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Hydrocephalus, Conjunctivitis, High palate, Lambdoidal craniosynostosi... |
OMIM:123500 |
Wolf-Hirschhorn Syndrome |
|
Periventricular cysts, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Cavum sept... |
OMIM:194190 |
Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Short long bone, M... |
OMIM:614524 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary ... |
OMIM:615599 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Failure to thrive, Recurrent fractures, Hyperextensibility of the knee, Osteoporos... |
OMIM:601812 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Joint stiffness, Microcephaly, Kyphosis, Abnormality of the elb... |
ORPHA:1005 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Hydrocephalus, Esophageal stricture, Paraplegia, Gastroesop... |
OMIM:617053 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Short palpebral fissure, Postnatal growth retardation, Hypoplasia of the... |
ORPHA:251061 |
9P13 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Joint stiffness, Abnormality of cartilage of external ear, Han... |
ORPHA:324313 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Elbow dislocation, Metatarsus addu... |
ORPHA:2249 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Rickets, Steatorrhea |
OMIM:607748 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th... |
OMIM:614924 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive |
OMIM:613217 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Congenital hip dislocation, Increased body weight, M... |
OMIM:614450 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the... |
OMIM:615630 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Holoprosencephaly |
|
Short neck, Synophrys, Chorea, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Ho... |
ORPHA:2162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Spinal ri... |
OMIM:253800 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,... |
ORPHA:392 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long... |
OMIM:250220 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Falls, Difficulty walking |
ORPHA:3198 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Knee flexion contracture, High palate, Wrist flexion contracture, Arachno... |
OMIM:121050 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Microcephaly, High, narrow palate, A... |
ORPHA:1439 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Epicanthus, Hypoplastic iliac wing, Pachygyria, Rectal prolapse, Spina bifida occulta... |
OMIM:235510 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Epicanthus, Palpebral edema, Small for gestational age, Meta... |
OMIM:614866 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dystonia, Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Inflammation of... |
OMIM:619708 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Femoral bowing, Coronal cleft v... |
OMIM:620076 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Ventriculomegaly, Epicanthus, Cerebral dysmyelination, Corpus callosum atrophy, Corti... |
OMIM:261515 |
Erythrokeratodermia Variabilis |
|
Short stature, Microcephaly, Weight loss, Protruding ear, Hearing impairment |
ORPHA:317 |
Cohen Syndrome |
|
Abnormal eyelid morphology, High, narrow palate, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:193 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Distal sensory impairment, Steppage gait, Positive Romberg sign, Scoliosis,... |
OMIM:601152 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Small for gestational age, Generalized dystonia, Femoral retroversion, Kyph... |
OMIM:607371 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, Absent eyelashe... |
ORPHA:85199 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Microcephaly, Hyperintensity of cerebral white matter on MRI, Reduced bone minera... |
OMIM:619322 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Crumpled long bones, Recurrent fractures, Protrusio acetabuli, ... |
OMIM:610682 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap... |
ORPHA:85166 |
Papillary Tumor Of The Pineal Region |
|
Abnormal eyelid morphology, Hydrocephalus, Difficulty walking, Episodic ataxia, Increased CSF pro... |
ORPHA:251915 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... |
OMIM:259100 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, High palate, Gastroesophageal reflux, Shallow orbits, Clinodactyly... |
OMIM:616580 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Elevated circulating growth hormone concentration, Fibrous dys... |
ORPHA:562 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Wide anterior fontanel, Large for gestational age |
OMIM:618272 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Sclerosis of ... |
ORPHA:2905 |
Tetrasomy 5P |
|
Pericallosal lipoma, Epicanthus, Overlapping toe, Short hallux, Short neck, Wide anterior fontane... |
ORPHA:3309 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... |
ORPHA:2062 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Aqueductal stenosis, Absent lower eyelas... |
OMIM:154400 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum, Bilateral sensorineural hearing impairment |
OMIM:619083 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Neurofibrillary tangles, Dementia, Semantic dementia, Memory impairment, Abnormal soci... |
ORPHA:1020 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Impaired temperature sensat... |
ORPHA:536532 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Duodenal ulcer, Long finge... |
OMIM:605822 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Postaxial hand pol... |
ORPHA:1454 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impaired temperature sensation, Almond-shaped palpebral fissure, Kyphosis, Flexion co... |
ORPHA:398069 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cleft hard palate, Flexion contracture, Calcaneovalgus deformity, Large basal ganglia, Agenesis o... |
ORPHA:261537 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Dilated fourth ventricle, Villous atrophy, Ataxia, Microcephaly, Almond-shaped palpeb... |
OMIM:212065 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Osteoporosis, Rickets, Myoclonus, Failure to thrive, Ptosis |
OMIM:560000 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Paraplegia, Weight loss, High palate, Difficulty ... |
ORPHA:98897 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu... |
ORPHA:298 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Greenberg Dysplasia |
|
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplast... |
OMIM:215140 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
White-Sutton Syndrome |
|
Joint laxity, Waddling gait, Microcephaly, Short neck, Obesity, Cleft palate, Cerebral atrophy, U... |
OMIM:616364 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary microcephaly, ... |
ORPHA:397951 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Small for gestational age, Microcephaly, Sparse eyebrow, Na... |
OMIM:619869 |
Renpenning Syndrome |
|
Epicanthus, Severe short stature, Cachexia, Microcephaly, Sensorineural hearing impairment, Upsla... |
ORPHA:3242 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Ataxia, Hydrocephalus, Synophrys, Spastic paraplegia, Cerebral atrophy, Opisthotonus,... |
OMIM:614969 |
Hennekam-Beemer Syndrome |
|
Ventriculomegaly, Camptodactyly of finger, Microcephaly, Upslanted palpebral fissure, High palate... |
ORPHA:2135 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ptosis, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges... |
ORPHA:1647 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Esoph... |
OMIM:614576 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Gastrointestinal dysmotility, Vertebral segmentation defect, High palate, Gastroesoph... |
ORPHA:453499 |
Lowe Oculocerebrorenal Syndrome |
|
Ventriculomegaly, Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kypho... |
OMIM:309000 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Microcephaly, Patellar aplasia, Hip dislocation, Joint hyperflexibility... |
ORPHA:2058 |
Wrinkly Skin Syndrome |
|
Osteopenia, Epicanthus, Congenital hip dislocation, Thick cerebral cortex, Kyphoscoliosis, Delaye... |
ORPHA:2834 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Synophrys, Macroglossia, Long eyelashes, Thick eyebrow |
OMIM:616455 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Short femur, Recurrent fractures, ... |
OMIM:618188 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Clonus, Microcephaly, Hydrocephalus, Cranial hyperostosis, Flared... |
OMIM:259720 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis, Weight loss |
ORPHA:100024 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, R... |
ORPHA:581 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Cerebral calcification, Highly arched e... |
OMIM:259775 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, High, narr... |
OMIM:300967 |
Silver-Russell Syndrome |
|
Sandal gap, Failure to thrive in infancy, Cachexia, Obesity, Abnormal appendicular skeleton morph... |
ORPHA:813 |
Tetrasomy 12P |
|
Telecanthus, Cachexia, Short neck, Sparse eyebrow, Abnormal soft palate morphology, Upslanted pal... |
ORPHA:884 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Marshall Syndrome |
|
Epicanthus, Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Knee osteoarthritis, Irreg... |
OMIM:154780 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Absent septum pellucidum, Blepharophimosis, Abnormality of the ear, Grow... |
ORPHA:3339 |
Stickler Syndrome |
|
Joint dislocation, Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mineral de... |
ORPHA:828 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl... |
ORPHA:2020 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Flexion contracture, Gastroesophageal reflux, Agenesis of corpus callosum, Dan... |
OMIM:605039 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Lumbar hyperlordosis, Telecanthus, Cerebral calcification, Short neck, Joint stiffnes... |
ORPHA:505248 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Epicanthus, Failure to thrive in infancy, Abnormal mor... |
ORPHA:1340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Spinal rigidity, Microcephaly, Hydrocephalus, Cleft palate,... |
OMIM:613150 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly... |
OMIM:619269 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Epicanthus, Craniosynostosis, Limited wrist movement, K... |
ORPHA:576 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Small for gestational age, Microcephaly, Short neck, Hypodysplasia of the corpus call... |
OMIM:257300 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased CSF alanine concentration, Babinski sign, Increased CSF lactate, Bradykinesia, Protein-... |
OMIM:619063 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Simplified gyral pattern, Abnorm... |
OMIM:613153 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lumbar hyperlordosis |
OMIM:615980 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Turnpenny-Fry Syndrome |
|
Prominent interphalangeal joints, High palate, Gastroesophageal reflux, Cavum septum pellucidum, ... |
OMIM:618371 |
Opsismodysplasia |
|
Short metacarpal, Short neck, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Hydrocephalus, Hemivertebrae, Tracheoesophageal fistula, Agenesis of corpus c... |
ORPHA:77298 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hydrocephalus, Flared metaphysis, Slender long bone, Decreased skull ossificat... |
OMIM:602361 |
Rhombencephalosynapsis |
|
Finger syndactyly, Anal atresia, Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Esophageal... |
ORPHA:59315 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe sy... |
OMIM:264480 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Short neck, Kyphosis, Hydrocephalus, Flexion contracture, Split ha... |
OMIM:309900 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Failure to thrive in infancy, Microcephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Increased susceptibility to f... |
ORPHA:216866 |
Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Abnormal sacrum morphology, Cleft palate, Spinal dysraphism, Aplasia... |
ORPHA:1926 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Hydrocephalus, Long fingers, 2-3 toe synd... |
OMIM:300960 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cleft hard palate, Flexion contracture, Calcaneovalgus deformity, Large basal ganglia, Agenesis o... |
ORPHA:261552 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Upslanted palpebral fi... |
OMIM:617822 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Hemiplegia/hemiparesis, Anterior hypopituitarism, Ataxia |
ORPHA:480 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Hydrocephalus, Humeroradial synostosi... |
OMIM:207410 |
Schinzel-Giedion Syndrome |
|
Short neck, Vocal cord paralysis, Tibial bowing, Anteriorly placed anus, Hypertonia, High palate,... |
ORPHA:798 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, High palate, Patchy reduction of bone mineral density, Synostosis of carp... |
ORPHA:221120 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Tip-toe gait, High palate, Frequent falls |
ORPHA:171881 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Hyperlordosis, Pachygyria, Inability to walk, Flexion contracture, Macroglossi... |
ORPHA:258 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Intestinal malrotation, Microcephaly |
ORPHA:77300 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co... |
OMIM:309350 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Microcephaly, Short neck, Abnormal eyelash morphology, Hydroceph... |
OMIM:147791 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Fre... |
OMIM:184850 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Elbow contracture, Hydrocephalus, 2-3 toe syndactyly, Knee flexion ... |
OMIM:618162 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Hyperlordosis, Sparse or absent eyelashes, Abnormal hip bone morphology, Scoliosis, Aplasia/Hypop... |
ORPHA:3353 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, Short 3rd metacarpal, Failu... |
OMIM:169400 |
Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment |
ORPHA:33355 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Telecanthus, Aplastic... |
ORPHA:50945 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephalocel... |
OMIM:108720 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abn... |
ORPHA:85408 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Ataxia, Hydrocephalus, Reduced bone mineral density, Hypertonia, High palate, Abn... |
ORPHA:2720 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Large fontanelles, Protein-losing enteropathy, Camptodactyly, Failure to thrive |
OMIM:608104 |
Williams Syndrome |
|
Osteopenia, Tremor, Rectal prolapse, Abnormal form of the vertebral bodies, Dysmetria, Vertebral ... |
ORPHA:904 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Medulloblastoma |
|
Back pain, Ataxia, Hydrocephalus, Adenomatous colonic polyposis, Cerebellar ataxia associated wit... |
ORPHA:616 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Kyphosis, Macroglossia, Scolios... |
ORPHA:79107 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Obesity |
ORPHA:141333 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Microcephaly, Multiple prenatal fractures, Highly arched eyebrow, Narrow palate, ... |
OMIM:618644 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Epicanthus, Sparse eyelashes, Craniosynostosis, Postaxial polyda... |
OMIM:605627 |
Congenital Disorder Of Glycosylation, Type Il |
|
Microcephaly, Short neck, Kyphosis, Hip dislocation, Failure to thrive |
OMIM:608776 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Prominent metopic ridge, Epicanthus, Microcephaly, Synophrys, Upslanted palpebral fissure, Hypert... |
OMIM:619188 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,... |
ORPHA:264450 |
Trisomy 9P |
|
Sacral dimple, Microcephaly, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Dow... |
ORPHA:236 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Knee flexion contracture, Lower limb hy... |
ORPHA:3208 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Gapo Syndrome |
|
Epicanthus, Sparse eyelashes, Delayed cranial suture closure, Delayed closure of the anterior fon... |
OMIM:230740 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Blepharophimosis, Metatarsus adductus, Premature osteoarthritis, Large font... |
OMIM:611962 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Ventriculomegaly, Craniosynostosis, Short neck, Long fingers, Hydrocephalus, Unste... |
ORPHA:96121 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Tracheoesophageal fistula, Upslanted palp... |
ORPHA:1780 |
Wrinkly Skin Syndrome |
|
Osteopenia, Epicanthus, Congenital hip dislocation, Delayed cranial suture closure, Delayed closu... |
OMIM:278250 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Triphalangeal thu... |
OMIM:604757 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hyperlordosis, Inability to walk, Flexion contracture, Osteoporosis, Macroglossia, Scoliosis, Dys... |
ORPHA:365 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Ataxia, Kyphosis, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle clonus,... |
OMIM:211530 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Microcephaly, Chorea, Ileus, Joint hyperflexibility, Ath... |
ORPHA:52503 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Ataxia, Highly arched eyebrow, Postaxial polydactyly, Hydrocephalus, M... |
OMIM:614424 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93924 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Craniosynostosis, Hydrocephalus, Narrow palate, Anteriorly placed anus, Agenesis... |
OMIM:123790 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:261344 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Abno... |
ORPHA:280 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Short stature, Sensorineural hearing impairment, Cupped ear, Downslant... |
ORPHA:52055 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... |
OMIM:304150 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity... |
OMIM:245200 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Lower limb spasticity, Thoracic scoliosis, Abnormal odontoid process morphology, A... |
ORPHA:314621 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Microcephaly, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contract... |
OMIM:618493 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Epicanthus, Aganglionic megacolon, Tapered finger, Microcephaly, Megalencephaly, H... |
OMIM:613603 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Joint hyperflexibility, Hand polydactyly, Foot ... |
ORPHA:60040 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum, Short stature |
OMIM:182230 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Microcephaly, 2-3 toe syndact... |
OMIM:618653 |
Cog8-Cdg |
|
Ventriculomegaly, Ataxia, Protein-losing enteropathy, Myoclonus, Failure to thrive, Progressive m... |
ORPHA:95428 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Conjunctivitis, Gait disturbance, S... |
ORPHA:90322 |
Abetalipoproteinemia |
|
Osteopenia, Impaired vibratory sensation, Broad-based gait, Ataxia, Kyphoscoliosis, Impaired dist... |
ORPHA:14 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Hydrocephalus, Dysphagia, Meckel ... |
ORPHA:163961 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti... |
ORPHA:226307 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... |
ORPHA:95699 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic r... |
ORPHA:157215 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Type... |
ORPHA:352682 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Highly arched eyebrow, Microcephaly, Hydrocephalus, Upslanted palpebral fissure, Hypoplasia of th... |
OMIM:620157 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Agenesis of corpus callosum, A... |
ORPHA:990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Type II lissencephaly, Ventriculomegaly |
OMIM:614830 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Intestinal malrotation, Kyphosis, Upsl... |
OMIM:617602 |
Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han... |
ORPHA:887 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Microcephaly, Spinal rigidity, Kyphosis, Ptosis |
OMIM:615084 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Short neck, Downslanted palpebral fi... |
ORPHA:1438 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, High palate, Scoliosis |
OMIM:300676 |
Coffin-Siris Syndrome 12 |
|
Synophrys, High palate, Gastroesophageal reflux, Hippocampal atrophy, Joint laxity, Highly arched... |
OMIM:619325 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Epicanthus, Telecanthus, Palpebral edema, Blepharophimosis, 3-4 finger cutaneo... |
OMIM:181270 |
Peho Syndrome |
|
Epicanthus, Palpebral edema, Microcephaly, Tapered finger, Hydrocephalus, Flexion contracture, Li... |
ORPHA:2836 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:95716 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Epicanthus, Kyphosis, Spastic tetraplegia, Upslanted palpebral fissure, Gast... |
OMIM:619909 |
Wilson Disease |
|
Back pain, Increased body weight, Weight loss, Clumsiness, Arthritis, Joint swelling, Difficulty ... |
ORPHA:905 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, Gait disturbance... |
ORPHA:812 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Ptosis, Joint stiffness, Blepharophimosis, Submucous cl... |
ORPHA:2588 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr... |
OMIM:607485 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Ataxia, Short toe, 2-3 toe syndactyly, Obes... |
OMIM:139210 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresia |
OMIM:300952 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Myoclonus, Dysphagia, Cerebral cortical atrophy, Ptosis |
ORPHA:97229 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Ver... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Ver... |
ORPHA:352665 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Epicanthus, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synophry... |
OMIM:619557 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Joint dislocation, Telecanthus, Arachnodactyly, Delayed cranial suture closure, Int... |
OMIM:601776 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Short neck, High, narrow palate, Congenital contracture, High palate, Cavum se... |
OMIM:208150 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Microcephaly, Hydr... |
ORPHA:1908 |
Dent Disease |
|
Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula, Bifid thoracic vertebrae, Eyelid coloboma, Foot polydac... |
ORPHA:268249 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Microcephaly, Tapered fi... |
ORPHA:464311 |
Toriello-Carey Syndrome |
|
Ventriculomegaly, Telecanthus, Abnormal pinna morphology, Short palpebral fissure, Short stature,... |
ORPHA:3338 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Hy... |
OMIM:619475 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Gastroesophageal reflux, Clinodactyly... |
ORPHA:464306 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Cleft palate, Slender finger, Dandy-Walker malformation, Ptosis |
OMIM:147800 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Hallux valgus, Epicanthus, Speech apraxia, Slender build, Anterior pituitary hypopl... |
ORPHA:466791 |
L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturban... |
ORPHA:275543 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Hypertonia, Agenesis of corpus callosum, Dandy-Walker malformati... |
OMIM:264090 |
Alg9-Cdg |
|
Lower limb spasticity, Prominent metopic ridge, Telecanthus, Villous atrophy, Delayed cranial sut... |
ORPHA:79328 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Microcephaly, Hiatus hernia, Malabsorption, Partial agenes... |
ORPHA:50 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Ulnar bowing, Limitat... |
OMIM:211350 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Microcephaly, Spinal rigidity, Kyphosis, Dysphagia, Ptosis |
ORPHA:352447 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Osteoporosis, Scoliosis |
OMIM:615381 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Sandal gap, Abnormal eyelid morphology, Hydrocephalus, Abnormal fibula morphology, Cl... |
ORPHA:1812 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Broad femoral neck, Increased intervertebral space, Broad isch... |
OMIM:619727 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Rubinstein-Taybi Syndrome 1 |
|
High, narrow palate, Flexion contracture, Hepatic hemangioma, High palate, Gastroesophageal reflu... |
OMIM:180849 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, High palate, Short metacarpal, Highly a... |
OMIM:303600 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Abnormal cortical gyration... |
ORPHA:2211 |
1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Abnormality... |
ORPHA:1606 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Short metatarsal, High palate, Clinodactyly of the 5th finger, Short phal... |
OMIM:266920 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Hooded eyelid, Anter... |
OMIM:619841 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Short phalanx of finger, Genu va... |
ORPHA:221016 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Subependymal cysts, High palate, Loss of ambulation, Wide anterior fontanel,... |
OMIM:214100 |
Mgat2-Cdg |
|
Osteopenia, Kyphosis, Long eyelashes, Gastroesophageal reflux, Scoliosis, Failure to thrive, Down... |
ORPHA:79329 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal... |
OMIM:613091 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Unilateral ptosis, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Megalencephaly,... |
ORPHA:3063 |
Arachnoid Cyst |
|
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Posterior fossa cyst at the fourth ve... |
ORPHA:2356 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Cerebral calcification, Small for gestational age, Intestinal malrotati... |
OMIM:613658 |
Craniofrontonasal Syndrome |
|
Joint laxity, Telecanthus, Toe syndactyly, Broad hallux, Down-sloping shoulders, Short neck, Clef... |
OMIM:304110 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Short neck, Progressive intervertebral space narrowing, ... |
ORPHA:1716 |
Celiac Disease, Susceptibility To, 1 |
|
Cerebral calcification, Ataxia, Celiac disease, Osteoporosis, Rickets, Weight loss, Steatorrhea, ... |
OMIM:212750 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Thin corpus callosum, Hydrocephalus, Obesity, Cerebral atrophy |
OMIM:616521 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Hydrocephalus, Spli... |
ORPHA:974 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Fat malabsorption, Failure to thrive, Rickets |
OMIM:211600 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Osteolysis, Weight loss, Joint swelling, X... |
ORPHA:35687 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Absent eyelashes, Flexion contracture, Limitation of joint mobility,... |
ORPHA:90153 |
Alveolar Echinococcosis |
|
Low back pain, Abnormal pelvis bone morphology, Ataxia, Bone cyst, Weight loss, Hemiparesis, Abno... |
ORPHA:284 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Broad long bones, Sparse eyelashes, Epicanthus, Fifth finger distal phalanx... |
OMIM:257850 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly |
ORPHA:324416 |
Pfapa Syndrome |
|
Arthritis, Weight loss, Malabsorption |
ORPHA:42642 |
Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Postaxial hand polydactyly, High, narrow palate, Cleft pal... |
ORPHA:3378 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Small for gestational age, Decreased response to growth hormone stimulation test, Sho... |
OMIM:180860 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Pachygyria, Short p... |
OMIM:606170 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Small for gestational age, Elevated circulating luteinizing hormone level, Bifid dist... |
OMIM:618419 |
Classic Hodgkin Lymphoma |
|
Ataxia, Osteolysis, Weight loss |
ORPHA:391 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Dysplastic corpus callosum |
OMIM:618810 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Craniosynostosis, Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus c... |
ORPHA:1496 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Joint stiffness, ... |
ORPHA:465508 |
Calcification Of Joints And Arteries |
|
Intervertebral disk calcification, Ectopic ossification |
OMIM:211800 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Postaxial hand polydactyl... |
OMIM:608091 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Epicanthus, Short neck, Prominent crus of helix, Kyphosis, Broad distal phalanx ... |
OMIM:619194 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hypo... |
ORPHA:3412 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Proximal placement of thumb, Microcephaly, Tapered finger, Shor... |
ORPHA:251071 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Pyloric stenosis, Hydrocephalus, Flexion contracture, Slender toe, High palate, D... |
OMIM:310400 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Prominent metopic ridge, Epicanthus, Anterior pituitary hypoplasia... |
OMIM:613457 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypoplastic... |
ORPHA:3455 |
Lessel-Kreienkamp Syndrome |
|
Epicanthus, Wide cranial sutures, Upslanted palpebral fissure, Gastroesophageal reflux, Clinodact... |
OMIM:619149 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies... |
OMIM:219090 |
Mast Cell Sarcoma |
|
Weight loss, Hypoplasia of the ear cartilage |
ORPHA:66661 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, High, narrow palate, Abnormal finger morphology, Apl... |
ORPHA:3472 |
Cystinosis |
|
Malabsorption, Rickets, Abnormal pyramidal sign, Gait disturbance, Failure to thrive |
ORPHA:213 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... |
ORPHA:90291 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Osteoporosis, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Gastroesophageal reflux, Osteomalacia, Joint hyperflexibility, Scoliosis, Abnormal metaph... |
ORPHA:534 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:219080 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyelid morphology, Abnormal eyebrow morphology, Weight loss |
ORPHA:2221 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... |
OMIM:207950 |
Cockayne Syndrome B |
|
Small for gestational age, Ataxia, Microcephaly, Tremor, Kyphosis, Basal ganglia calcification, L... |
OMIM:133540 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Hemi... |
ORPHA:394 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Tapered finger, Malabsorption, Furrowed tongue, Hamartomatous pol... |
ORPHA:2930 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Limited elbow movement, Short neck, Proximal placement of thumb, Synophrys, High p... |
OMIM:610759 |
Becker Nevus Syndrome |
|
Kyphosis, Abnormal tibia morphology, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610475 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Epicanthus, Ventriculomegaly, Hearing impairment |
ORPHA:363444 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Partial agenesis of the corpus callosum, Unsteady gait, Gait ataxia, Con... |
OMIM:618109 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, High palate, Agenesis of corpus callosum, Dandy-Walker malformatio... |
ORPHA:2745 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus callosum atrophy, Kypho... |
ORPHA:171629 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Tibial bowing, Hypopla... |
ORPHA:96334 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Microcephaly, Wide anterior fontanel, High, nar... |
OMIM:616920 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Oculomotor apraxia, Esophage... |
ORPHA:2072 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, H... |
ORPHA:508498 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Microcephaly, Hydrocephalus, Postaxial hand polydactyly,... |
OMIM:611134 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Genu recurvatum, Hydrocephalus, Hyperostosis, Limbal dermoid, Downsl... |
ORPHA:2969 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... |
OMIM:608612 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex congenita, Ptosis |
OMIM:617143 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Su... |
ORPHA:899 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of... |
OMIM:175500 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Epicanthus, Hyperlordosis, Synophrys, Clinodactyly of the 2nd finger, C... |
ORPHA:73223 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607765 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, High pala... |
OMIM:216340 |
Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Epicanthus, Camptodactyly of finger, Palpebral edema, Microcephaly... |
ORPHA:261337 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Pos... |
OMIM:607812 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Pachygyria, Agenesis of corpu... |
ORPHA:2308 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Microcephaly, Alobar holoprosencephaly, Vertebral clefting, Submucous clef... |
OMIM:301043 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Joint stiffness, Coxa valga, Flexion contracture, Elbow flexi... |
OMIM:248370 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal stenosis... |
OMIM:619534 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Prominent metopic ridge, Epicanthus, Overlapping toe, Small for gestational age, M... |
OMIM:619148 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Temporal co... |
ORPHA:263508 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Epicanthus, Short 3rd toe, Tapered finger, Microcephaly, Short thumb, Split hand, Dysplastic corp... |
OMIM:618569 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intestinal atresia |
ORPHA:93941 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Telecanthus, Highly arched eyebrow, Short neck, Microcephaly, Spastic te... |
ORPHA:495818 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Joint swelling, Polyarti... |
OMIM:180300 |
Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma ... |
OMIM:269860 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... |
OMIM:218350 |
Rett Syndrome, Congenital Variant |
|
Apraxia, Dystonia, Kyphosis, Chorea, Simplified gyral pattern, Athetosis, Gastroesophageal reflux... |
OMIM:613454 |
Primrose Syndrome |
|
Cerebral calcification, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone mi... |
OMIM:259050 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... |
ORPHA:221008 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Split hand, Abnormal tibia morphology, Anencephaly, Cleft palate, A... |
ORPHA:1335 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Small hand, Short foot, Slender long bone, Short palm... |
OMIM:244460 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Highly arched eyebrow, Microcephaly, Hydrocephalus, Obesity, Upslan... |
OMIM:620155 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Abnormality of the gastrointestinal tract, Osteomyelitis, Decreased response to growt... |
ORPHA:811 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Epicanthus, Craniosynostosis, Short neck, Postaxial hand polydactyly, Upslante... |
OMIM:200995 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Microcephaly, Hamart... |
OMIM:174300 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Anteriorly placed anus, Gastroesophageal reflux, Syndactyly, Wide... |
OMIM:612289 |
Idiopathic Camptocormia |
|
Abnormal intervertebral disk morphology, Parkinsonism, Osteoarthritis, Spinal canal stenosis, Cer... |
ORPHA:1320 |
20Q11.2 Microduplication Syndrome |
|
Prominent metopic ridge, Sacral dimple, Epicanthus, Palpebral edema, Microcephaly, Short foot, Do... |
ORPHA:363659 |
Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Abnormal eyelid morphology, Kyphosis, Hydrocephalus... |
ORPHA:636 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Joint stiffness, Flexion contracture, Weight loss, Reduced bone mineral density |
ORPHA:1979 |
Micro Syndrome |
|
Microcephaly, Joint stiffness, Kyphosis, Aplasia/Hypoplasia of the corpus callosum, High palate, ... |
ORPHA:2510 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Malabsorption, Arthritis, Macroglossia, Anterior be... |
ORPHA:93 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Cachexia, Kyphosis, Genu varum, Scoliosis, Short hard palate, Ptosis |
ORPHA:1969 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal eyelid morphology, Anorectal anomaly, Gastroesophageal reflux, Arachnodactyl... |
ORPHA:567 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Short neck, Postaxial hand polydactyly, Cleft palate, High palate, Protein-losing enteropathy, Do... |
OMIM:235255 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Epicanthus, Malabsorption, Elbow dislocation, Osteoarthritis, Limitation of jo... |
ORPHA:285 |
Peters-Plus Syndrome |
|
Limited elbow movement, Short neck, Proximal placement of thumb, Hemivertebrae, Short metatarsal,... |
OMIM:261540 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Hydrocephalus, Narrow palate, Cleft palate, Anteriorly placed anus, Downslanted... |
ORPHA:1555 |
Cockayne Syndrome A |
|
Hip contracture, Ataxia, Microcephaly, Tremor, Kyphosis, Basal ganglia calcification, Limitation ... |
OMIM:216400 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyro... |
ORPHA:90674 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of the 5th finger, Cavum s... |
OMIM:274000 |
Trisomy 18 |
|
Epicanthus, Camptodactyly of finger, Cachexia, Microcephaly, Spina bifida, Esophageal atresia, Po... |
ORPHA:3380 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Epicanthus, Telecanthus, Delayed closure of the anterior fontanelle, Wi... |
OMIM:225410 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, High pa... |
ORPHA:506358 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Clinodactyly, Lobulated tongue, Agenesis of corpus callosum,... |
OMIM:249000 |
Diamond-Blackfan Anemia 1 |
|
Epicanthus, Failure to thrive, Short neck, Microcephaly, Short thumb, Absent thumb, Hypoplastic i... |
OMIM:105650 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Malabsorption, Weight loss, Arthritis, Glossoptosis, Conjunctivitis, Failure to th... |
ORPHA:47 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren... |
ORPHA:565 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Ataxia, Cachexia, Malabsorption, Hydrocephalus, Abnormal pyramidal s... |
ORPHA:3452 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Cerebral white... |
ORPHA:168577 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostosis of carpal b... |
ORPHA:1507 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Ptosis, Genu recurvatum, Microcephaly, Hip dislocation, Abnormal curvat... |
ORPHA:90348 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of corpus call... |
ORPHA:2273 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Sandal gap, Absent septum pellucidum, Postaxial polydactyly, Foc... |
OMIM:612651 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Incoordination, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladde... |
ORPHA:512 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cereb... |
OMIM:230500 |
Cardiofacioneurodevelopmental Syndrome |
|
Microcephaly, Kyphosis, Cleft palate, Upslanted palpebral fissure, Camptodactyly, Clinodactyly of... |
OMIM:619123 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Microcephaly, Hydrocephalus, Upper motor neuron dysfunction, Hemip... |
ORPHA:395 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Sl... |
ORPHA:558 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets, Hepatocellular carcinoma, Failure to thrive |
ORPHA:2088 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Hypointensity of cerebral white matter on MRI, Intestinal pseudo-obstruction... |
OMIM:603041 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Hypertonia, Gastroesophageal reflux, Ataxi... |
ORPHA:268261 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Epicanthus, Telecanthus, Short neck, Kyphosis, Cleft palate, Upslanted... |
OMIM:616894 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Pyloric stenosis... |
ORPHA:381 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Hydrocephalus, Reduced b... |
ORPHA:667 |
Tarp Syndrome |
|
Failure to thrive, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Large fon... |
OMIM:311900 |
Xfe Progeroid Syndrome |
|
Cachexia, Microcephaly, Poor coordination, Scoliosis, Failure to thrive, Ventriculomegaly |
OMIM:610965 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Sparse eyelashes, Small ... |
ORPHA:2909 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Malabsorption, Osteoporosis, Osteolysis, Weight loss, Pathologic fra... |
ORPHA:98850 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Short sternum, ... |
OMIM:258850 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Pla... |
ORPHA:93317 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Epicanthus, Cerebral... |
ORPHA:46059 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Kyphoscoliosis, Microcephaly, Tapered finger, Kyphosis, Coxa valga, Protruding tongue... |
OMIM:301040 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate |
OMIM:168500 |
Thymic Carcinoma |
|
Palpebral edema, Weight loss |
ORPHA:99868 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Failure to thrive, Rickets, Steatorrhea |
ORPHA:79303 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Impaired pain sensation, Kyphosis, Increased femoral anteversion, Extra-ax... |
OMIM:619005 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Metopic depression, Decreased calvarial ossif... |
ORPHA:313855 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... |
ORPHA:444077 |
Felty Syndrome |
|
Abnormal joint morphology, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Arth... |
ORPHA:47612 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Periventricular leukomalacia, Cerebral calcification, Small for gestation... |
OMIM:620024 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Microcephaly, Joint stiffness, Hydrocephalus, Broad thumb, Thick eyebrow |
ORPHA:585 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610489 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, B... |
OMIM:137440 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Malan Syndrome |
|
Coxa valga, Long fingers, Scoliosis, Hypoplasia of the corpus callosum, Downslanted palpebral fis... |
OMIM:614753 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Hypertonia, Gastr... |
ORPHA:818 |
Multiple Myeloma |
|
Osteopenia, Functional abnormality of the gastrointestinal tract, Weight loss, Paresthesia, Patho... |
ORPHA:29073 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Absent ... |
OMIM:610828 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate,... |
ORPHA:201 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Short stature, Abnormal eyelid morphology, Weight loss, Conjunctivit... |
ORPHA:37 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, C... |
ORPHA:206436 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Abnormality of ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Abnormality of ... |
ORPHA:353277 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets |
OMIM:611590 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Hemiplegia/hemiparesis, Pituita... |
ORPHA:144 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5th fing... |
ORPHA:2750 |
Fryns Syndrome |
|
Meckel diverticulum, Aganglionic megacolon, Rocker bottom foot, Proximal placement of thumb, Shor... |
OMIM:229850 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Atelis Syndrome 2 |
|
Sacral dimple, Epicanthus, Microcephaly, Kyphosis, Dysmetria, High palate, Gastroesophageal reflu... |
OMIM:620185 |
Wilson Disease |
|
Limb dystonia, Dystonia, Poor motor coordination, Osteomalacia, Joint hypermobility, Tremor, Hypo... |
OMIM:277900 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Abnormal social ... |
ORPHA:309263 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Eosinophilic infiltration of the esophagus, Hydro... |
OMIM:609192 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Trichiasis, Sparse eyebrow, Kyphosis, High palate, Thin eyebrow, Radial deviation of f... |
OMIM:609944 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Cone-shaped epiphysis, Fused ce... |
OMIM:157800 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Cleft palate, Upslante... |
ORPHA:1724 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Ventriculomegaly, R... |
ORPHA:355 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short neck, Postaxial polydactyly, Hamartoma of tongue, Hydrocephalus, Preaxia... |
OMIM:616546 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Low back pain, Weight loss, Neoplasm of the liver |
ORPHA:2126 |
Mandibuloacral Dysplasia |
|
Abnormal tongue morphology, Contractures of the large joints, High palate, Osteolytic defects of ... |
ORPHA:2457 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic movements,... |
ORPHA:93958 |
Coccidioidomycosis |
|
Osteomyelitis, CSF pleocytosis, Hydrocephalus, Osteolysis, CSF lymphocytic pleiocytosis, Abnormal... |
ORPHA:228123 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Lacrimal duct stenosis, Dilatated internal auditory canal, Hypoplasia o... |
OMIM:113650 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Telecanthus, Craniosynostosis |
ORPHA:1064 |
Hydrolethalus |
|
Absent septum pellucidum, Hydrocephalus, Submucous cleft hard palate, Postaxial hand polydactyly,... |
ORPHA:2189 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight, Anal atresia |
OMIM:182210 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus, Cleft palate, Microcephaly |
ORPHA:398189 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Intestinal pseudo-obstruction, Ataxia, Impaired distal proprioception, Hypoesth... |
OMIM:607459 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cachexia, Microcephaly, Sparse or ... |
ORPHA:217346 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Spastic diplegia, Congen... |
OMIM:300048 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Ventriculomegaly, Prominent metopic ridge, Ulnar deviation of the wrist, Micro... |
ORPHA:97297 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Recurrent fractures, Malabsorption, Hydrocephalus, Os... |
ORPHA:168569 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Short neck, Postaxial hand polydactyly, High palate, Protein-losing enteropathy, Downslanted palp... |
ORPHA:1655 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary null cell adenoma, Pituitary adenoma, Weight loss, Pituitary prolactin cell... |
ORPHA:97289 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ... |
OMIM:607015 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Hemiplegia/hemiparesis, Pit... |
ORPHA:440437 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Agenesis... |
OMIM:312870 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Cerebral calcification, Spina bifida, Microcephaly, Kyphosis, Myelomeningocele, ... |
ORPHA:1393 |
Takayasu Arteritis |
|
Arthritis, Gastrointestinal infarctions, Weight loss |
ORPHA:3287 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Epicanthus, Small for gestational age, Absent septum pellucidum, Microcephaly, Sensorineural hear... |
OMIM:618500 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Weight loss |
ORPHA:94080 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
Branchiooculofacial Syndrome |
|
Telecanthus, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Shor... |
OMIM:113620 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Short neck, Abnormal eyelid morphology, H... |
OMIM:300855 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Syndactyly, Hamar... |
OMIM:311200 |
Coffin-Siris Syndrome 1 |
|
Partial agenesis of the corpus callosum, Prominent interphalangeal joints, Gait ataxia, High pala... |
OMIM:135900 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Symphalangism affecting the phalanges of t... |
ORPHA:2547 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decre... |
ORPHA:95494 |
Immunodeficiency 49 |
|
Reduced cerebral white matter volume, Spastic tetraplegia, Upslanted palpebral fissure, Wormian b... |
OMIM:617237 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Epicanthus, Limited elbow movement, Short neck, Wide ant... |
OMIM:218040 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Inflammation of the large ... |
OMIM:106300 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy |
OMIM:615181 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... |
ORPHA:97339 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Joint ... |
ORPHA:29207 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, P... |
OMIM:610168 |
Cockayne Syndrome |
|
Cerebral calcification, Basal ganglia calcification, Congenital contracture, Progressive gait ata... |
ORPHA:191 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Arachnodactyly, Delayed cranial suture closure, Shallow orbits |
ORPHA:1129 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoplasia of the femoral head, Weight loss |
OMIM:209950 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Foot o... |
OMIM:305600 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Cleft palate, Scoliosis, Microcephaly |
ORPHA:261190 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Dystonia, Microcephaly, Wide anterior fontanel, Dermatochalasis, Pyloric stenosis, ... |
ORPHA:90349 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Agenesis of corpus... |
ORPHA:2538 |
Cerebral Visual Impairment |
|
Cerebral palsy, Microcephaly, Hydrocephalus, Clumsiness, Abnormal cerebral white matter morpholog... |
ORPHA:447788 |
Eosinophilic Fasciitis |
|
Arthritis, Paresthesia, Weight loss |
ORPHA:3165 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Congenital Sialidosis Type 2 |
|
Ataxia, Protruding tongue, Hydrocephalus, Dysmetria, Polydactyly, Myoclonus, Spasticity |
ORPHA:93400 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Keratoconjunctivitis sicca, Colitis, Steatorrhea |
ORPHA:309031 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Epicanthus, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, High palate, Gastroesop... |
OMIM:300896 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... |
ORPHA:109 |
Limb Body Wall Complex |
|
Encephalocele, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida,... |
ORPHA:2369 |
Cowden Syndrome 5 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... |
OMIM:615108 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Anal atresia |
OMIM:312190 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Weight loss |
OMIM:605543 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Hearing impairment |
ORPHA:65682 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Cerebral dysmyelination, Sen... |
OMIM:609136 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus, Partial agenesis of the ... |
OMIM:614643 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Bone cyst, Weight loss |
ORPHA:400 |
Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Kyphosis, Truncal obesity, Hyperostosis fr... |
OMIM:203800 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Abnormal metaphysis morphology, Ataxia |
ORPHA:1861 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla... |
ORPHA:99413 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla... |
ORPHA:881 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... |
OMIM:607361 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Absent thumb, Microcephaly, Short thumb, Hydrocephalus, Preaxial hand ... |
OMIM:227646 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Meningocele, Camptodactyly of finger, Duodenal stenosis |
ORPHA:1759 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Vertigo, Weight loss, Sensorineural hearing impairment |
ORPHA:3226 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube... |
ORPHA:268810 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Hydrocephalus, Esophageal atresia, T... |
OMIM:614083 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Decreased response to growth hormone stimulation test, Short neck, Kyphosis, Hemivert... |
OMIM:618223 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Abnormal small intestine morpholo... |
OMIM:219000 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Short stature, Highly arched eyebrow, Micr... |
ORPHA:138 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Cerebral calcification, Hydrocephalus, Hyperostosis, Dysphagia, Cere... |
ORPHA:3205 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... |
ORPHA:2070 |
Cowden Syndrome 6 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... |
OMIM:615109 |
Yao Syndrome |
|
Arthritis, Keratoconjunctivitis sicca, Xerostomia, Weight loss |
OMIM:617321 |
Somatomammotropinoma |
|
Cerebral palsy, Palpebral edema, Macrodactyly, Elevated circulating growth hormone concentration,... |
ORPHA:314769 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Keratoconjunctivitis, Weight loss |
ORPHA:79242 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... |
ORPHA:349 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Delayed closure of the anterior fontan... |
OMIM:127000 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Polymyositis |
|
Gastrointestinal hemorrhage, Weight loss, Arthritis, Gastroesophageal reflux, Gait disturbance, C... |
ORPHA:732 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Microcephaly, Hydrocephalus, Preaxial polydactyly, Cleft... |
OMIM:243605 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clonus, Cerebral white matter hypoplasia, Tapered finger, Sparse eyebrow, Short thumb, Synophrys,... |
ORPHA:477993 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Microcephaly, Elbow dislocation, Irregular femoral epiphysis, Patellar a... |
OMIM:613805 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morphology, N... |
ORPHA:653 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Short palm, Hemiplegia, Ptosis |
ORPHA:3217 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Odynophagia, Vocal cord paralysis, Weight loss, Abnormali... |
ORPHA:221098 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Posterio... |
OMIM:306955 |
Cowden Syndrome 1 |
|
Colonic diverticula, Kyphosis, Hemimegalencephaly, Furrowed tongue, Hamartomatous polyposis, High... |
OMIM:158350 |
Giant Cell Arteritis |
|
Ataxia, Joint stiffness, Weight loss, Arthritis, Gastrointestinal infarctions, Paresthesia, Gloss... |
ORPHA:397 |
Rhabdoid Tumor |
|
Hemiplegia, Neoplasm of the liver, Cerebral palsy, Weight loss |
ORPHA:69077 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Microcephaly, Meningoen... |
OMIM:236670 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Cortical thicken... |
ORPHA:93325 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis, ... |
OMIM:162200 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density |
ORPHA:1237 |
B4Galt1-Cdg |
|
Hydrocephalus, Small for gestational age, Dandy-Walker malformation |
ORPHA:79332 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Hartsfield Syndrome |
|
Syndactyly, Epicanthus, Craniosynostosis, Microcephaly, Alobar holoprosencephaly, Gonadotropin de... |
OMIM:615465 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbi... |
OMIM:268300 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Down-sloping shoulders, Kyphoscoliosis, ... |
OMIM:309800 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Rigidity, Parkinsonism with favorable response ... |
ORPHA:411602 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Malabsorption, Hemiplegia/hemiparesis, Weight loss, Arthritis, Gastroesop... |
ORPHA:183 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Oeis Complex |
|
Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Sacral ... |
OMIM:258040 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Intestinal malrotation, Short hallux, Highly arched eyebrow, Aqueduc... |
OMIM:620305 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Hemangioblastoma |
|
Dysesthesia, Retinal capillary hemangioma, Hydrocephalus |
ORPHA:252054 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Hydrocephalus, Myelomeningocele, Meni... |
OMIM:600145 |
Short Syndrome |
|
Telecanthus, Weight loss, Joint hyperflexibility, Short palm, Brachydactyly |
ORPHA:3163 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... |
OMIM:300942 |
Acromegaly |
|
Cerebral palsy, Palpebral edema, Macrodactyly, Elevated circulating growth hormone concentration,... |
ORPHA:963 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus, Arthritis, Failure to thrive, Ventriculomegaly |
OMIM:304790 |
Immunodeficiency 31C |
|
Osteopenia, Villous atrophy, Osteomyelitis, Weight loss, Gastrointestinal eosinophilia, Protein-l... |
OMIM:614162 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Weight loss |
ORPHA:449400 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Eyelid coloboma, Hypoplasia of the corpus ... |
OMIM:613001 |
Six2-Related Frontonasal Dysplasia |
|
Small for gestational age, Wide anterior fontanel, Premature posterior fontanelle closure, Metopi... |
ORPHA:488437 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Microcephaly, Bilateral pt... |
ORPHA:163979 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Abn... |
ORPHA:107 |
Late-Onset Isolated Acth Deficiency |
|
Celiac disease, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Generalized bone demin... |
ORPHA:199299 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Short neck, Tremor, Synophrys, High palate, Clinodactyly of the 5th finger, Prominent fingertip p... |
OMIM:612474 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of c... |
OMIM:309801 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syn... |
OMIM:107480 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ventriculomegaly, Epicanthus, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Posta... |
ORPHA:93271 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Cleft soft palate, Intestinal malrotation, Microcephaly, Hydrocephalus, Fle... |
OMIM:619321 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Scedosporiosis |
|
Septic arthritis, Arthralgia/arthritis, Abnormal jejunum morphology, Osteomyelitis |
ORPHA:449280 |
Dextrocardia |
|
Meckel diverticulum, Hydrocephalus, Congenital hip dislocation, Intestinal malrotation |
ORPHA:1666 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Atrophic gastritis, Intracerebral periventricular calcifications, Dystonia... |
OMIM:615846 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Rickets, Osteomalacia, Malabsorption |
OMIM:227810 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Accumulation of lipid droplets in small-bowel en... |
OMIM:246700 |
Isotretinoin-Like Syndrome |
|
Microcephaly, Postnatal growth retardation, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, U... |
ORPHA:2306 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Microcephaly, Weight loss, Clumsiness, Arthritis, Abnormal c... |
ORPHA:420741 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Ataxia, Cachexia |
ORPHA:42 |
Lymphoid Interstitial Pneumonia |
|
Clubbing, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis, Failure to thrive |
ORPHA:79128 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Macroglossia, Hypopit... |
OMIM:613038 |
Tetrasomy 9P |
|
Joint dislocation, Sacral dimple, Hypoplastic scapulae, Epicanthus, Short neck, Hydrocephalus, Po... |
ORPHA:3310 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Clubbing, Intestinal malrotation, Ventriculomegaly |
ORPHA:244 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Weight loss |
ORPHA:370348 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Pyloric stenosis, Hypertonia, Failure to thrive, Ectropion |
OMIM:616395 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Joint stiffness, Decreased fibular diameter, Sparse eyebrow, Flexion cont... |
OMIM:619127 |
Fatal Familial Insomnia |
|
Cerebral cortex with spongiform changes, Weight loss |
OMIM:600072 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, R... |
ORPHA:2495 |
Cystinosis, Nephropathic |
|
Cerebral calcification, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Metaphyseal wide... |
OMIM:219800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, ... |
ORPHA:91347 |
Vascular Hyalinosis |
|
Hematochezia, Cerebral calcification, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Aplasia of the semicircular canal, Sensorineura... |
ORPHA:648 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosi... |
OMIM:600775 |
Floating-Harbor Syndrome |
|
Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Brach... |
OMIM:136140 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Horner syndrome, Weight loss |
OMIM:256700 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... |
ORPHA:744 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal central motor function, Bowing of the legs, Gastrointestinal stroma tumor, K... |
ORPHA:97685 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Blepharitis, Duodenitis |
OMIM:614328 |
Aspartylglucosaminuria |
|
Joint laxity, Microcephaly, Kyphosis, Cerebral atrophy, Spasticity, Macroglossia, Platyspondyly, ... |
OMIM:208400 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Lhermitte-Duclos Disease |
|
Ataxia, Hydrocephalus, Macroglossia, Hand polydactyly, Polymicrogyria |
ORPHA:65285 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Pain insensitivity, Intestinal perforation, Weig... |
ORPHA:679 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Limitation of joint mobility, Abno... |
ORPHA:580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Kyphosis, High, narrow palate, High palate, Scoliosis, Calcification... |
OMIM:177850 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Obesity |
OMIM:601794 |
Down Syndrome |
|
Joint laxity, Epicanthus, Sandal gap, Aganglionic megacolon, Protruding tongue, Hypoplastic iliac... |
OMIM:190685 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Prominent metopic ridge, Ataxia, Bilateral ptosis, Weight loss, Lower-limb joint contracture, Apr... |
ORPHA:99885 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Reduced bone mineral density, High palate, Shallow orbits, Limitation of movement... |
ORPHA:740 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Microcephaly |
ORPHA:530983 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Failure to thrive, Protein-losing enteropathy |
ORPHA:79319 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Weight loss |
ORPHA:171876 |
Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal... |
ORPHA:54595 |
Peters Plus Syndrome |
|
Intestinal fistula, Sacral dimple, Toe syndactyly, Short neck, Microcephaly, Hydrocephalus, Short... |
ORPHA:709 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Villous atrophy, Atrophic gastritis, Arthritis, Clubbing of fingers, Inflammation of the large in... |
OMIM:614700 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Small for gestational age, Short thumb, An... |
ORPHA:1708 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Upslanted palpebral fissure, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Short neck, Flexion contracture, Anteriorly placed anus, Camptodactyl... |
OMIM:601803 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Telecanthus, Multiple joint contractures, Entropion, Camptod... |
ORPHA:1662 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Hydrocephalus, Conjunctivitis, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Holoprosencephaly 14 |
|
Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocepha... |
OMIM:619895 |
Cat Eye Syndrome |
|
Epicanthus, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia,... |
OMIM:115470 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Generalized joint laxity, High palate, Gastroesophageal r... |
OMIM:619472 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Spasticity |
ORPHA:1946 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Microcephaly, Hydrocephalus, Spasticity |
ORPHA:220295 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ... |
ORPHA:51608 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... |
OMIM:616538 |
Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Weight loss |
ORPHA:514 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, C... |
ORPHA:2166 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Choroid plexus cyst, Tracheoesophageal fistula, Cleft... |
OMIM:265380 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Weight loss, Arthritis, ... |
OMIM:619381 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Craniosynostosis, Tapered finger, Microcephaly, Small hand, Hip dysplasia, Blepharophimosis, Dela... |
OMIM:620005 |
Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Kyphosis, Basal ganglia calcification, Flexion contracture, Unstea... |
ORPHA:90324 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, High, narrow palate, Hydroc... |
ORPHA:228308 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Abnormal pelvic girdle bone morphology, Platyspondyly, Failure to thrive, Growth arrest lines |
OMIM:102700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss, Osteoporosis, Peptic ulcer, Increased susceptibility to fractures |
ORPHA:98849 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Anal stenosis, Intestinal malrotation,... |
ORPHA:2729 |
Carney-Stratakis Syndrome |
|
Weight loss, Tinnitus, Hearing impairment |
ORPHA:97286 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus, Telecanthus |
OMIM:601499 |
Neonatal Lupus Erythematosus |
|
Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology |
ORPHA:398124 |
Ayme-Gripp Syndrome |
|
Ptosis, Broad eyebrow, Tapered finger, Cerebral atrophy, Upslanted palpebral fissure, Radioulnar ... |
OMIM:601088 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, Hypopituitarism |
ORPHA:90065 |
Periventricular Nodular Heterotopia 9 |
|
Prominent metopic ridge, Epicanthus, Broad-based gait, Tapered finger, Microcephaly, Synophrys, H... |
OMIM:618918 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
47,Xyy Syndrome |
|
Finger clinodactyly, Increased circulating gonadotropin level, Hydrocephalus |
ORPHA:8 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Bilateral ptosis, Weight loss, Abnormal cerebral white matter morphology, High pa... |
OMIM:164310 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Microcephaly, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Failure to thr... |
OMIM:277400 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Spastic gait, Dysmetria, Decreased... |
ORPHA:96180 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Abnormal nasolacrimal system morphology, Absent septum pellucidum, Abnormal eyelid... |
ORPHA:2556 |
Sarcoidosis, Susceptibility To, 1 |
|
Bone cyst, Clubbing, Enlarged lacrimal glands, Weight loss, Arthritis, Inflammation of the large ... |
OMIM:181000 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion cont... |
ORPHA:821 |
Craniofacial Microsomia 1 |
|
Ptosis, Occipital encephalocele, Block vertebrae, Blepharophimosis, Hydrocephalus, Partial duplic... |
OMIM:164210 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Pituitary null cell adenoma, Elevated circulating growth hormone concentration, P... |
ORPHA:652 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Weight loss |
ORPHA:276621 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Ulcerative colitis, Rheumatoid arthritis, Weight loss |
ORPHA:99867 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Wolman Disease |
|
Growth delay, Cachexia |
ORPHA:75233 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Weight loss, Arthritis, P... |
ORPHA:91139 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Leukoencephalopathy, Poor fine motor coord... |
ORPHA:79282 |
Icf Syndrome |
|
Communicating hydrocephalus, Epicanthus, Malabsorption, Protruding tongue, Macroglossia |
ORPHA:2268 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Arachnoiditis |
|
Hydrocephalus, Paresthesia |
ORPHA:137817 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... |
OMIM:610829 |
Familial Pancreatic Carcinoma |
|
Back pain, Intestinal pseudo-obstruction, Functional intestinal obstruction, Weight loss, Neoplas... |
ORPHA:1333 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:219730 |
Rat-Bite Fever |
|
Back pain, Oligoarthritis, Weight loss, Arthritis, Septic arthritis, Parotitis |
ORPHA:31205 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Microcephaly, Preaxial... |
ORPHA:564 |
Polycythemia Vera |
|
Myelofibrosis, Gastrointestinal hemorrhage, Weight loss |
ORPHA:729 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Osteomyelitis, Small for gestational age, Chorea, Knee... |
ORPHA:1304 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Kyphosis, Cleft palate, Conjunctivitis, Distichiasis, Ectropion |
OMIM:153400 |
Cryptococcosis |
|
Osteomyelitis, Hydrocephalus, Osteolysis, Cerebral cortical atrophy, Cerebral edema |
ORPHA:1546 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Paroxysmal vertigo, Weight loss, Conductive hearing impairment, Retinal capil... |
ORPHA:29072 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Hydrocephalus, Abnormal basal ganglia morphology, Pachygyria, Agenesis of... |
ORPHA:157 |
African Trypanosomiasis |
|
Abnormal basal ganglia MRI signal intensity, Somatic sensory dysfunction, Abnormal central motor ... |
ORPHA:3385 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Weight loss... |
ORPHA:131 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Castleman Disease |
|
Myelofibrosis, Intestinal obstruction, Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:160 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Po... |
OMIM:612284 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Parathyroid Carcinoma |
|
Peptic ulcer, Osteoporosis, Weight loss, Dysphagia, Chondrocalcinosis |
ORPHA:143 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Palpebral edema, Limitation of joint mobility, Weight loss, Arthriti... |
ORPHA:93672 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
Infantile Nephropathic Cystinosis |
|
Abnormal cerebral white matter morphology, Failure to thrive, Rickets |
ORPHA:411629 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... |
ORPHA:1018 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Microcephaly, Leukoencephalopathy, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Epicanthus, Multiple joint contractures, Failure to thrive, Ataxia, Kyp... |
ORPHA:79318 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Absent septum pellucidum, Type II lissencep... |
OMIM:615287 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Osteoporosis, Ulcerativ... |
ORPHA:171 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Pituitary null cell adenoma,... |
ORPHA:913 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Ramon Syndrome |
|
Kyphosis, Narrow palate, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis |
OMIM:266270 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Ataxia, Malabsorption, Abnormal pyramidal sign, Weight loss, Hemipar... |
ORPHA:117 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Bilateral ptosis, Megaduodenum |
OMIM:611376 |
Acute Promyelocytic Leukemia |
|
Vertigo, Weight loss |
ORPHA:520 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Abnormal eyelid morphology, Microcephaly, Short neck, Anorectal anomaly,... |
ORPHA:647 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, I... |
ORPHA:85450 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis, Weight loss |
ORPHA:100085 |
Knobloch Syndrome |
|
Occipital encephalocele, Epicanthus, Pyloric stenosis, Hydrocephalus, Joint hyperflexibility |
ORPHA:1571 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior, Punctate periventricular T2 hyperintense foci |
ORPHA:309256 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Rheumatoid arthritis, Weight loss |
ORPHA:49041 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Osteolysis, Enterocolitis, Hematochezia, Mel... |
ORPHA:73263 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Cerebral atrophy, Depression, Dementia, Low frustration tol... |
ORPHA:646 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Entropion, Malabsorption, Intestinal perforation, Tracheoesophageal ... |
ORPHA:537 |
Chylomicron Retention Disease |
|
Fat malabsorption, Failure to thrive, Impaired proprioception, Steatorrhea |
ORPHA:71 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Epicanthus |
ORPHA:2184 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Weight loss, Arthritis, Inflammation of the large intestine,... |
OMIM:301074 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus, Calcification of falx cerebri |
OMIM:620343 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Kyphosis, Gastroesophageal reflux, Scoliosis, Dysphagia, Difficulty... |
OMIM:619482 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss |
ORPHA:134 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Conjunctivitis, Weight loss |
OMIM:608710 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cryptophthalmos, Cutaneous syndactyly |
OMIM:617667 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pituitary corticotropic cell ad... |
ORPHA:99889 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Cerebral cortical atrophy, Abnormal cortical gyration |
ORPHA:314647 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Hepatocellular carcinoma |
OMIM:601847 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Colitis, ... |
ORPHA:37042 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, Clinodactyly, 2-... |
OMIM:614188 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Abnormal cerebrospinal fluid morphology, Dacryocystiti... |
ORPHA:797 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Addison Disease |
|
Celiac disease, Failure to thrive, Generalized bone demineralization, Weight loss |
ORPHA:85138 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Isolated Biliary Atresia |
|
Small for gestational age, Xanthelasma, Acholic stools, Fat malabsorption, Severe failure to thri... |
ORPHA:30391 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Irritability, Hyperintensity of cerebral white matter on MRI, Abn... |
ORPHA:1675 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Weight loss, Abnorm... |
ORPHA:79078 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreased body we... |
ORPHA:2298 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Abetalipoproteinemia |
|
Fat malabsorption, Ataxia |
OMIM:200100 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Xerostomia, Weight loss, ... |
ORPHA:85443 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate, Hemiplegia, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Stevens-Johnson Syndrome |
|
Entropion, Conjunctivitis, Weight loss |
ORPHA:36426 |
Charge Syndrome |
|
Mixed hearing impairment, Microcephaly, Aplasia of the semicircular canal, Postnatal growth retar... |
OMIM:214800 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Malt Lymphoma |
|
Abnormal nasolacrimal system morphology, Weight loss |
ORPHA:52417 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive |
OMIM:214950 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Wide anterior fontanel, Weight loss |
OMIM:613673 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Retinal hamartoma, Myelopathy, Hydrocephalus, Unsteady gait, Hemipar... |
ORPHA:637 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Familial Thrombocytosis |
|
Vertigo, Weight loss |
ORPHA:71493 |
Whim Syndrome |
|
Poor fine motor coordination, Abnormal small intestine morphology, Limb ataxia, Parotitis |
ORPHA:51636 |
Tuberous Sclerosis Complex |
|
Cortical dysplasia, Noncommunicating hydrocephalus, Depression, Attention deficit hyperactivity d... |
ORPHA:805 |
Pulmonary Alveolar Microlithiasis |
|
Clubbing of fingers, Stippled calcification in carpal bones, Weight loss |
ORPHA:60025 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
Caroli Disease |
|
Conjunctival icterus, Weight loss |
ORPHA:53035 |
Vipoma |
|
Elevated circulating growth hormone concentration, Malabsorption, Increased circulating gonadotro... |
ORPHA:97282 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... |
ORPHA:97283 |
Amoebiasis Due To Entamoeba Histolytica |
|
Gastrointestinal dysmotility, Intestinal obstruction, Acute colitis, Weight loss |
ORPHA:67 |
Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... |
ORPHA:97278 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Acute Adrenal Insufficiency |
|
Vertigo, Failure to thrive, Delayed puberty, Weight loss |
ORPHA:95409 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... |
ORPHA:97280 |
Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... |
ORPHA:97261 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia, Cerebral atrophy |
OMIM:616084 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Hermansky-Pudlak Syndrome |
|
Long eyelashes, Weight loss |
ORPHA:79430 |
Dermatomyositis |
|
Abnormal eyelid morphology, Gastrointestinal stroma tumor, Weight loss, Arthritis, Chondrocalcinosis |
ORPHA:221 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, My... |
OMIM:253280 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Dystonia, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Babinski sign, L... |
OMIM:175780 |
Chronic Graft Versus Host Disease |
|
Esophageal stricture, Flexion contracture, Xerostomia, Weight loss, Arthritis, Keratoconjunctivit... |
ORPHA:99921 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Postinfectious Vasculitis |
|
Weight loss, Gastrointestinal inflammation, Arthritis, Unusual gastrointestinal infection, Ischem... |
ORPHA:48435 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Microcephaly, Abnormal jo... |
ORPHA:322 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Microsporidiosis |
|
Osteomyelitis, Cachexia, Weight loss, Keratoconjunctivitis, Glossitis |
ORPHA:2552 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
Q Fever |
|
Osteomyelitis, Weight loss |
ORPHA:781 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Hypoplastic pelvis, Cleft palate |
OMIM:273395 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Sensorineural hearing impairment, Otitis media, Weight loss |
ORPHA:900 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
Norrie Disease |
|
Clonus, Cachexia, Microcephaly, Hypertonia, Scoliosis, Failure to thrive, Cerebral cortical atrophy |
ORPHA:649 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Nocardiosis |
|
Dacryocystitis, Conjunctivitis, Weight loss |
ORPHA:31204 |
Liver Disease, Severe Congenital |
|
Joint laxity, Chronic gastritis, Epicanthus, Poor fine motor coordination, Protein-losing enterop... |
OMIM:619991 |
Lymphangioleiomyomatosis |
|
Retinal hamartoma, Hydrocephalus, Gastrointestinal hemorrhage |
ORPHA:538 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Palpebral edema, Ataxia, Weight loss, Enlargement of p... |
ORPHA:50918 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hydrocephalus |
OMIM:261740 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Hypoplasminogenemia |
|
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation |
ORPHA:722 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Igg4-Related Kidney Disease |
|
Dacryocystitis, Sialadenitis, Abnormality of the anterior pituitary, Weight loss |
ORPHA:449395 |
Alström Syndrome |
|
Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Decreased response to growth hormone sti... |
ORPHA:64 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Failure to thrive, Premature fusion of the radial epiphyseal plates |
ORPHA:90794 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |