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Gene: Nfix MGI:97311

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Gene Summary

Name:
nuclear factor I/X
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Nfix mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Nfix by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Delayed closure of the anterior fontanelle, Microcephaly, Spina bifida occulta, Agenesis of corpu... OMIM:618736
Masa Syndrome
Lower limb spasticity, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, ... OMIM:303350
Mirror Movements 1
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
Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera... OMIM:616602
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Brachyolmia Type 1, Hobaek Type
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
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
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Dystonia, Ataxia, M... OMIM:616756
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Hereditary Sensory And Autonomic Neuropathy Type 2
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
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
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
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Mucolipidosis Type Iii
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
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
High, narrow palate, Cavum septum pellucidum, Dilated third ventricle, Agenesis of corpus callosu... ORPHA:464738
Lissencephaly 4
Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro... OMIM:614019
Osteochondrosis Of The Metatarsal Bone
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
Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern,... OMIM:619244
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
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
Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Cleft palate, Upslanted palp... ORPHA:1797
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneous finger syndactyly, Hi... OMIM:114300
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Hydrocephalus, Platyspondyly, Hi... OMIM:616294
Alexander Disease
Osteopenia, Cerebral calcification, Clonus, Short neck, Aqueductal stenosis, Tremor, Chorea, Abno... ORPHA:58
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Abnormal bone os... ORPHA:93315
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Epicanthus, Microcephaly, Lateral ventricle dilatati... ORPHA:79326
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Genu valgum... OMIM:252605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Joint stiffness, Flexion contracture, Diffic... OMIM:609308
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... ORPHA:488627
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Epicanthus, Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, ... ORPHA:557003
Odontochondrodysplasia 1
Biconvex vertebral bodies, Short metacarpal, Genu recurvatum, Brachydactyly, Metaphyseal widening... OMIM:184260
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Conductive hearing impairment, Agenesi... ORPHA:85179
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Three M Syndrome 1
Joint dislocation, Thick eyebrow, Small for gestational age, Hyperlordosis, Short neck, Increased... OMIM:273750
Braddock-Carey Syndrome 1
Telecanthus, Hyperlordosis, Microcephaly, Small hand, Spastic diplegia, Cleft palate, Anteriorly ... OMIM:619980
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Low-set ears, Intrauterine growth retardation, Agenesis of corpus callosum, Ventric... OMIM:616570
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Mosaic Trisomy 1
Thoracic scoliosis, Finger clinodactyly, Congenital bilateral ptosis, Absent distal interphalange... ORPHA:1692
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophrys, Absent di... OMIM:618658
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Inability to walk, Parapa... ORPHA:2822
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, S... ORPHA:208447
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocephaly, Agenes... OMIM:619955
Bethlem Myopathy 2
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Epicanthus, Arachnodactyly, Ataxia, Hyperlordosis, Almond-shaped palpebral fissure,... OMIM:300986
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Telecanthus, Broad hallux, Deviation of the hallux, Hamartoma of tongue... ORPHA:434179
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... OMIM:618395
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Small for gestational age, Cerebral palsy, Highly arched eyebrow, Micr... OMIM:615834
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Metaphyseal widening, Knee dislocation, High palate, Gastroesophageal reflux, Clinoda... OMIM:620083
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... OMIM:602557
Tenorio Syndrome
Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Cerebral palsy, Delayed cranial suture clos... OMIM:616260
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... ORPHA:93346
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Epicanthus, Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Macro... OMIM:616900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Microcephaly, Hyperlordosis, Limitation of joint mobility, Tracheoesop... ORPHA:3068
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Epicanthus, Hyperlordosis, Abnormal form of the vertebral bodies... ORPHA:2831
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Hearing impairment ORPHA:401830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Elbow flexion contra... OMIM:619470
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Upslanted palpebral fissure, Hypoplasia of the frontal lobes, Abnormal ... ORPHA:2512
Diastrophic Dysplasia
Joint dislocation, Cerebral calcification, Proximal placement of thumb, Abnormal form of the vert... ORPHA:628
Anauxetic Dysplasia 1
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
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... ORPHA:206546
Mulchandani-Bhoj-Conlin Syndrome
Epicanthus, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly, Failure to thrive OMIM:617352
Arthrogryposis, Distal, Type 5D
Ptosis, Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited k... OMIM:615065
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... OMIM:614727
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Short neck, Sparse eyebrow, Kyphosis, High, narrow palate, La... OMIM:619745
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Trigonocephaly 1
Epicanthus, Craniosynostosis, Microcephaly, High, narrow palate, Synophrys, Upslanted palpebral f... OMIM:190440
Hao-Fountain Syndrome
Hallux valgus, Speech apraxia, Large fontanelles, Apraxia, Clinodactyly of the 5th finger, Delaye... OMIM:616863
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Limitation of joint mobility, Hypertonia, Gait disturbance, Cerebral corti... ORPHA:1192
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Decreased response to growth hormone ... OMIM:216550
Chst3-Related Skeletal Dysplasia
Waddling gait, Short metacarpal, Enlarged joints, Kyphoscoliosis, Highly arched eyebrow, Sparse e... ORPHA:263463
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Microcephaly, Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal hip bone mo... ORPHA:2522
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Ptosis OMIM:255200
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... ORPHA:101071
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Ptosis, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar sco... OMIM:616723
Nail-Patella Syndrome
Back pain, Impaired temperature sensation, Abnormal tibia morphology, Flexion contracture, Abnorm... ORPHA:2614
Huntington Disease-Like 2
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
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Short neck, Microcephaly, Kyphosis, Abnormality of the hu... ORPHA:3098
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... ORPHA:296
Typical Nemaline Myopathy
Waddling gait, Ptosis, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture,... ORPHA:171436
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Pro... OMIM:620001
Craniometadiaphyseal Dysplasia, Wormian Bone Type
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
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
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
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
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Synophrys... ORPHA:505652
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, H... OMIM:613849
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
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
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Hyperlordosis, Short neck, Kyphos... ORPHA:2789
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Christianson Syndrome
Thick eyebrow, Dystonia, Cachexia, Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of the corpus... ORPHA:85278
Baralle-Macken Syndrome
Tapered finger, Microcephaly, Kyphosis, High, narrow palate, Inability to walk, Obesity, Upslante... OMIM:619255
Congenital Myasthenic Syndromes With Glycosylation Defect
Joint laxity, Waddling gait, Lumbar hyperlordosis, Flexion contracture, Knee flexion contracture,... ORPHA:353327
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility OMIM:618323
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Ptosis, Epicanthus, Craniosyno... ORPHA:794
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Pachydermoperiostosis
Gastrointestinal hemorrhage, Ptosis, Osteomyelitis, Cerebral palsy, Peptic ulcer, Elevated circul... ORPHA:2796
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Dysplastic corpus callosum, Synophrys, V... OMIM:616854
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... ORPHA:2848
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... ORPHA:175
Pelvis-Shoulder Dysplasia
Waddling gait, Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal pha... ORPHA:2839
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Ep... ORPHA:1914
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, Weight loss, Gait ata... ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Epicanthus, Tremor, Dysplastic corpus callosum, Hypoesthesia, Obesi... OMIM:619737
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Opisthotonus, Hypertonia, Narrow greater ... ORPHA:508533
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Epicanthus, Recurrent fractures, Bowing of the legs... OMIM:277440
3M Syndrome
Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Rocker bottom foot, Hyperlordo... ORPHA:2616
Osteopetrosis, Autosomal Recessive 1
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
Short corpus callosum, Lateral ventricle dilatation, Ptosis OMIM:619972
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Hearing impairment, Highly arched eyebrow, Cupped ear, Protruding ear, Colpoc... OMIM:618619
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Choreoathetosis, Scoliosis, Dystonia... OMIM:618238
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Pla... OMIM:300863
Baraitser-Winter Syndrome 2
Ptosis, Telecanthus, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Lissencepha... OMIM:614583
Infantile Sialic Acid Storage Disease
Osteopenia, Epicanthus, Hydrocephalus, Cerebral atrophy, High palate, Failure to thrive, Metaphys... OMIM:269920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Falls, Gait disturbance, Slender build, Ptosis OMIM:615156
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion ... ORPHA:75840
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... ORPHA:2078
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Periventricular wh... OMIM:619719
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis ORPHA:71267
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr... ORPHA:2703
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Diffuse white matter abnormalities, Gait ... ORPHA:457359
Myopathy, Distal, 1
Lumbar hyperlordosis, Tip-toe gait, Gait disturbance, High palate, Scoliosis OMIM:160500
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Colpocephaly, Pachygyria OMIM:614870
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Probst bundles, Sandal gap, Hooded eyelid, Sparse eyelashes, High,... OMIM:612863
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Reduced cerebral white matter volume, Short neck, Synophrys, Irregular vertebral endplates, Poste... OMIM:610442
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Epicanthus, Telecanthus, Overlapping toe, Delayed cranial suture closure, Thick eyebrow, Inabilit... OMIM:619383
Digeorge Syndrome
Pilonidal sinus, Microcephaly, High, narrow palate, Obesity, Cleft palate, Hemiparesis, High pala... OMIM:188400
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Ptosis ORPHA:1875
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Growth delay, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Sp... ORPHA:77299
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Short neck, Wide distal femoral metaphysis, Del... OMIM:613320
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Delayed closure of the anterior fontanelle, Abnormal limb bone morphology, Epiphyseal sti... ORPHA:251009
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Rocker bottom foot, Kypho... OMIM:214150
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Babinski sign, Sp... OMIM:619847
Atypical Rett Syndrome
Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Small hand, ... ORPHA:3095
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Lacrimal duct stenosis, Palpebral edema, Ataxia, Hyperlordosis, Dermatochalasis, Clin... ORPHA:221139
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of... OMIM:613795
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Houge-Janssens Syndrome 1
Congenital hip dislocation, Pyloric stenosis, Hydrocephalus, Gait ataxia, Scoliosis, Downslanted ... OMIM:616355
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Microcephaly, Hypoplasia of the odontoid process, Small hand, C... ORPHA:85172
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Recurrent fractures, ... ORPHA:2050
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Shashi-Pena Syndrome
Short metacarpal, Epicanthus, Highly arched eyebrow, Reduced cerebral white matter volume, Kyphos... OMIM:617190
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High... OMIM:304100
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture... ORPHA:98863
Temple Syndrome
Small for gestational age, Overweight, Hydrocephalus, Flexion contracture, Small hand, Obesity, C... OMIM:616222
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Proximal placement of thumb, Alobar holoprosencephaly, Kyphosis, Agenesis of corpus c... OMIM:615433
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared... OMIM:602111
Osteogenesis Imperfecta, Type Xviii
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
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Osteoporosis, Abnormal cerebral white matter morphology,... ORPHA:2169
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cerebral calcification, Hydrocephalus,... ORPHA:377
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Scoliosis, Downslanted palpebral fissures ORPHA:276630
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Oculomotor apraxia, Limitation of joint mobility, Congenital foot contractures, Scolios... ORPHA:3454
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Flynn-Aird Syndrome
Cerebral calcification, Ataxia, Cachexia, Joint stiffness, Impaired pain sensation, Kyphosis, Bon... ORPHA:2047
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, High, narrow palate, Split hand, Unsteady gait, Obesit... OMIM:618124
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa vara, Femor... OMIM:608940
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... ORPHA:2658
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Distal s... OMIM:181405
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... ORPHA:166277
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Epicanthus, Anal stenosis, Ataxia, Microcephaly, Blepharophimosis, Dyspla... ORPHA:314679
Opitz-Kaveggia Syndrome
Multiple joint contractures, Short neck, Partial agenesis of the corpus callosum, Anteriorly plac... OMIM:305450
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of... ORPHA:77258
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed... OMIM:610968
Craniotelencephalic Dysplasia
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
Epicanthus, Congenital hip dislocation, Lumbar hyperlordosis, Toe syndactyly, Craniosynostosis, S... OMIM:609625
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
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
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
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Irregular iliac crest, ... OMIM:250420
Myopathy, Centronuclear, 1
Ptosis, Flexion contracture, Hyperlordosis OMIM:160150
Neu-Laxova Syndrome
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
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Sparse eyelashes, Agang... OMIM:250250
Anauxetic Dysplasia 3
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
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
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nfix

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nfix.

No publications found that use IMPC mice or data for Nfix.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nfixtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nfixem7(IMPC)H Exon Deletion Mice
Nfixem5(IMPC)H Indel Mice
Nfixem1H Indel Mice
Nfixem2H Indel Mice
Nfixem4(IMPC)H Indel Mice
Nfixem6(IMPC)H Exon Deletion Mice
Nfixtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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