Gene Summary

MDS1 and EVI1 complex locus
D630039M04Rik,  Jbo,  MDS1-EVI1,  Prdm3,  Mds1,  ZNFPR1B1,  Evi-1,  Evi1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number MecomJbo HET Early adult 7.77×10-06
decreased lean body mass MecomJbo HET Early adult 1.77×10-05
increased circulating amylase level MecomJbo HET Early adult 1.47×10-06
abnormal locomotor activation MecomJbo HET Early adult 1.00×10-05
decreased prepulse inhibition MecomJbo HET Early adult 1.85×10-07
limb grasping MecomJbo HET Early adult 3.97×10-05
increased total body fat amount MecomJbo HET Early adult 1.28×10-14
increased bone mineral content MecomJbo HET Early adult 6.88×10-07
abnormal startle reflex MecomJbo HET Early adult 3.60×10-07
decreased hemoglobin content MecomJbo HET Early adult 1.61×10-12
increased blood urea nitrogen level MecomJbo HET Early adult 1.69×10-05
thrombocytopenia Mecomem1(IMPC)J HET Early adult 8.56×10-10
increased lean body mass MecomJbo HET Early adult 5.49×10-10
increased startle reflex MecomJbo HET Early adult 4.55×10-15
preweaning lethality, complete penetrance Mecomem1(IMPC)J HOM   Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Skull Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Forepaw

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Mecom 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 associated to Mecom by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738

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

Disease Similarity of
Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Gombo Syndrome
Clinodactyly, Abnormal heart morphology, Radial deviation of finger, Brachydactyly OMIM:233270
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Polydactyly, Abnormal c... ORPHA:294975
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Metaphyseal Chondrodysplasia, Spahr Type
Hyperlordosis, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Dispropo... ORPHA:2501
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr... OMIM:606631
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Malar flattening, Failur... OMIM:614727
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... OMIM:144750
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ... ORPHA:3319
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... OMIM:618363
Isolated Glycerol Kinase Deficiency
Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis ORPHA:408
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dis... ORPHA:96183
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Mucolipidosis Type Iii
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... ORPHA:577
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Short stature, Spondylol... OMIM:600561
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Type 1 coll... OMIM:610915
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... OMIM:271630
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Ck Syndrome
Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, High palate, Scoliosis, Mal... OMIM:300831
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... OMIM:215100
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... ORPHA:324964
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Paraspinal muscle hypertr... OMIM:602484
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... ORPHA:40
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Splenomegaly, ... ORPHA:61
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... OMIM:136300
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon... OMIM:616583
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Open mouth, Spinal canal stenosis, Calvarial h... OMIM:176920
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Facial pal... OMIM:255600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Nemaline Myopathy 7
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee... OMIM:610687
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor... OMIM:271530
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Dental crowding, Kyphoscoliosis, Thick lower lip vermilion, Everted lo... OMIM:300844
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... OMIM:620389
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, H... ORPHA:2485
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Delayed eruption of teeth, Short stature, Camptodactyly of finger, Kyph... OMIM:612350
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Mcdonough Syndrome
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism... ORPHA:2471
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... ORPHA:85198
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis, Micrognathia, Cryptorchidism, Osteoporosis, Thin vermilion border,... OMIM:600118
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky... OMIM:613330
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility ORPHA:300179
Sillence Syndrome
Back pain, Slender build, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal... ORPHA:3168
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Genu v... OMIM:609223
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle... OMIM:619042
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture, Lower... OMIM:611225
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Leukodystrophy, Hypomyelinating, 17
Mandibular prognathia, Kyphoscoliosis, Flexion contracture, Gingival overgrowth, Growth delay, Wi... OMIM:618006
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Short stature, Kyphoscoliosis, High, narrow palate, Hypermobility of inter... ORPHA:3433
Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene... ORPHA:750
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed skeleta... ORPHA:168621
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, High ... OMIM:618524
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Stillbirth OMIM:265880
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Richieri Costa-Da Silva Syndrome
Joint dislocation, Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short n... ORPHA:3101
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis,... ORPHA:970
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... ORPHA:391646
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Severe short stature, Kyphoscoliosis, Abnormal enchondra... OMIM:156530
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... ORPHA:1159
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... OMIM:616668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Winchester Syndrome
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... OMIM:277950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Kyphoscoliosis, Microgna... OMIM:214150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Camurati-Engelmann Disease
Skeletal muscle atrophy, Craniofacial osteosclerosis, Bone pain, Leukopenia, Cortical thickening ... ORPHA:1328
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build ORPHA:352470
Ck Syndrome
Microretrognathia, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, High palate, Malar flat... ORPHA:251383
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis ORPHA:93304
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Familial Anetoderma
Irregular dentition, Generalized joint laxity, Lumbar hyperlordosis, High, narrow palate ORPHA:228277
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Anauxetic Dysplasia 2
Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P... OMIM:617396
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Abnormal form of the vertebral... ORPHA:73230
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Micrognathia,... OMIM:255800
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M... ORPHA:2332
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... OMIM:611067
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Retrognathia, High palate, Ty... OMIM:161800
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally nucleated skeletal mus... OMIM:619542
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Narrow mouth, Whistling a... OMIM:277720
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... OMIM:618392
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis OMIM:617404
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... OMIM:619719
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi... ORPHA:93315
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... ORPHA:157973
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... OMIM:611209
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... ORPHA:62
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... OMIM:208230
Ichthyosis--Cheek--Eyebrow Syndrome
High palate, Kyphoscoliosis OMIM:146720
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph... OMIM:614856
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Hall-Riggs Syndrome
Kyphosis, Delayed skeletal maturation, Hypoplasia of the primary teeth, Osteoporosis, Thick lower... OMIM:234250
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... OMIM:610968
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... ORPHA:496689
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Increased circulati... ORPHA:1858
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly... OMIM:612847
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Scapular winging, Ivory epiphyses of the distal phalanges ... OMIM:190350
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature, High palate, Cubit... OMIM:610313
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... ORPHA:1296
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Azoospermia, Infer... ORPHA:1445
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Premature... ORPHA:2959
Thrombocythemia 2
Thrombocytosis OMIM:601977
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Incr... ORPHA:79474
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly, Obesity OMIM:615988
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contr... ORPHA:75496
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... ORPHA:90650
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami OMIM:141300
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion OMIM:155050
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... OMIM:305620
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Generalized joint laxity, Abnormal c... ORPHA:93360
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly OMIM:618011
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Kyphoscoliosis, Dental malocclusion OMIM:615541
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Brachydactyly, Abnormal mitral valve morphology, Mesomelia ORPHA:1277
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity, Polydactyly, Hypogonadism, Recurrent otitis media, Hearing impairment OMIM:615993
Three M Syndrome 1
Joint dislocation, Mandibular prognathia, Scapular winging, Small for gestational age, Short stat... OMIM:273750
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... OMIM:101800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Scoliosis OMIM:616756
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... ORPHA:329178
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Pseudodiastrophic Dysplasia
Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, ... OMIM:264180
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosynostosis, Thic... OMIM:619451
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor... ORPHA:101028
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Ky... OMIM:612079
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... ORPHA:3426
Loeys-Dietz Syndrome 6
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... ORPHA:295
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... OMIM:604381
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Kyphoscoliosis OMIM:617977
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Short statur... OMIM:615583
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace... OMIM:617405
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Reduced b... ORPHA:2617
Mucopolysaccharidosis Type 4
Joint dislocation, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, K... ORPHA:582
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col... ORPHA:485
Desbuquois Dysplasia 1
Joint dislocation, Short neck, Osteoarthritis, Genu varum, Joint laxity, Microretrognathia, Hyper... OMIM:251450
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Stillbirth, Aortic ... OMIM:615415
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Severe short stature, ... OMIM:313420
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal... ORPHA:2522
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... OMIM:253000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ... OMIM:616817
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Scapular winging, Sacral dimple, Short stature, Camptodactyly of finger, O... ORPHA:1327
Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ... ORPHA:429
Tetrasomy X
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly ORPHA:9
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis, Atrial s... ORPHA:3304
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,... OMIM:114300
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Distal joint laxit... OMIM:617258
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Short stature, Tarsal synostosis, Multiple pterygia, Short nec... OMIM:178110
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Short stature, Abnormal... ORPHA:2916
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... OMIM:160500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased suscept... ORPHA:52430
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Micr... ORPHA:48431
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... OMIM:185700
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nuclea... OMIM:617760
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Micrognathia, Cryptorchidism, Furrow... ORPHA:1387
Arthrogryposis, Distal, Type 2A
Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Distal amyot... ORPHA:3115
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Kyphoscoliosis, Cervical spondylosis, Localized osteoporosis, Lower limb pain ORPHA:199354
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Short stature, Kyphoscoliosis OMIM:600384
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... OMIM:609052
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Genu valgu... OMIM:184250
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis OMIM:605588
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Anemia ORPHA:1192
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thin upper ... ORPHA:3041
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... OMIM:113000
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Forsythe-Wakeling Syndrome
Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased body weight, Th... OMIM:613606
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ... OMIM:609308
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Small for gestational age, Dental crowding, Micrognathia, D... OMIM:610883
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Decreased muscle mass, Short stature, Dental crowding, Short n... OMIM:130720
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis OMIM:619099
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Abnormal dent... ORPHA:1798
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi... ORPHA:377
Aarskog-Scott Syndrome
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, H... ORPHA:915
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Short stature, Micrognathi... OMIM:610758
Wild Type Abeta2M Amyloidosis
Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon... ORPHA:85446
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... ORPHA:3079
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Seckel Syndrome 1
Pancytopenia, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathi... OMIM:210600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, P... ORPHA:93352
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Facial palsy, Recurrent fractures, Splenomegaly,... OMIM:611490
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Monosomy 5P
Microretrognathia, Short stature, Recurrent fractures, Short neck, Joint hyperflexibility, High p... ORPHA:281
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:101081
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su... OMIM:618624
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ... OMIM:616471
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... ORPHA:1802
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Facial palsy, ... ORPHA:3068
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... OMIM:242900
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... OMIM:259600
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow,... ORPHA:263463
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... ORPHA:206546
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Facial palsy, Hy... ORPHA:2780
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormalit... ORPHA:2345
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl... OMIM:608940
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Short stature ORPHA:2786
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... OMIM:603034
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Thoracic kyphosis, Neutropenia, Decreased circulating IgG leve... OMIM:271510
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... ORPHA:477817
Central Core Disease
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Myopathy, ... ORPHA:597
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia, Edema OMIM:189800
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl... OMIM:613156
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, C... ORPHA:93314
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Hyperlordosis, Microcy... OMIM:600462
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Delayed s... ORPHA:3085
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Sacral dimple, Short stature, Dental crowding, Kyphoscoliosis, Microgna... OMIM:616331
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hypoplasia, Irregular pat... OMIM:609325
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho... OMIM:612921
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Retrognathia, High palate, Neutropeni... OMIM:618005
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... OMIM:618323
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexi... OMIM:616549
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Growth delay, ... OMIM:244600
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Lumbar hyperlordosis OMIM:617054
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Long upper lip, Hip dislocation, Advance... OMIM:615349
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho... ORPHA:251028
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... OMIM:122600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Dental crowding, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scolios... OMIM:236200
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Osteoporosis, Hip dislocation, Cleft pal... ORPHA:447980
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Short stature, Accelerated skeletal maturation, Prem... OMIM:165800
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morpholo... ORPHA:2710
2q37 monosomy
Brachydactyly DECIPHER:44
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis OMIM:612913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the dentition, Thi... ORPHA:391307
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb OMIM:614257
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... OMIM:193530
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Smooth phi... OMIM:309583
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Short stature, Congenital bilateral hip dislocation ORPHA:85288
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis OMIM:301107
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Abnormal macrophage morpho... ORPHA:353
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Micrognathia,... OMIM:121050
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglossia, High pala... OMIM:616354
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,... ORPHA:562
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis, Widely-spaced incisors OMIM:300915
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle... ORPHA:35173
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Acrocapitofemoral Dysplasia
Short stature, Ovoid vertebral bodies, Hyperlordosis, Delayed skeletal maturation, Scoliosis, Gen... ORPHA:63446
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Thin upper lip vermilion, Small for gestational age, Kyphoscoliosis, Short neck, Pr... ORPHA:391408
Foxg1 Syndrome
Short stature, Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight ORPHA:561854
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mucopolysaccharidosis, Type Ivb
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... OMIM:253010
Cooks Syndrome
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly ORPHA:1487
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Failure to thrive, Increased bone mineral ... OMIM:259700
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Enlarged joints, Short stature, Disproportionate short-limb short stature, ... ORPHA:156728
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Carpenter Syndrome
Craniosynostosis, Kyphoscoliosis, Cryptorchidism, Obesity, Genu valgum, Polysplenia ORPHA:65759
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited elbow movement,... OMIM:300280
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... OMIM:615761
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Limb joint contracture, Centrally... OMIM:255310
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morphology, Abnorm... ORPHA:2370
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Harrod Syndrome
Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na... ORPHA:2115
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Small for gestational age, Short stat... OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Hip disl... OMIM:616507
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Genu recurvatum, Acute rhabdomyoly... OMIM:604168
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... ORPHA:94068
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... OMIM:617022
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Micrognathia, High palate, Wrist flexion contracture, Long p... ORPHA:800
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Wieacker-Wolff Syndrome
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... OMIM:314580
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Short stature, Dental crowding, Delayed skeletal maturation... OMIM:617877
Sclerosteosis 1
Mandibular prognathia, Facial palsy, Sclerotic scapulae, Irregular menstruation, Dental malocclus... OMIM:269500
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Everted lower lip v...