Gene Summary

Name:
fibrillin 2
Synonyms:
Fib-2,  Sne,  sy

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placement of pupils Fbn2em1(IMPC)Rbrc HOM   Early adult 5.77×10-05
abnormal brain morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
increased circulating alkaline phosphatase level Fbn2em1(IMPC)Rbrc HOM Early adult 2.14×10-10
abnormal heart weight Fbn2em1(IMPC)Rbrc HOM Late adult 2.54×10-07
abnormal retina blood vessel morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 3.42×10-06
abnormal digit morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 1.23×10-21
corneal opacity Fbn2em1(IMPC)Rbrc HOM Early adult 3.49×10-11
abnormal mandible morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal kidney morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal ulna morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
increased bone mineral content Fbn2em1(IMPC)Rbrc HOM Early adult 4.19×10-06
abnormal femur morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
enlarged heart Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
decreased circulating amylase level Fbn2em1(IMPC)Rbrc HOM   Early adult 1.93×10-05
abnormal tibia morphology Fbn2em1(IMPC)Rbrc HOM Early adult 7.10×10-11
decreased anxiety-related response Fbn2em1(IMPC)Rbrc HOM   Early adult 6.17×10-05
abnormal optic disk morphology Fbn2em1(IMPC)Rbrc HOM Early adult 1.01×10-06
abnormal brain morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal pelvic girdle bone morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.67×10-06
abnormal tail morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 2.10×10-06
syndactyly Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal heart morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal liver morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal skin morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.41×10-06
abnormal kidney morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal eye morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal liver morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal heart morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal nail morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.48×10-15
abnormal humerus morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal rib morphology Fbn2em1(IMPC)Rbrc HOM Early adult 8.97×10-08
abnormal fibula morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal joint morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 8.78×10-07
abnormal vertebral arch morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal clavicle morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
prolonged ST segment Fbn2em1(IMPC)Rbrc HOM   Early adult 1.65×10-05
abnormal gait Fbn2em1(IMPC)Rbrc HOM Early adult 3.41×10-06
vertebral fusion Fbn2em1(IMPC)Rbrc HOM   Early adult 5.23×10-06
enlarged heart Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal radius morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.18×10-10
abnormal zygomatic bone morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal autopod morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.54×10-15
abnormal cranium morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.18×10-10
abnormal bone structure Fbn2em1(IMPC)Rbrc HOM Early adult 1.81×10-06
decreased body length Fbn2em1(IMPC)Rbrc HOM Early adult 3.79×10-13
decreased grip strength Fbn2em1(IMPC)Rbrc HOM Early adult 3.58×10-31
corneal vascularization Fbn2em1(IMPC)Rbrc HOM Early adult 4.32×10-06
thrombocytopenia Fbn2em1(IMPC)Rbrc HOM Early adult 6.13×10-06

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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.

Gross Pathology and Tissue Collection

Images

85 Images

Eye Morphology

Images Slit Lamp

20 Images

X-ray

XRay Images Forepaw

28 Images

Gross Pathology and Tissue Collection

Images

72 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Combined SHIRPA and Dysmorphology

Images

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

Human diseases caused by Fbn2 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 Fbn2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fbn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... OMIM:301075
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Vacuolar Neuromyopathy
Distal muscle weakness, Rimmed vacuoles, Muscular dystrophy, Foot dorsiflexor weakness, Neck flex... OMIM:601846
Myopathy, Myosin Storage, Autosomal Dominant
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Calf mus... OMIM:608358
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Facial palsy, Increased variability ... OMIM:616852
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovo... ORPHA:85167
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Li... ORPHA:602
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Ethanolaminosis
Cardiomegaly OMIM:227150
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... OMIM:613530
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Gowers sign, Talipes equinovarus, Flexion contr... OMIM:255200
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Increased endomysial connective tissue, Flexion contracture of finger, Talipes equin... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased ... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... OMIM:605820
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Distal muscle weakness, Increased variability in muscle fiber dia... OMIM:619042
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... OMIM:609115
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Poor head control, Flexion contracture, Short stature, Mu... OMIM:602771
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity, Clinodactyly of the 5th finger, Reduced bone... ORPHA:2370
Winchester Syndrome
Broad metacarpals, Kyphosis, Hirsutism, Corneal opacity, Generalized osteoporosis, Carpal osteoly... OMIM:277950
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Type 1 mus... ORPHA:178145
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flex... ORPHA:457050
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital hip dislocation, Pr... OMIM:255310
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Distal Monosomy 6P
Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Atrial septal def... ORPHA:96125
Summitt Syndrome
Syndactyly OMIM:272350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Pectus carinatum, Radioulnar synostosis... ORPHA:3268
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Beevor's sign, EMG: myopathic abnor... ORPHA:437572
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... ORPHA:603
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Increased variability in muscle fiber diameter, Proximal muscle weakness, Central... ORPHA:401768
Myopathy, Myosin Storage, Autosomal Recessive
Proximal muscle weakness, Short stature, EMG: myopathic abnormalities, Calf muscle hypertrophy, L... OMIM:255160
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Generalized muscle weakness, Facial palsy, Centrall... OMIM:611705
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... ORPHA:1350
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle f... OMIM:616209
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Ectopia ... OMIM:618727
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Talipes equinovarus, Left ventricular hypertrophy,... ORPHA:169186
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:486815
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Prenatal Bowing
Bowing of the long bones OMIM:264050
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... ORPHA:75840
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... OMIM:102510
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Reduced bone mi... ORPHA:577
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... ORPHA:485
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... OMIM:300696
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300717
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Muscle weakness, Centrally nucleated skeletal mu... OMIM:615422
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Muscle weakness, Proximal mu... OMIM:616471
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndactyly, Camptodactyly of finger, Syno... ORPHA:3250
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Hypoplastic sacrum, Hemiv... OMIM:113000
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Abnormal... ORPHA:294975
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Myopathy, Myofibrillar, 8
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Gowers sign, Joint contracture of th... OMIM:617258
Marinesco-Sjogren Syndrome
Coxa valga, Flexion contracture, Short stature, Rimmed vacuoles, Progressive muscle weakness, Cub... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal muscle weakness in lower... OMIM:619566
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Cuboidal me... ORPHA:968
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Proximal muscle weakness, Achilles tendon contracture, ... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Areflexia of upper limbs, First dorsal interossei muscle weakness,... OMIM:619574
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... ORPHA:399086
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... ORPHA:2741
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Corneal opacity, Inability to walk, Metatarsal osteolysis, Hypertens... OMIM:166300
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Mucopolysaccharidosis Type 4
Short neck, Platyspondyly, Pectus carinatum, Carious teeth, Genu valgum, Abnormal epiphysis morph... ORPHA:582
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Hepatomegaly, Micronodular cirrhosis, Congenital hip dislocation, Athetosis, O... ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Bowen-Conradi Syndrome
Micrognathia, Abnormal joint morphology, Clinodactyly of the 5th finger, Rocker bottom foot OMIM:211180
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Short thumb, Shor... OMIM:614326
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Hepatomegaly, Malar flattening, Elev... OMIM:614727
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Proxi... OMIM:609524
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Osteoporosis
Osteoporosis OMIM:166710
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Hydrops fetalis, Micromeli... ORPHA:85166
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, Upper limb u... ORPHA:93351
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal pelvic girdle bone morphology, White forelock, Coarse me... ORPHA:2779
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Self-injurious behavior, Mitral re... ORPHA:313892
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle weakness, Scapular wingin... OMIM:618129
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Short stature... ORPHA:598
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Alpha-Mannosidosis
Avascular necrosis, Dental malocclusion, Corneal opacity, Kyphosis, Hepatomegaly, Splenomegaly, S... ORPHA:61
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Wolf-Hirschhorn Syndrome
Craniofacial asymmetry, Radioulnar synostosis, Ventricular septal defect, Biliary tract abnormali... OMIM:194190
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... OMIM:612937
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... OMIM:618845
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... OMIM:605637
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Retinal dystrophy, Optic atrophy, Cataract, Fl... ORPHA:168549
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... ORPHA:596
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis, Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the ... ORPHA:1837
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... OMIM:215045
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... OMIM:160500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... OMIM:171480
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Short... OMIM:618961
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Finger syndactyly, Genu recurvatum, Small hand,... ORPHA:915
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... ORPHA:93307
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Horseshoe kidney, Patellar di... ORPHA:3320
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bod... ORPHA:2790
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... OMIM:259600
Metatropic Dysplasia
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... ORPHA:2635
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Ca... ORPHA:2501
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Hepatomegaly, Prominent sternum, Anterior beak... OMIM:253000
Distal Nebulin Myopathy
Nemaline bodies, Progressive proximal muscle weakness, Weakness of facial musculature, EMG: myopa... ORPHA:399103
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cata... ORPHA:166011
Muscular Dystrophy, Congenital, 1B
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Diaphragmatic weakness, Conge... OMIM:604801
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Exudative vitreoretinopathy, Corneal opacity, Loss of ambu... ORPHA:2788
Alagille Syndrome
Telangiectasia of the skin, Hepatomegaly, Abnormality of the ureter, Reduced number of intrahepat... ORPHA:52
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Harel-Yoon Syndrome
Corneal opacity, Ataxia, Inability to walk, Micrognathia, Scoliosis, Peripheral axonal neuropathy... OMIM:617183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... OMIM:618138
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Retrognathia, Micrognathia, Camptodactyly of finger... OMIM:249710
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... OMIM:167320
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Horseshoe... ORPHA:959
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Abnormal thorax morphol... ORPHA:1445
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... OMIM:263540
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Short neck, Carious teeth, Ventricular septal defect, Optic at... ORPHA:567
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... OMIM:609285
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal form o... ORPHA:1802
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... OMIM:617760
Kbg Syndrome
Delayed skeletal maturation, Thick eyebrow, Cutaneous syndactyly, Short neck, Abnormal hair patte... ORPHA:2332
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Corneal neovascularization, Short neck, Limbal stem cell deficiency, ... OMIM:615225
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Micrognathia, Edema, Rocker bottom foot, Low-set ears OMIM:616570
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Ventricular ... ORPHA:93267
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Jeune Syndrome
Narrow chest, Abnormality of retinal pigmentation, Abnormal clavicle morphology, Abnormal sternum... ORPHA:474
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Camurati-Engelmann Disease
Abnormality of femur morphology, Ataxia, Hepatomegaly, Abnormality of the humerus, Delayed erupti... ORPHA:1328
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe, Inability to walk OMIM:618572
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:603511
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... OMIM:614814
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Abn... ORPHA:1801
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Difficulty walking, Prem... ORPHA:93314
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Spondylolisthesis, Short neck, Genu... OMIM:607016
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Ureteral obstruction, Cataract, Bowing of the long bones, Elb... ORPHA:90652
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... ORPHA:98905
Diastrophic Dysplasia
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... ORPHA:628
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Retinal degeneration, Rod-cone dystrophy, Narrow greater sciatic notch, ... OMIM:602271
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Progressive muscle we... OMIM:619518
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Inappropriate crying, Camptodactyly of finger, Optic atrophy, Jaw swelling, Flexion contracture o... OMIM:619323
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Palmar pits, Brachydactyly, Scoliosis, Carious t... ORPHA:377
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Scapuloperoneal Spinal Muscular Atrophy
Scapular muscle atrophy, Torticollis, Amyoplasia, Peroneal muscle weakness, Talipes equinovarus, ... OMIM:181405
Verheij Syndrome
Abnormal cardiac septum morphology, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Renal... OMIM:615583
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Short stature, Narr... OMIM:602484
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Accelerated skele... ORPHA:1354
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Rocker bottom foot, Double outlet righ... OMIM:301056
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, R... ORPHA:2911
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Hypospadias, Ectopia pupillae, Microcornea, 3-4 finger syndactyly, Rhizomelia... OMIM:615877
King-Denborough Syndrome
Muscle fiber atrophy, Short stature, Weakness of facial musculature, Minicore myopathy, Type 1 mu... OMIM:619542
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... OMIM:305620
Ectrodactyly-Polydactyly
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, Talipes equinovarus, EMG: myopa... OMIM:614399
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposi... OMIM:254130
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... OMIM:252605
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... ORPHA:171442
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... OMIM:616052
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Hepatomegaly, Prominent sternum, Platyspondyly... OMIM:253010
Gordon Syndrome
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Decreased muscle mass, Fi... ORPHA:376
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly ORPHA:391646
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... OMIM:616228
Lamb-Shaffer Syndrome
Overlapping toe, Long hallux, Vertebral clefting, Anxiety, Scoliosis, Long fingers, Pectus carina... OMIM:616803
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Juberg-Hayward Syndrome
Abnormality of toe, Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia o... OMIM:216100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy,... ORPHA:353
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Corneal neovas... OMIM:617388
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Cataract, Block vertebrae, Delayed skeletal maturation, Vertebral s... OMIM:272460
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Corneal opacity, Micrognathia, Optic nerve hypoplasia, Scoliosis, Peripheral axonal... ORPHA:496790
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... OMIM:105835
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... ORPHA:249
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... OMIM:618889
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Short stature, Type 1 fibers relatively smaller... OMIM:300580
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Bethlem Myopathy
Multiple joint contractures, Scapular winging, Quadriceps muscle weakness, Achilles tendon contra... ORPHA:610
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Flexion contracture... OMIM:253290
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Muscle weakness,... OMIM:617072
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Gm1 Gangliosidosis
Ataxia, Platyspondyly, Ventricular septal defect, Optic atrophy, Abnormal epiphysis morphology, U... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Carious teeth, Genu... OMIM:253200
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Ulnar claw, Flexion contracture, Distal muscle weakness, Foot dorsiflexor weakne... OMIM:607684
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmop... ORPHA:270
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Platyspondyly, Rhizomelia, Severe platyspondyly, Ovoid vertebral bodies, Metaphys... OMIM:608940
Ventriculomegaly And Arthrogryposis
Micrognathia, Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist OMIM:619501
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... ORPHA:66637
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Pectus ... OMIM:253220
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... ORPHA:950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, Short stature, 3-4 ... ORPHA:370010
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Megalocornea, ... ORPHA:536471
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal epiphysis morphology, Mucopolysacchariduria, Abnormal metaphysis morpholo... ORPHA:579
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Microcornea, Ventricular sept... OMIM:201000
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... ORPHA:290
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
2Q31.1 Microdeletion Syndrome
Short neck, Optic disc coloboma, Tapered finger, Ventricular septal defect, Abnormality of fibula... ORPHA:251014
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Flexion contracture, Microgna... OMIM:312150
Craniodiaphyseal Dysplasia
Optic atrophy, Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Seckel Syndrome 7
Microtia, Primary amenorrhea, Clinodactyly, Madelung deformity, Hip dysplasia, Abnormal carpal mo... OMIM:614851
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Arthrogryposis, Distal, Type 2E
Talipes equinovarus, Joint contracture of the hand, Micrognathia, Absent antihelix, Trismus OMIM:121070
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... ORPHA:353327
Pelvis-Shoulder Dysplasia
Facial hirsutism, Microcornea, Absent proximal finger flexion creases, Talipes equinovarus, Micro... ORPHA:2839
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Sparse eyebrow, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, H... OMIM:143095
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Pectus excavatum, Inability to walk, Delayed eruption of teeth, Pectus carinatum,... ORPHA:261552
Wt Limb-Blood Syndrome
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln... OMIM:194350
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Periventricular Nodular Heterotopia 7
Optic atrophy, Micrognathia, 2-3 toe syndactyly, Flexion contracture OMIM:617201
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Ureteral obstruction, Limitation of knee mobi... ORPHA:1826
Hurler Syndrome
Hepatomegaly, Retinal degeneration, Calvarial hyperostosis, Short neck, Hypoplasia of the femoral... OMIM:607014
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the ureter, Radioulnar synostosis, Abnormal thumb morphology, Abn... ORPHA:3266
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
49,Xyyyy Syndrome
Azoospermia, Micrognathia, Finger clinodactyly, Low-set, posteriorly rotated ears, Short 5th fing... ORPHA:99330
Mucopolysaccharidosis-Plus Syndrome
Pectus excavatum, Hepatomegaly, Inability to walk, Coarse hair, Short neck, Pectus carinatum, Enl... OMIM:617303
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal hair quantity, Short neck, Mitral valve prolapse, Abnormal ... ORPHA:2233
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypertrichosis, Broad phalanx, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricu... ORPHA:508498
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Me... OMIM:164900
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Sclerosteosis