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

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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

X-ray

XRay Images Hind Leg and Hip

28 Images

Combined SHIRPA and Dysmorphology

Images

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

28 Images

Gross Pathology and Tissue Collection

Images

72 Images

Eye Morphology

Images Slit Lamp

20 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... OMIM:117000
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist... ORPHA:602
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Ethanolaminosis
Cardiomegaly OMIM:227150
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... OMIM:181400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... OMIM:619042
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Myopathy, Centronuclear, 4
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pe... ORPHA:2370
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Congenital Myopathy 3 With Rigid Spine
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... OMIM:602771
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal oste... OMIM:277950
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleat... OMIM:255310
Distal Deletion 6P
Ectopia pupillae, Atrial septal defect, Posterior embryotoxon, Corneal opacity, Micrognathia, Sho... ORPHA:96125
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Summitt Syndrome
Syndactyly OMIM:272350
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Delayed skeletal... ORPHA:3268
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f... ORPHA:457050
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Short stature, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapulope... OMIM:255160
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... OMIM:616209
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Cataract, Sandal gap, Broad hallux, Persistence of primary teeth, Scarring alopeci... OMIM:618727
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Mitochondrial Myopathy With Diabetes
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... OMIM:500002
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Prenatal Bowing
Bowing of the long bones OMIM:264050
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint... ORPHA:577
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... ORPHA:1040
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... ORPHA:485
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... ORPHA:169186
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... ORPHA:404454
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Abnormal heart morphology, Upper limb phocomelia, Abnorma... ORPHA:294975
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles... ORPHA:750
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmopl... ORPHA:401768
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Hip dislocation, Myopathy, Incre... OMIM:616471
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... ORPHA:75840
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... OMIM:617258
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea... OMIM:166300
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation... ORPHA:2741
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Areflexia of upper limbs, Tre... OMIM:619574
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... OMIM:253010
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Short stature, Centrally nucleated skeletal muscle fib... OMIM:248800
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal dental en... ORPHA:582
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia OMIM:211180
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... OMIM:614326
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... OMIM:194190
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Epiphyseal dysplasia, Hepatomegaly, Elevated circulating cre... OMIM:614727
Osteoporosis
Osteoporosis OMIM:166710
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi... ORPHA:239
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... ORPHA:85166
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Short thorax, ... OMIM:618845
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Corneal... ORPHA:61
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, White... ORPHA:2779
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Myopathy, Distal, 3
Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... OMIM:610099
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Single transverse palmar crease, C... ORPHA:915
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Delayed skeletal maturation, Nephrolithiasis, Abnormal fibula morpho... ORPHA:1837
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... ORPHA:309169
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... ORPHA:598
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... OMIM:300280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... OMIM:259600
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... ORPHA:93307
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... OMIM:606070
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... OMIM:171480
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... OMIM:311895
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... ORPHA:276435
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ... OMIM:177170
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity, Increased intervertebral space, Thoracic p... OMIM:618961
Harel-Yoon Syndrome
Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Ataxia, Micrognathia, Inabi... OMIM:617183
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Crumpled long bones, Joint laxity, Corneal opacity, Waddling gait... ORPHA:2788
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Tremor, Ophthalmoplegia, Increased variability in mu... OMIM:619473
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Abnormal ... ORPHA:2635
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Hammertoe, Optic atrophy, Claw hand deformity OMIM:618511
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Alagille Syndrome
Corneal dystrophy, Micrognathia, Abnormal pupil morphology, Abnormal form of the vertebral bodies... ORPHA:52
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Muscular Dystrophy, Congenital, 1B
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... OMIM:604801
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph... ORPHA:1328
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Abnorm... ORPHA:1445
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl... OMIM:619790
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Double outlet right ventricle, Low an... OMIM:618223
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret... ORPHA:959
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Iron defici... ORPHA:93315
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... OMIM:167320
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoure... ORPHA:567
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal ... ORPHA:93267
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ... ORPHA:2332
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... OMIM:616924
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Verheij Syndrome
Joint laxity, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Truncus arteri... OMIM:615583
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Vesicoureteral reflux, Clinodact... OMIM:244600
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Corneal opacity, Short neck, Genu valgum, Aortic val... OMIM:607016
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Renal insuffic... ORPHA:474
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... OMIM:311300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Leukopeni... OMIM:301056
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy, Overlapping toe OMIM:618572
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Skeletal ... OMIM:619518
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... ORPHA:93314
Palmoplantar Carcinoma, Multiple Self-Healing
Short neck, Palmoplantar keratoderma, Limbal stem cell deficiency, Nail dystrophy, Finger joint h... OMIM:615225
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... ORPHA:1354
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop... ORPHA:496790
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... ORPHA:59135
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... ORPHA:169189
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupilla... OMIM:615877
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Carious teeth, He... ORPHA:377
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Low p... ORPHA:2345
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysis, ... OMIM:215045
Mucolipidosis Iii Gamma
Aortic regurgitation, Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, F... OMIM:252605
Gm1 Gangliosidosis
Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Gene... ORPHA:354
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... ORPHA:971
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Short stature, Paraspinal muscle hypertrophy, Congenital foot ... OMIM:602484
King-Denborough Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscl... OMIM:619542
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Rod-cone dystrophy, Proximal femoral m... OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts... ORPHA:66637
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Short stature, Camptodactyly of finger, Clinodactyly of... ORPHA:376
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... OMIM:603511
Eiken Syndrome
Abnormal trabecular bone morphology, Thin bony cortex, Abnormal acetabulum morphology, Epiphyseal... ORPHA:79106
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Microtia, Clin... OMIM:614851
Isolated Osteopoikilosis
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... ORPHA:166119
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Decreased testicula... ORPHA:99330
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... OMIM:614399
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... ORPHA:98905
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Short thorax, Osteolysis involving bones of the upper limbs, Flexion contra... ORPHA:88630
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip... OMIM:250460
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... OMIM:602111
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus, Micrognathia OMIM:619501
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ... ORPHA:251014
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... OMIM:608940
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Jaw swelling, Camptodactyly of finger, Optic atrophy, Gait ataxia, Inappropriate laughter, Flexio... OMIM:619323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... ORPHA:508498
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... OMIM:150250
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... ORPHA:2484
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... ORPHA:353
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Mitral valve prolapse, Low poste... ORPHA:2233
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Hypopla... OMIM:194350
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...