Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
perlecan (heparan sulfate proteoglycan 2)
Synonyms:
perlecan,  Plc,  per,  Pcn

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hspg2 mutations

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

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

The table below shows human diseases predicted to be associated to Hspg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Osteoarthrit... ORPHA:93308
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... ORPHA:2114
Mueller-Weiss Syndrome
Abnormality of the os naviculare pedis, Sclerosis of foot bone, Positional foot deformity, Chondr... ORPHA:566943
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Genu varum, Arthralgia of the hip, Abnormality of the knee, Reduced arm span, Fragmenta... ORPHA:166002
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Gait disturbance, Broad... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Dysplasia of the femoral head, Hip subluxation, Protrus... ORPHA:99642
Progressive Pseudorheumatoid Dysplasia
Abnormal foot morphology, Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enl... OMIM:208230
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Epiphyseal dysplasia, Delaye... OMIM:600969
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Small epiphyses, Genu varum, Flattened knee epiphyses, Knee osteoarthritis, ... OMIM:600204
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Antalgic gait, Thoracic scoliosis, Abnormality of tibial epiphyses... ORPHA:166011
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chon... ORPHA:564003
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Cervical platyspondyly, Short middle phalanx of finger, Genu varum, Sh... ORPHA:93314
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Arthralgia of the hip, Flat ... OMIM:614135
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Osteochondritis Dissecans, Abnormal tarsal ossification, Chondritis, Tarsal scl... ORPHA:563991
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... OMIM:271650
Eiken Syndrome
Limited elbow flexion, Cubitus valgus, Metaphyseal irregularity, Epiphyseal dysplasia, Absence of... ORPHA:79106
Familial Avascular Necrosis Of Femoral Head
Flattened femoral head, Hip osteoarthritis, Abnormal femoral neck/head morphology, Lower limb asy... ORPHA:86820
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Pear-sh... OMIM:602111
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Anterior rib cuppi... OMIM:184253
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Pterygium, Talipes equinovarus, Anterior rib cupping,... OMIM:211350
Thoracomelic Dysplasia
Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short r... ORPHA:1803
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Rhizomelic Chondrodysplasia Punctata, Type 1
Micrognathia, Coronal cleft vertebrae, Epiphyseal stippling, Rhizomelia, Kyphoscoliosis, Flat fac... OMIM:215100
Dysspondyloenchondromatosis
Lower limb asymmetry, Kyphoscoliosis, Generalized joint laxity, Metaphyseal enchondromatosis, Abn... ORPHA:85198
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Joint dislocation, Abno... ORPHA:2097
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Increased... ORPHA:93284
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Large hands, Bowing of the long bones, Abnormal form of the v... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Limb undergrowth, Flat face, Waddling gait, Limited elbow extension, Enlarged... ORPHA:156728
Albers-Schönberg Osteopetrosis
Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Facial palsy, Abnormalit... ORPHA:53
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Flat face, Sandal gap, Craniofacial hyperostosis, Limit... ORPHA:2725
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Chondroectodermal Dysplasia With Night Blindness
Gait disturbance, Micrognathia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the ... ORPHA:319195
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Increased head circumference, Dysplasia of the ... ORPHA:94068
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Al-Gazali Syndrome
Micrognathia, Failure to thrive, Broad distal phalanx of finger, Osteopenia, Wrist flexion contra... OMIM:609465
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Type 1 muscle fiber predominance, Ragged-red muscle fibers, Favorable response of weakn... ORPHA:353327
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... OMIM:619598
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Gait disturbance, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis ... ORPHA:2501
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Flat face, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, ... ORPHA:1427
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Limb undergrowth, Rhizomelia, Abnormal... ORPHA:177
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Delayed ossification of carpal bones, Pre... OMIM:105835
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Lytic defects of humeral ... OMIM:601376
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Delayed proximal femoral epiphyseal... ORPHA:93311
Metaphyseal Acroscyphodysplasia
Genu varum, Flat face, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses o... OMIM:250215
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Coarse facial features, Small epiphyses, Micrognathia, Laryngotracheomalacia, Abnormal vertebral ... ORPHA:93346
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short middle phalanx of finger, Hip osteoarthritis, Abnormality of epiphysis morphology, Short mi... ORPHA:63442
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Flattened femoral head, Genu varum, Abnormality of femur ... ORPHA:1822
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Pierre-Robin sequence, 11 pairs of ribs, Anterior open-bite malocclusion, T... OMIM:617877
Developmental Dysplasia Of The Hip 2
Coxa valga, Arthritis, Hip dysplasia, Hip osteoarthritis OMIM:615612
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Ptosis, Facial palsy, EMG: myopathic abnormalities, Flexion contract... OMIM:160150
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Short thumb, Waddling gait, Broad hallux, Osteochondritis Dissecans, Osteoart... OMIM:165800
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Kyphos... OMIM:271530
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Fatigable weakness, Ptosis OMIM:614750
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Osteoarthritis, Brachydactyly OMIM:618618
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Hip contracture, Respiratory insufficiency, Short finger, Tapered finger,... OMIM:313420
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Patent ductus arteriosus, Deviation ... OMIM:201000
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Flat face, Genu valgum, Short foot, Short metacarpal, Patellar dislocation, Short t... OMIM:614078
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Pes planus, Flat face, Toe clinodac... OMIM:615777
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Respiratory failure, Flar... OMIM:156530
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Talipes, Abnorm... ORPHA:1842
Dysostosis Multiplex, Ain-Naz Type
Coarse facial features, Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongate... OMIM:619345
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Macrocephaly, Limited elbow extension, Abnorma... OMIM:146000
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Platyspondyly ORPHA:93283
Cranio-Osteoarthropathy
Eczema, Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, De... ORPHA:1525
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... OMIM:210710
Spondylocarpotarsal Synostosis Syndrome
Talipes equinovarus, Capitate-hamate fusion, Broad face, Epiphyseal dysplasia, Pes planus, C2-C3 ... OMIM:272460
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Facia... OMIM:166600
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Short lon... OMIM:611702
Progressive Osseous Heteroplasia
Limitation of joint mobility, Osteoarthritis, Ectopic ossification in muscle tissue, Brachydactyly ORPHA:2762
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Kyphosis... OMIM:130060
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormal foot morphology, Abnormality of the hand, Abnormality of the metaphys... ORPHA:1657
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Premature osteoarthritis, Epiphyseal dysplasia, Platyspondyly OMIM:184840
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Enlargement of the ... OMIM:600081
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Enlargement of the c... OMIM:609052
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Abnormal form of the vertebral bodies, Flat face, Genu valgum, Deviation of finger, C... ORPHA:2831
Al-Raqad Syndrome
Flat face, Sandal gap, Microcephaly, Inability to walk, Unsteady gait, Brachydactyly, Joint laxity OMIM:616459
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Talipes equinovarus, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Flat face, Hip dislocat... OMIM:615349
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... OMIM:616897
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Autosomal Recessive Stickler Syndrome
Micrognathia, Irregular vertebral endplates, Abnormality of epiphysis morphology, Epiphyseal dysp... ORPHA:250984
Hand And Foot Deformity With Flat Facies
Abnormal foot morphology, Flat face, Contractures of the interphalangeal joint of the thumb, Meta... OMIM:139750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... ORPHA:93352
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Palmoplantar keratoderma, Obesity ORPHA:2206
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Pes planus, Microretrognathia, Short long bone, Small epiphyses, Micrognathia, K... OMIM:618363
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Hypoplasia o... OMIM:600561
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Flat face, Genu valgum, Coxa valga, Round face, Short phalanx of finger, Br... OMIM:132450
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Ptosis, Arthrogryposis multiplex congenita, Fatigable weakness, Gene... OMIM:254210
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovoid vertebral bodie... OMIM:184255
Schwartz-Jampel Syndrome, Type 1
Anterior bowing of long bones, Hip contracture, Talipes equinovarus, Skeletal muscle hypertrophy,... OMIM:255800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Platyspondyly, Flattened metatarsal heads, Osteoa... OMIM:271600
Peripheral Dysostosis
Joint stiffness, Clinodactyly of the 5th finger, Osteoarthritis, Brachydactyly, Cone-shaped epiph... ORPHA:1795
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, Ptosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Achondrogenesis Type 1A
Micrognathia, Multiple rib fractures, Flat face, Short foot, Macrocephaly, Short palm, Recurrent ... ORPHA:93299
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Short ribs, Reduced bone mineral density, Cleft lip, Syn... ORPHA:1505
Widow'S Peak Syndrome
Arthralgia/arthritis, Arthralgia of the hip, Recurrent patellar dislocation, Hip osteoarthritis, ... OMIM:314570
Peroxisome Biogenesis Disorder 7A (Zellweger)
Flat face, Talipes equinovarus, Epiphyseal stippling OMIM:614872
Achondrogenesis Type 1B
Micrognathia, Talipes equinovarus, Flat face, Short foot, Macrocephaly, Abnormal rib morphology, ... ORPHA:93298
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... ORPHA:596
Emery-Nelson Syndrome
Flat face, Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of fin... ORPHA:1927
Salih Myopathy
Myopathy, Ptosis, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated... OMIM:611705
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L... ORPHA:266
Intellectual Developmental Disorder, Autosomal Dominant 59
Facial hypotonia, Flat face, Short foot, Macrocephaly, Abnormal facial shape, Short palm, Brachyd... OMIM:618522
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Ptosis, Fatigable weakness, Generali... OMIM:605809
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Ptosis, Fatig... OMIM:603034
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Talipes equinovarus, Rocker bottom foot, Hand clenching, Facial diplegia, Respirato... OMIM:611890
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Micrognathia, Knee dislocation, Osteoporosis, Shoulder dislocation, Pes planus, Hi... OMIM:618000
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... OMIM:618022
Peroxisome Biogenesis Disorder 3A (Zellweger)
Flat face, Epiphyseal stippling OMIM:614859
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Brachydactyly, Clinodactyly, Microcephaly OMIM:233270
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Fatigable weakness, Ptosis OMIM:616227
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination, Gliosis, EEG abnormality, Abnormal upper motor neuron morp... OMIM:221770
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flat face, Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Br... OMIM:619479
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Ptosis, Failure to thrive, Facial palsy, Congenital hip dislocation, Type... OMIM:255310
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Enlargement of the ankles, Limitation of movement at ankles, Shou... ORPHA:437572
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Talipes equinovarus, Bowing of the long bones, Flat face, Anisospondyly, Short long... OMIM:224410
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... OMIM:617719
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Talipes equinovarus, Hand clenching, Respiratory insufficiency due to muscle weakne... OMIM:618291
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Prominent interphalangeal joints, Large tarsal bones, Micrognathia, Coronal cleft vertebrae, Shor... OMIM:215150
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture... OMIM:602484
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... ORPHA:50809
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Campomelic Dysplasia
Micrognathia, Small abnormally formed scapulae, Tibial bowing, Tracheobronchomalacia, Talipes equ... ORPHA:140
Dysostosis, Stanescu Type
Abnormality of epiphysis morphology, Macroglossia, Bowing of the long bones, Abnormality of the m... ORPHA:1798
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Genu recurvatum, Proximal... ORPHA:206549
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Flat face, Reduc... ORPHA:93315
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Large fontanelles, Mandibular aplasia, Short nose, Short nec... ORPHA:1832
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Type 2 muscle fiber atrophy, Fatigable weakness, Ptosis OMIM:601462
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Rocker bottom foot, Talipes equinovarus, Arthrogryposis multiplex c... OMIM:616570
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Thanatophoric Dysplasia
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Abnormality of the metaphysis, P... ORPHA:2655
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Abnormality of so... ORPHA:206594
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy, Abnormal autonomic nervous system physiology DECIPHER:59
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Flat face, Pathologic fract... OMIM:271640
Odontochondrodysplasia
Death in infancy, Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short ... ORPHA:166272
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Failure t... OMIM:214150
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, E... OMIM:224400
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... ORPHA:93333
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Flat face, Micromelia, Hypoplastic ilia OMIM:600972
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Polyarticular arthritis, Synovitis, Abnormality of epiphysis mor... ORPHA:85435
Spondyloepiphyseal Dysplasia Congenita
Talipes equinovarus, Flat face, Delayed calcaneal ossification, Limitation of knee mobility, Kyph... OMIM:183900
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Abnormality of the hand, Thin bony cortex, Hype... ORPHA:75508
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia... OMIM:300863
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... OMIM:609655
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... OMIM:265900
Richieri Costa-Da Silva Syndrome
Metatarsus adductus, Decreased muscle mass, Generalized bone demineralization, Skeletal muscle hy... ORPHA:3101
Short Stature, Brussels Type
Triangular face, Delayed epiphyseal ossification, Calcification of cartilage, Abnormal facial sha... ORPHA:2867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Reduced bone mineral densit... ORPHA:2370
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Coarse facial features, Thin ribs, Long foot, Arachnodactyly, Eunuchoid habitus, Osteopenia, Join... ORPHA:2463
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Lethal Kniest-Like Dysplasia
Broad long bones, Abnormal cartilage matrix, Anterior rib cupping, Talipes equinovarus, Coronal c... ORPHA:2347
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Irregular vertebral endplates, Failure to thrive, Rhizomelia, Osteopenia, Stippled ... OMIM:222765
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Enlargement of the ... OMIM:241530
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphys... OMIM:616716
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa va... OMIM:313400
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Ptos... OMIM:255320
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Flat face, Camptodactyly, Short long bon... OMIM:228520
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Optic atrophy, Ptosis, Increased variability in muscle fib... ORPHA:401768
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Flat face, Abnormal facial shape, Syndactyly, Camptodactyly OMIM:616006
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short ribs, Iliac crest serration, Severe platyspondyly, Vascular dilatation, Low-set ears, Short... OMIM:613320
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Wiedemann-Steiner Syndrome
Short middle phalanx of finger, Tapered finger, Failure to thrive, Flat face, Broad-based gait, S... OMIM:605130
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Abnormality of epiphysis morphology, Platyspondyly... ORPHA:90653
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, Osteopetrosis, Facial palsy, Abnormality of the metaphysis, Flat face, Coarse metap... ORPHA:2780
Pycnodysostosis
Carious teeth, Prominent nose, Micrognathia, Spondylolysis, Delayed eruption of permanent teeth, ... OMIM:265800
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Patent ductus arteriosus, Pulmonary artery ste... ORPHA:251071
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Ptosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis mu... OMIM:300580
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Triangula... OMIM:610967
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:264700
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Micrognathia, Flat capital femoral epi... OMIM:190350
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Flat face, Absent frontal s... OMIM:311300
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Limit... ORPHA:239
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Arachnodactyly, Flat face, Finger syndactyly, Short distal phalanx of finger... ORPHA:2994
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... ORPHA:40
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Ptosis, Facial palsy, Arthrogryposis multiplex congenita, Decreased ... OMIM:608930
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Broad face, Pes planus,... ORPHA:439822
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... OMIM:147750
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Depressed nasal bridge, Increased intervertebral space, Lumbar pla... OMIM:618961
Alpha-Mannosidosis
Coarse facial features, Macroglossia, Chronic otitis media, Bowing of the long bones, Hypoplastic... ORPHA:61
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Diabetic Embryopathy
Micrognathia, Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Aplasia/Hypopl... ORPHA:1926
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis, Short thumb, Brachydactyly ORPHA:435804
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhiz... ORPHA:93267
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metap... ORPHA:2788
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Talipes equinovarus, Pes planus, Genu recurvatum, Flat face, Radioulnar synostosis, Micrognathia,... OMIM:130070
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Greenberg Dysplasia
Micrognathia, Abnormal pelvis bone ossification, Anterior rib punctate calcifications, Rhizomelia... ORPHA:1426
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Fatigable weakness of bulbar muscles, Increased muscle lipid con... ORPHA:171439
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Micrognathia, Wrist swelling, Cachexia, Abnormality of epiphysis morphology, Tr... ORPHA:2774
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... ORPHA:261243
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Coarse facial features, Thin ribs, Short long bone, Limb undergrowth, Short ribs, Macrocephaly, S... OMIM:151210
Codas Syndrome
Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodi... ORPHA:1458
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Intrauterine growth retardation, Overfolded... ORPHA:1913
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Thin bony cortex, Rhizomelia, Triangular face, Pes planus, Wormian bones, P... OMIM:619638
Spondyloepiphyseal Dysplasia, Nishimura Type
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly... ORPHA:163649
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short... OMIM:118651
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... OMIM:601596
Eng-Strom Syndrome
Brachydactyly, Scoliosis, Arthritis, Camptodactyly of finger ORPHA:1937
Myopathy, Centronuclear, 2
Ptosis, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Scapular winging, Fle... OMIM:255200
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Ptosis, Failure to thrive, Bilateral ptosis, D... OMIM:619542
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:277440
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Epicanthus ORPHA:324581
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Broad long bones, Pterygium, Talipes equinovarus, Bowing of the legs, Limb undergro... ORPHA:1865
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... OMIM:184260
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Abnormality of epiphysis morpho... ORPHA:970
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Decreased muscle mass, Narrow face, Pes planus, Genu recurvatum, Hip dislocation, Bilateral micro... OMIM:608763
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Erythroderma, Polydactyly, Microphthalmia, Postaxial polydactyly, Epiphyseal st... OMIM:302960
Proximal 16P11.2 Microduplication Syndrome
Hemivertebrae, Failure to thrive, Congenital diaphragmatic hernia, Decreased body mass index, Ara... ORPHA:370079
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Abnormal metacarpal morphology ORPHA:166100
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Ptosis, Hip fl... ORPHA:98913
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Triangular face, Arachnodactyly, Osteopenia, Reduced bo... OMIM:619489
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Ptosis, Rimmed vacuoles ORPHA:270
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, Narrow face, Cubitus valgus, Abnormal form of the vertebral bodies... ORPHA:1327
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... ORPHA:157965
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Talipes equinovarus, Long upper lip, Hearing impairment, Limited elbow extension, E... ORPHA:93359
Rhizomelic Syndrome, Urbach Type
Cleft palate, Triphalangeal thumb, Abnormality of the knee, Abnormal form of the vertebral bodies... ORPHA:3098
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Stickler Syndrome, Type Iv
Flat capital femoral epiphysis, Epiphyseal dysplasia, Flat face, Genu valgum, Irregular capital f... OMIM:614134
Short Stature Syndrome, Brussels Type
Relative macrocephaly, Microretrognathia, Triangular face, Delayed epiphyseal ossification OMIM:601350
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Metaphyseal dysplasia, Genu varum, Pseudoepiphyses of hand bones, Metaphyseal... OMIM:613330
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Joint laxity, Metaphyseal ... OMIM:250460
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness, Coxa val... OMIM:616583
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Convex nasal ridge, Talipes equinovarus, Small hand, Platyspond... ORPHA:85172
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Broad palm, Flat face, Large for gestational age, Partial duplication of thumb phalanx, Short pal... OMIM:601165
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Thanatophoric Dysplasia Type 2
Abnormality of the metaphysis, Platyspondyly, Kyphosis, Flat face, Brachydactyly, Macrocephaly, L... ORPHA:93274
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal vertebral morphology, Abno... ORPHA:324964
Mucopolysaccharidosis Type 7
Coarse facial features, Metatarsus adductus, Diaphyseal thickening, Epiphyseal stippling, Anterio... ORPHA:584
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Malar flattening, Delayed epiphyseal ossification, Platyspondy... OMIM:601561
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Talipes equinovarus, Spatulate thumbs, Pes planus, Flat face, Abnormally large glo... OMIM:245600
Chromosome 18Q Deletion Syndrome
Cleft palate, Talipes equinovarus, Malar flattening, Proximal placement of thumb, Patent ductus a... OMIM:601808
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Ptosis, Failure to thrive, Scapular winging, Fatigable weakness, EMG... ORPHA:424107
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respiratory failure, Respiratory di... OMIM:614399
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Polydactyly, Abnormal heart morphology, Stillb... ORPHA:294975
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Flat face, Polydactyly, Hypoplastic ischia, Microcephaly OMIM:616910
Myopathy, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Supernumerary ribs, Absent th... OMIM:612447
Schwartz-Jampel Syndrome
Hip contracture, Talipes equinovarus, Skeletal muscle hypertrophy, Pes planus, Flat face, Protrus... ORPHA:800
Laron Syndrome
Micrognathia, Abnormality of the elbow, Truncal obesity, Abnormal facial shape, Short toe, Osteoa... ORPHA:633
Weiss-Kruszka Syndrome
Horizontal crus of helix, Bicuspid aortic valve, Ventricular septal defect, Protruding ear, Colpo... OMIM:618619
Craniofacial-Deafness-Hand Syndrome
Narrow face, Ulnar deviation of finger, Flat face, Abnormality of the wrist, Camptodactyly of fin... ORPHA:1529
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Kniest Dysplasia
Hip contracture, Malar flattening, Umbilical hernia, Hypoplastic pelvis, Depressed nasal bridge, ... OMIM:156550
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Pes valgus, Osteoporosis, Pes planus, Wormian bones, Platyspondyly, Joint hyp... OMIM:619131
Smith-Magenis Syndrome
Everted upper lip vermilion, Morphological abnormality of the middle ear, Mandibular prognathia, ... OMIM:182290
Moderate Multiminicore Disease With Hand Involvement
Knee dislocation, Recurrent patellar dislocation, Facial palsy, Intrinsic hand muscle atrophy, Ty... ORPHA:178145
Achondrogenesis
Micrognathia, Abnormality of bone mineral density, Flat face, Macrocephaly, Micromelia, Abnormal ... ORPHA:932
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Ververi-Brady Syndrome
Smooth philtrum, High palate, Wide mouth, Intrauterine growth retardation, Metaphyseal irregulari... OMIM:617982
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... OMIM:611228
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Platyspondyly, Short neck, Delay... OMIM:607095
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Knee osteoarthritis, Hepatosplenomegaly, Uve... ORPHA:85408
Larsen Syndrome
Laryngotracheomalacia, Abnormality of epiphysis morphology, Large joint dislocations, Craniosynos... ORPHA:503
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Irregular vertebral e... OMIM:609223
Achondroplasia
Short middle phalanx of finger, Cervical spinal canal stenosis, Hydrocephalus, Limited elbow exte... ORPHA:15
Temtamy Syndrome
Coarse facial features, Micrognathia, Genu varum, Microphthalmia, Facial asymmetry, Pes planus, B... ORPHA:1777
Genitopalatocardiac Syndrome
Micrognathia, Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventr... OMIM:231060
Bruck Syndrome
Talipes equinovarus, Bowing of the long bones, Osteoporosis, Triangular face, Arthrogryposis mult... ORPHA:2771
Mucolipidosis Type Iii
Coarse facial features, Hypoplastic inferior ilia, Acne, Abnormal form of the vertebral bodies, R... ORPHA:577
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Flat face, Vertebral clefting, Short distal phalanx of finger, Ap... ORPHA:1248
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Triangular face, Sandal... OMIM:618435
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, 2-3 toe syndactyly, High palate, Hip contracture, Wide mouth, Shortening of all di... OMIM:616809
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finge... ORPHA:3329
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Bowing of the long bones, Triangular face, Congenital hip dislocation, Osteope... OMIM:612940
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1263
Multiple Metaphyseal Dysplasia
Gait disturbance, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad dis... ORPHA:93430
Isolated Osteopoikilosis
Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bone, Scler... ORPHA:166119
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... OMIM:226900
Wild Type Abeta2M Amyloidosis
Bone cyst, Macroglossia, Arthritis, Arthropathy, Abnormality of the thenar eminence, Abnormality ... ORPHA:85446
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ptosis OMIM:609283
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Micrognathia, Flat face, Camptodactyly, Long face, Clinodactyly, Brachydactyly OMIM:613604
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Osteoporosis, Triangular face, Dislocated radial head, A... OMIM:614856
Osteogenesis Imperfecta
Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Protrusio acetabuli, Femoral ... ORPHA:666
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Dysplasia of the femoral head, Hemifac... ORPHA:536471
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Macroglossia, Limb undergrowth, Generalized osteosclerosis... ORPHA:1423
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Kyphoscoliosis, Recurrent otitis media, ... OMIM:608545
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Decreased palmar creases, Talipes equinovarus, Platyspondyly, Flat face, Osteopenia, Pathologic f... OMIM:612394
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy, Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Lim... OMIM:127300
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Bethlem Myopathy 2
Myopathy, Hip dislocation, Increased variability in muscle fiber diameter, Flexion contracture, S... OMIM:616471
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Generalized limb muscle atrophy, Abnormality of epiphysis morphology... ORPHA:1306
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Ptosis, Internally nucleated skeletal muscle fibers, Limb muscle ... OMIM:619473
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Abruzzo-Erickson Syndrome
Toe syndactyly, Ulnar deviation of finger, Flat face, Short toe, Brachydactyly, Radioulnar synost... ORPHA:921
Skin Creases, Congenital Symmetric Circumferential, 2
Micrognathia, Microphthalmia, Tapered finger, Long fingers, Pes planus, Flat face, Short palm, Mi... OMIM:616734
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Restricted lar... ORPHA:163665
Cerebrooculofacioskeletal Syndrome 2
Micrognathia, Microphthalmia, Rocker bottom foot, Small for gestational age, Kyphoscoliosis, Camp... OMIM:610756
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Arthrogryposis, Distal, Type 2A
Hip contracture, Talipes equinovarus, Joint contracture of the hand, Flat face, Camptodactyly, El... OMIM:193700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Micrognathia, Talipes equinovarus, Epiphyseal stippling, Failure to thrive, ... OMIM:614866
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Small for gestational age, Hand clenching, Long fingers, Failure ... ORPHA:1617
Catel-Manzke Syndrome
Micrognathia, Ventricular septal defect, Metatarsus valgus, Cleft palate, Pectus excavatum, Abnor... ORPHA:1388
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gliosis, Axonal degeneration, Degeneratio... OMIM:604484
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Malar flattening, Short ribs, Hydrocephalus, Broa... OMIM:304120
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Enlargement o... OMIM:223800
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Lower thoracic interpediculate narrowness, Pathologic fracture, Beaking of v... OMIM:252500
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Fatigable weakness, Flexion contracture, Scapular winging, Limb-girdle ... OMIM:616228
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly, Flat face OMIM:248770
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin r... OMIM:259420
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Ul... OMIM:164900
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple p... OMIM:215140
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Monosomy 18Q
Left-to-right shunt, Talipes equinovarus, Patent ductus arteriosus, Hydrocephalus, Aortic valve s... ORPHA:1600
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Flat face, Camptodactyly, Round face, Microcephaly OMIM:617333
Primary Ciliary Dyskinesia
Wheezing, Neonatal respiratory distress, Chronic otitis media, Abnormal inferior vena cava morpho... ORPHA:244
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Ptosis, Limb muscle weakness, Achilles tendon contracture,... OMIM:617258
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosi... ORPHA:2790
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dystroglycan, Hypoglycosyla... ORPHA:370968
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Cubitus valgus, Rimmed vacuoles, Flexion co... OMIM:248800
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... OMIM:144750
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Pseudodiastrophic Dysplasia
Micrognathia, Talipes equinovarus, Brachycephaly, Tongue-like lumbar vertebral deformities, Rhizo... OMIM:264180
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Long philtrum, Broad finger, Sm... OMIM:300845
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Micrognathia, Wafer-thin platyspondyly, Ulnar deviatio... OMIM:602613
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Convex nasal ridge, Multiple small vertebral fractur... OMIM:156510
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Talipes equinovarus, Arterial rupture, Hip subluxation, Vascular dilatation, Restrictive ventilat... ORPHA:1900
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Acrocephalopolysyndactyly Type Iii
Lower limb undergrowth, Craniosynostosis, Flat face, Preaxial hand polydactyly, Syndactyly, Broad... OMIM:101120
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Cleft palate, Morphological abnormali... ORPHA:79113
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Micrognathia, Ventricular septal defect, Cleft palate, Smooth philtrum, ... ORPHA:1727
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Microphthalmia, Dysmetria, Osteoporosis, Acute rhabdomyolysis, Kyphosis, Ataxia, Ca... ORPHA:48431
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Coronal cleft vertebrae, Epiphyseal stippling, Bowing of the long bones, Coarse metap... ORPHA:1952
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Flattened metacarpal heads, Constrictive pericarditis, Congenital finger fl... OMIM:208250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Ollier Disease
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... ORPHA:296
Lateral Meningocele Syndrome
Bicuspid aortic valve, Smooth philtrum, Malar flattening, Patent ductus arteriosus, Low-set ears,... OMIM:130720
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Small hand, Distal shortening of limbs, Sternocleidomastoid amyot... ORPHA:488434
Kniest-Like Dysplasia, Lethal
Relative macrocephaly, Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irre... OMIM:245190
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Talipes, Ulnar deviation of finger, Overlapping fingers, Camp... ORPHA:1146
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Enlargement ... ORPHA:289157
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Discolored lateral incisors, Conical mandibular incisor, Tapered finger, Irregul... OMIM:601668
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital hip dislocation, Flat face, Joint hypermobility, Congenital knee dislocation, Joint la... OMIM:601450
Recombinant Chromosome 8 Syndrome
Malar flattening, Joint contracture of the hand, Patent ductus arteriosus, Hearing impairment, Th... OMIM:179613
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Respiratory insufficien... OMIM:135100
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Blepharophimosis-Impaired Intellectual Development Syndrome
Talipes equinovarus, Tapered finger, Pes planus, Flat face, Attention deficit hyperactivity disor... OMIM:619293
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Gait disturbance, Broad tibial metaphyses, Irregular verte... OMIM:271630
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Adducted thumb, Knee flexion contracture, Slender finger, Kyphosis, Hip dislocation... ORPHA:75840
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... OMIM:275595
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Flat face, Brachydactyly, Abnormal facial shape, Patellar hypoplasia, Short fourth metata... ORPHA:464288
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Cleft palate, Neonatal respiratory distress, Talipes equinovarus, Br... OMIM:312870
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Broad palm, Small for gestational age, Bifid distal phalanx of the thumb, Flat face, Diastasis re... OMIM:618419
Hyperekplexia 4
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Kyphoscoliosis, Flexion contracture, ... OMIM:618011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Chromosome 6Q24-Q25 Deletion Syndrome
Smooth philtrum, Dysplastic tricuspid valve, Patent ductus arteriosus, Hydrocephalus, Thin upper ... OMIM:612863
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Talipes equinovarus, Macroglossia, Macrotia, Transposition of the great arteries, Eve... OMIM:616789
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Long thorax, Abnormal mitral valve morphology, Mesomeli... ORPHA:1277
Orofaciodigital Syndrome Xv
Broad hallux, Flat face, Postaxial polydactyly OMIM:617127
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Enlargement of the ... OMIM:300554
Trisomy 8P
Cleft palate, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th toe, Short 1st metaca... ORPHA:264450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Flat face, Hip dislocation, Macrocephaly, Coxa valga, Absent extraocular muscles OMIM:109120
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Ovoid vertebra... OMIM:102370
Shox-Related Short Stature
Micrognathia, Tibial bowing, Skeletal muscle hypertrophy, Lower limb undergrowth, Cubitus valgus,... ORPHA:314795
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Pes planus, Toe clinodactyly, Limit... ORPHA:457395
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Intimal thickening in the coronary arteri... OMIM:253010
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal foot morphology, Abnormal hip joint morphology, Abnormality of the calcaneus, Abnormal m... ORPHA:85438
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Patent ductus arteriosus, Posterior fossa cyst at the fourth ventricle, Vascul... OMIM:220220
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Cleft palate, Aplastic clavicle, Hearing impairm... ORPHA:3474
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Failure to thrive in infancy, Adducted thumb, Rocker bottom foot, Flexion contractu... OMIM:610758
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Vascular dilatation, Abnormal cerebral vascular morphology, Low-set ear... ORPHA:2637
Alpha-Mannosidosis, Infantile Form
Flat face, Hepatosplenomegaly, Bilateral coxa valga, Pancytopenia, Coarse facial features, Thicke... ORPHA:309282
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Myopathy, Genu varum, Type 1 muscle fiber predomina... ORPHA:171436
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Cone-shaped epiphysis, Small for gestational age, Failure to thrive, Short metatarsal, Rhizomelia... OMIM:614813
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Facial asymmetry, Synostosis of carpal bones, ... ORPHA:710
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, C... ORPHA:949
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Ptosis, Abnormality of the foot musculature, EMG: myopat... ORPHA:169189
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Stickler Syndrome, Type I
Morbus Scheuermann, Beaking of vertebral bodies, Arachnodactyly, Platyspondyly, Kyphosis, Abnorma... OMIM:108300
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Diaphyseal dysplasi... OMIM:231095
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory insuf... OMIM:208081
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Flat face, Prominent fingertip pads, Microcephaly OMIM:300558
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... OMIM:617974
Diastrophic Dysplasia