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Gene: Brinp3 MGI:2443035

Gene Summary

Name:

bone morphogenetic protein/retinoic acid inducible neural specific 3

Synonyms:

Fam5c, B830045N13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal urinary bladder morphology	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal rib morphology	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.31×10^-05
abnormal kidney morphology	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
short tibia	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.52×10^-06
rib fusion	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	3.05×10^-06
lordosis	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	9.21×10^-06
abnormal behavior	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	8.57×10^-07
abnormal vertebral arch morphology	Brinp3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.74×10^-06

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Human diseases caused by Brinp3 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.

Human diseases associated with Brinp3 (0 diseases)
Human diseases predicted to be associated with Brinp3 (749 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Brinp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve...	OMIM:609223
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda...	OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o...	OMIM:618167
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Scapular winging, Lumbar hyperlordosis, Knee flexion contracture, Narrow pelvis ...	OMIM:602484
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Long penis, Abnormal rib morphology, Rib f...	ORPHA:1988
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,...	OMIM:118651
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal ...	ORPHA:1803
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph...	OMIM:617396
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C...	ORPHA:3268
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Dext...	OMIM:613686
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Absence Deformity Of Leg-Cataract Syndrome	Hyperlordosis, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morph...	ORPHA:2310
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos...	ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu...	OMIM:252605
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno...	ORPHA:429
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle...	OMIM:600561
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clav...	OMIM:619698
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral...	OMIM:615222
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Genu varum, Patellar hypoplasia, Short femoral neck, ...	OMIM:609325
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Pes planus, Hip contracture, Kyphoscoliosis, Hyperlordosis, Micrognathia, Coxa...	OMIM:618363
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Pes planus, Scapular winging, Hip contracture, Hyperlordosis, Pectus excavatum, Kyphosis, Achille...	OMIM:615290
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia	ORPHA:156728
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic a...	OMIM:620076
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis	OMIM:300718
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Familial Anetoderma	Abnormal tibia morphology, Lumbar hyperlordosis	ORPHA:228277
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Micrognathia, Spinal rigidity, Scoliosis	OMIM:618524
Mucolipidosis Type Iii	Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a...	ORPHA:577
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Talipes equinovar...	OMIM:600175
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend...	ORPHA:62
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,...	ORPHA:2522
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Dilated cardiomyopathy, Calf muscle hypertrophy, Thorac...	ORPHA:206546
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol...	ORPHA:474
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Myosclerosis, Autosomal Recessive	Achilles tendon contracture, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity	OMIM:255600
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Talipes, Tarsal synostosis, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C...	ORPHA:582
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Hypospadias, Rhizome...	OMIM:611209
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v...	OMIM:602271
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal rib morphology, Abnormal carpal morphology, Sh...	ORPHA:93351
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var...	OMIM:608940
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu...	ORPHA:2790
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ankle flexion contr...	ORPHA:280333
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e...	OMIM:146000
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies...	ORPHA:2831
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal lower limb muscle weakness, Hyperlordosis	OMIM:607088
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Nemaline Myopathy 5C, Autosomal Dominant	Scapular winging, Hyperlordosis, Achilles tendon contracture, Pectus carinatum, Scoliosis, Pes cavus	OMIM:620389
Acromesomelic Dysplasia 1	Short metacarpal, Lumbar hyperlordosis, Radial bowing, Ovoid vertebral bodies, Broad metatarsal, ...	OMIM:602875
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Rib fusion, Abnormal heart morphology, ...	ORPHA:261197
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Pes planus, Scapular winging, Ventricular septal defect, Monkey wrench femoral...	OMIM:618870
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Anauxetic Dysplasia 1	Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i...	OMIM:607095
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Masa Syndrome	Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly	OMIM:610313
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Myopathy, Distal, 1	Toe extensor amyotrophy, Lumbar hyperlordosis, Left atrial enlargement, Dilated cardiomyopathy, S...	OMIM:160500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Three M Syndrome 1	Pes planus, Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height,...	OMIM:273750
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr...	ORPHA:93267
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Scoliosis	OMIM:619042
Rigid Spine Syndrome	Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:97244
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hip dysplasia, Abnormality of the Achilles tendon, Hyperlordosis	ORPHA:363454
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Talipes equinovarus, Scoliosis, Hyperlordosis	OMIM:611067
Femoral-Facial Syndrome	Short fourth metatarsal, Micrognathia, Hemivertebrae, Micropenis, Dysplastic sacrum, Absent verte...	OMIM:134780
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnor...	ORPHA:2345
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal thumb morphology, Abnormal finger morpho...	ORPHA:2511
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:263520
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Short thorax, ...	OMIM:618845
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irreg...	OMIM:618395
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Short ...	OMIM:619451
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Calf muscle hypertro...	ORPHA:267
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b...	ORPHA:56305
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce...	ORPHA:3320
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo...	OMIM:615633
Usmani-Riazuddin Syndrome, Autosomal Dominant	Pes planus, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short ...	OMIM:619467
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Calf muscle hypertrophy, Cardiomyopathy, Lumbar hyperlordosis, Spinal rigidity	OMIM:609308
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi...	OMIM:268310
Congenital Muscular Dystrophy Due To Lmna Mutation	Talipes, Spinal rigidity, Narrow chest, Hyperlordosis	ORPHA:157973
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Myopathic Ehlers-Danlos Syndrome	Pes planus, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, ...	ORPHA:536516
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepiphyseal Dysplasia Congenita	Back pain, Short neck, Micrognathia, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h...	ORPHA:94068
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra...	ORPHA:93315
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kypho...	OMIM:615761
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Hypospadias, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ...	OMIM:607143
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp...	ORPHA:15
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Short neck, Cardiomegaly, Pericardia...	OMIM:239850
Melnick-Needles Syndrome	Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Abnormal rib morphology, Hip di...	ORPHA:2484
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno...	ORPHA:2319
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis	OMIM:616756
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis	ORPHA:408
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula...	OMIM:612813
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ...	OMIM:259440
Striatonigral Degeneration, Childhood-Onset	Ankle clonus, Lumbar hyperlordosis	OMIM:617054
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small...	ORPHA:93356
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum...	OMIM:612921
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Multiple renal cysts...	ORPHA:66637
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal...	ORPHA:3035
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of...	OMIM:264180
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A...	ORPHA:1507
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Bowing of th...	OMIM:255800
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormality of the a...	ORPHA:970
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Hyperlordosis, Kyphosis, Met...	OMIM:181405
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ...	ORPHA:3218
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Missing ribs, Short neck, Absent thumb, Humeroradial synostosis, Absent...	OMIM:251230
Mulchandani-Bhoj-Conlin Syndrome	Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly	OMIM:617352
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of toe,...	OMIM:265000
Myasthenic Syndrome, Congenital, 14	Pes planus, Scapular winging, Hyperlordosis, Knee flexion contracture, Scoliosis	OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Hyperlordosis	OMIM:618129
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi...	ORPHA:1394
Steel Syndrome	Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino...	OMIM:615155
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Cardiomegaly, Wide distal femoral metaphysis, Dela...	OMIM:613320
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Transient nephrotic syndrome, Abnormal ...	ORPHA:356961
Three M Syndrome 3	Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl...	OMIM:614205
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx...	OMIM:615777
Nemaline Myopathy 7	Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture	OMIM:610687
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Be...	OMIM:616897
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Scapular winging, Lumbar hyperlordosis, Achilles tendon contractur...	ORPHA:353
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Micrognathia, Kyphosis, Po...	ORPHA:3082
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Pes cavus	OMIM:161800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Ectopic kidney, Short neck	ORPHA:2578
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Hyperlordosis, Avascular necrosis of the...	ORPHA:77258
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Myopathy, Scapulohumeroperoneal	Achilles tendon contracture, Scapular winging, Scoliosis, Hyperlordosis	OMIM:616852
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ...	OMIM:100800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventricular canal defect,...	OMIM:617925
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Nephrotic syndrome, Abnormal mitral valve morphology, Nephropathy	ORPHA:1192
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig...	OMIM:616817
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Micromelia, Micr...	ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il...	OMIM:169550
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S...	OMIM:601559
Ck Syndrome	Micrognathia, Hyperlordosis, Kyphosis, Scoliosis, Abnormal digit morphology	OMIM:300831
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Pectus excavatum, ...	ORPHA:2990
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Tetralogy ...	ORPHA:276422
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin...	ORPHA:313892
Robinow Syndrome	Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte...	ORPHA:97360
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short metacarpal, Sand...	ORPHA:1427
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ...	OMIM:183900
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Pes cavus	OMIM:255200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax...	ORPHA:1120
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Hyperlordosis, Long fingers, ...	ORPHA:169186
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovo...	OMIM:252920
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Congen...	ORPHA:2970
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Pes planus, Overlapping...	OMIM:213980
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Lower limb a...	ORPHA:1703
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho...	OMIM:255710
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Hyperlordosis, Pectus excavatum, Calf muscle hypertrophy, Talipes equin...	OMIM:611588
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Short 5th finger, Scol...	ORPHA:557003
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hyperlordosis, Hip dislocation, Scoliosis, Left ventricular hypertrophy, Micropenis	OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ...	ORPHA:98855
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Epispadias, Rib fusion, Vertebral arch anomaly, Cutaneo...	OMIM:148050
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,...	ORPHA:2475
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Micrognathia, Hip disloca...	ORPHA:171436
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ...	OMIM:143095
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Coxa valg...	ORPHA:263508
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Hypospadias, Missing ribs, Rib fusion, Hemivertebrae...	OMIM:206900
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Nemaline Myopathy 2	Calf muscle pseudohypertrophy, Talipes, Spinal rigidity, Hyperlordosis, Abnormal rib cage morphol...	OMIM:256030
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Pectus carinatum, Coxa vara, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Nail-Patella Syndrome	Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border of the...	OMIM:161200
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Sm...	OMIM:619980
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small hand, Short foot, Brachyda...	OMIM:617450
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly	OMIM:165800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defec...	ORPHA:280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ...	OMIM:269250
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ...	OMIM:215150
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachy...	ORPHA:171866
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat...	ORPHA:98863
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Atr...	ORPHA:96334
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora...	OMIM:228520
Emery-Dreifuss Muscular Dystrophy	Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ...	ORPHA:98853
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili...	OMIM:212720
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Scapular winging, Spinal rigidity, Cardiomegaly, Hyperlordosis, Limited knee flexion/extension, P...	ORPHA:268
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone ...	ORPHA:3068
Fucosidosis	Cervical platyspondyly, Barrel-shaped chest, Hepatomegaly, Lumbar hyperlordosis, Absent/hypoplast...	OMIM:230000
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat...	ORPHA:2911
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Cardiomyopathy, Calf muscle hypertrophy, Thigh hypertrophy...	ORPHA:86812
Dna2-Related Mitochondrial Dna Deletion Syndrome	Hyperlordosis	ORPHA:352470
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c...	ORPHA:93298
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Ankle flexion contracture	OMIM:613818
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos...	ORPHA:583
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Scapular winging, Lumbar hyperlordosis, Limited knee flexion, Absent Achilles reflex, Hammertoe, ...	ORPHA:435387
Ck Syndrome	Microretrognathia, Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers	ORPHA:251383
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal...	OMIM:300232
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology	OMIM:167320
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Trichorhinophalangeal Syndrome, Type I	Pes planus, Scapular winging, Short metacarpal, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finge...	ORPHA:568
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly	ORPHA:3085
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology, Abnormality of ...	OMIM:601076
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Scoliosis, Pes cavus	OMIM:620285
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Calf muscle hypertrophy, Ankle flexion contracture, Scoliosis, Hyperlordosis	OMIM:617760
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi...	OMIM:250250
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi...	OMIM:211350
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r...	ORPHA:2876
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver...	ORPHA:2234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Calf muscle pseudohypertrophy, Hyperlordosis, Right ventricular dilatation, Scoliosis, Right vent...	OMIM:253700
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi...	OMIM:602471
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Coxa vara, Mitr...	ORPHA:2848
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Wieacker-Wolff Syndrome	Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ...	OMIM:314580
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Thoracic kyphosis, S...	OMIM:619542
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Brachydactyly, Congenital hip dislocation, Hyperlordosis, Micrognathia, Hypoplasia of...	OMIM:616007
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Abnormal foot morphology, N...	OMIM:269920
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Abnormal femur morphology, Talipes calcaneovalgus, Patellar...	ORPHA:2614
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Abnormal rib morphology, Hypoplastic ...	ORPHA:2772
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Micrognathia, Hyperlordosis, Ulnar deviation of fin...	ORPHA:1387
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ...	OMIM:271510
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Ventricular septal defect, Short humerus,...	OMIM:142900
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Abno...	ORPHA:1798
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bel...	OMIM:619131
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femu...	ORPHA:3130
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Vertebral segmentation d...	ORPHA:1323
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Pes planus, Arachnodactyly, Hyperlordosis, Micrognathia, Pectus carinat...	OMIM:300986
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal...	OMIM:617022
Osteopathia Striata-Cranial Sclerosis Syndrome	Hyperlordosis, Micrognathia, High iliac wing, Asymmetry of the thorax, Scoliosis, Large iliac win...	ORPHA:2780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ...	OMIM:606612
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal rigidity, Achill...	OMIM:617114
Pycnodysostosis	Abnormal clavicle morphology, Brachydactyly, Rhizomelia, Hyperlordosis, Micrognathia, Kyphosis, H...	ORPHA:763
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Increased intervertebral space, Narrow greater sciatic notch, Abnormality of the ce...	ORPHA:508533
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis	OMIM:255310
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,...	OMIM:166210
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec...	OMIM:108721
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom...	ORPHA:2347
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Hyperlordosis	OMIM:615156
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebr...	OMIM:118100
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A...	ORPHA:2021
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe...	OMIM:157800
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Cap Myopathy	Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Pectus excavatum, Mitral valve prolapse, Pe...	ORPHA:171881
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
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
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch...	ORPHA:93299
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy...	OMIM:200980
Cohen Syndrome	Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Micrognathia, Tapered fin...	OMIM:216550
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bon...	ORPHA:1318
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios...	ORPHA:50
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, Abnormal long bone morphology, Cardiomyopathy, Abnormality of the vertebral column...	ORPHA:52430
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Cardiomegaly	OMIM:300886
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F...	ORPHA:1788
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Cervi...	OMIM:601389
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab...	ORPHA:1488
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Slender...	ORPHA:1486
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Genu va...	OMIM:618443
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange...	ORPHA:710
Frontometaphyseal Dysplasia 1	Carpal synostosis, Absent frontal sinuses, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Shox-Related Short Stature	Micrognathia, Short neck, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Scoliosis,...	ORPHA:314795
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb...	OMIM:252900
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca...	ORPHA:79345
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La...	OMIM:617895
Congenital Myasthenic Syndromes With Glycosylation Defect	Pes planus, Scapular winging, Lumbar hyperlordosis, Knee flexion contracture, Scoliosis	ORPHA:353327
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ...	OMIM:215140
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp...	ORPHA:2097
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fusion, Hypo...	OMIM:194190
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars...	ORPHA:96148
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Abnorm...	ORPHA:354
Ellis-Van Creveld Syndrome	Hypospadias, Epispadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyse...	OMIM:225500
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli...	OMIM:616229
Myopathy, Centronuclear, 1	Distal lower limb muscle weakness, Hyperlordosis	OMIM:160150
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Dilated cardiomyopathy...	OMIM:310200
Camurati-Engelmann Disease	Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,...	ORPHA:1328
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Abnormal rib morph...	ORPHA:52
Chromosome 10Q26 Deletion Syndrome	Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Congenital hip dislocation, Toe...	OMIM:609625
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Hydronephrosis	ORPHA:195
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of th...	ORPHA:73230
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Lateral Meningocele Syndrome	Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Micrognathia, A...	ORPHA:2789
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio...	OMIM:277600
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, S...	OMIM:258315
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Pectus carinatum, Knee dislocation...	OMIM:245600
Zttk Syndrome	Ventricular septal defect, Polyuria, Unilateral renal agenesis, Kyphosis, Rib fusion, Hemivertebr...	OMIM:617140
Baller-Gerold Syndrome	Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology, Hypoplasi...	OMIM:218600
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Secundum atrial septal defect, Abnormal 5th f...	ORPHA:1439
Dysosteosclerosis	Sclerotic scapulae, Micrognathia, Increased intervertebral space, Absent frontal sinuses, Abnorma...	OMIM:224300
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal scle...	OMIM:260400
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer...	OMIM:304050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae,...	ORPHA:800
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Hypospadias, Dilated cardiomyopa...	ORPHA:1606
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Hyperlordosis, Micrognathia, Short neck, Limited knee flexion, Calcan...	OMIM:615065
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis	OMIM:619719
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Calf muscle hypertrophy, Hyperlordosis	OMIM:613157
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma...	ORPHA:1834
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Split hand, Abnormal rib...	ORPHA:2145
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb...	ORPHA:2759
Gm1-Gangliosidosis, Type I	Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly...	OMIM:230500
Trisomy 13	Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnorma...	ORPHA:3378
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Abnormal thorax morphology, Lateral humeral condyle aplasia, Fibular h...	OMIM:164900
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A...	ORPHA:2050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Femoral bowing, Tibial bowing, ...	OMIM:616482
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, O...	OMIM:252930
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ...	ORPHA:3144
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi...	OMIM:156550
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex...	OMIM:618150
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum ...	ORPHA:2519
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Hyperlordosis, Glutaric aciduria, Lacticaciduria, Abnormal heart ...	ORPHA:26791
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidn...	ORPHA:887
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scolios...	OMIM:259420
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon...	OMIM:607944
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Schimke Immunoosseous Dysplasia	Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage...	OMIM:242900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Triangular shaped distal phalanges of t...	OMIM:271665
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l...	OMIM:253220
Occipital Horn Syndrome	Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Aplastic ...	ORPHA:198
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Micropenis, Hydronephrosis	OMIM:619185
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Coxa valga...	OMIM:608149
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Pure Mitochondrial Myopathy	Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis, Hyporeflexia of lower...	ORPHA:254854
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ...	OMIM:312150
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ...	OMIM:610915
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pectus excavatum, Inc...	OMIM:613385
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Scoliosis, Cardiomegaly	ORPHA:3137
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadia...	OMIM:265380
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg...	OMIM:241530
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ...	OMIM:253290
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b...	OMIM:274000
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Micrognathia, Tapered finger, Abnormal thumb morpho...	ORPHA:1452
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hyp...	OMIM:252500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Micrognat...	ORPHA:251028
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate...	OMIM:607872
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Ve...	OMIM:617952
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Plan...	OMIM:109400
Radio-Renal Syndrome	Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abn...	ORPHA:3015
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Bethlem Myopathy	Scapular winging, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, Ankle flexio...	ORPHA:610
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t...	ORPHA:573278
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Short metatarsal, Spinal canal...	OMIM:608328
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, Coxa valga, Vertebral ar...	ORPHA:85184
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Micrognathia, Hyperlordosis	OMIM:600462
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of fin...	ORPHA:93473
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen oval...	OMIM:269860
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Dee...	ORPHA:96061
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem...	ORPHA:89936
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Atrial septal defect, Micropenis, Atrioventricular canal defect, M...	ORPHA:672
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology	ORPHA:436
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Hepatomegaly, Hyperlordosis	ORPHA:369840
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb...	OMIM:617796
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Mic...	ORPHA:2020
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Short 1st metacarpal, Fibular hypoplasia, Hypoplastic d...	OMIM:164745
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Congenital Myopathy 10B, Mild Variant	Achilles tendon contracture, Knee contracture, Scoliosis, Hyperlordosis	OMIM:620249
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary epinephrine level, Scoliosis, Pes cav...	OMIM:162300
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Hypospadias, Ectopic kidney, Absent radius, Short thumb, H...	OMIM:192350
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in ...	ORPHA:505248
Renpenning Syndrome	Hypospadias, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly o...	ORPHA:3242
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Absent Achilles reflex, Scoliosis, Hyperlordosis	OMIM:128100
Distal 22Q11.2 Microdeletion Syndrome	Pes planus, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnodactyly, ...	ORPHA:261330
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Wide capital femoral epiphyses, Short ...	ORPHA:1830
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Arach...	ORPHA:261344
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Arachnodactyly, Cardiomegaly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender long...	ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Pes planus, Hyperlordosis, Tapered finger, Hip dislocation, Hepatosplenomegaly, Gen...	OMIM:301066
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:666
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses, Myocardial fibro...	OMIM:253250
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor...	OMIM:307800
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R...	OMIM:210720
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Pes cavus, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognath...	ORPHA:363700
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Pes cavus	OMIM:615980
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste...	OMIM:309350
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac...	ORPHA:2167
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ...	OMIM:206920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Unilateral renal agenesis, Absent thumb, Ri...	ORPHA:500150
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Hyperlordosis, Abnormal form o...	ORPHA:794
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo...	ORPHA:324410
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis	ORPHA:615
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuses, Scoliosis...	OMIM:269300
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th...	ORPHA:488434
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Cardiomyopathy, Pes cavus, Abnormal renal physiology	OMIM:266500
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Sanda...	OMIM:210600
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Occipital Horn Syndrome	Pes planus, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, Ca...	OMIM:304150
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:2769
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly	OMIM:618265
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c...	OMIM:224690
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm	OMIM:244460
Xylt1-Cdg	Pes planus, Hepatomegaly, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho...	ORPHA:370930
3Mc Syndrome	Hyperlordosis, Hip dislocation, Radioulnar synostosis, Prominent coccyx, Scoliosis, Spina bifida ...	ORPHA:293843
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Finger clinodactyly, En...	ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal...	ORPHA:3301
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Pro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Pro...	ORPHA:363958
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Hyperlordosis, Abnormality of the ureter, Palmop...	ORPHA:3253
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Hepatosplenomegaly, Platyspondyly...	ORPHA:79255
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Hallermann-Streiff Syndrome	Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Thin ribs, Abnormal rib cage...	OMIM:234100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Abnor...	ORPHA:1666
Helsmoortel-Van Der Aa Syndrome	Pes planus, Prominent fingertip pads, Sandal gap, Broad hallux, Hyperlordosis, Pectus excavatum, ...	OMIM:615873
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm...	ORPHA:373
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Talipe...	OMIM:619234
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Pectus carinatum, Scoliosis, ...	OMIM:618143
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Pes cavus, Scoliosis	OMIM:601152
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Ventricular septal defect, Thoracic hypoplasia, Abnormal heart morphology	ORPHA:254534
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Calf muscle pseudohypertrophy, Lumbar hyperlordosis	ORPHA:370959
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Opitz-Kaveggia Syndrome	Syndactyly, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Broad hallux, Short neck, Micrognat...	OMIM:305450
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy...	OMIM:212140
Constricting Bands, Congenital	Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis, Ectop...	OMIM:217100
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae	ORPHA:349
Shprintzen-Goldberg Craniosynostosis Syndrome	Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Lateral clavicle hook, Pectus excavatu...	OMIM:182212
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Overlapping toe, Short neck, Pericardial effusion, C...	OMIM:139210
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradia...	ORPHA:3404
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Thin ribs, Femoral bowi...	OMIM:618188
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ...	OMIM:610682
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Abnormal rib morphology, Platy...	ORPHA:2588
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Kyp...	ORPHA:2215
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Methylmalonic aciduria, Bell-shaped thorax, Atrial septal defect, Homocystinuria, H...	OMIM:614857
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Pectus excavatum,...	OMIM:618371
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped epiphysis, ...	ORPHA:221139
Cole-Carpenter Syndrome 2	Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing	OMIM:616294
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture...	OMIM:620369
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi...	OMIM:617088
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hypospadias	ORPHA:456328
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Hepatomegaly, Pes planus, Ventricular septal defect, Rocker bottom foot, Camptodac...	OMIM:602782
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septa...	OMIM:300373
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Scoliosis	OMIM:613327
Lymphangiectasia, Intestinal	Prominent floating ribs, Pedal edema	OMIM:152800
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Epiphyseal dysplasia, Short ne...	OMIM:252940
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept...	OMIM:269150
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Abnormal form of the vert...	ORPHA:904
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Narrow chest, Vesicoureteral reflux, Micropenis, Abnormal vertebral morphology, S...	ORPHA:95699
Antley-Bixler Syndrome	Arachnodactyly, Talipes, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow...	ORPHA:83
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, ...	ORPHA:391474
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Scoliosis	ORPHA:1300
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa...	ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ...	ORPHA:857
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di...	ORPHA:2041
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Intercostal muscle weakness, Cardiomyopathy, Scoliosis, Hyperlordosis	ORPHA:258
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Hip dysplasia, Cutaneous finger sy...	OMIM:616078
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Ureteral duplication, Renal insufficiency, Tapered toe, Long-chain dicarb...	OMIM:608836
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Hydrolethalus Syndrome 1	Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular canal defect, Pre...	OMIM:236680
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Overlap...	ORPHA:79330
Kinsship Syndrome	Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Renal hypoplasi...	OMIM:619297
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T...	OMIM:259770
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly	ORPHA:42
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Spl...	ORPHA:581
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Atrial septal defec...	OMIM:214800
Trichodermodysplasia-Dental Alterations Syndrome	Palmoplantar keratoderma, Abnormal hip bone morphology, Scoliosis, Hyperlordosis	ORPHA:3353
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ...	ORPHA:818
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Thin ri...	OMIM:601812
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly	OMIM:255120
Tibial Hemimelia	Absent tibia	OMIM:275220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ribs	OMIM:612852
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Brachydactyly	OMIM:602361
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Hyperlordosis, Oligosacchariduria, Scoliosis, Left ventricular hypert...	ORPHA:365
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Asymmetry of the thor...	ORPHA:457359
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Kyphosis, Posterior rib ga...	ORPHA:1393
Severe Congenital Nemaline Myopathy	Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb	ORPHA:171430
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thi...	OMIM:617397
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli...	ORPHA:522077
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Plantar pits, Abnormal rib morphology, Cardiac fibroma, A...	ORPHA:77301
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly	ORPHA:391428
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Tubulointerstitial nephritis, Narrow chest, Hepatomegaly, Rhizomelia, Shor...	OMIM:218330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Hip dysplasia, Scoliosis, Hyperlordosis	OMIM:615356
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c...	OMIM:201475
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot	OMIM:617011
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Micrognathia, Renal cys...	OMIM:616975
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Camptod...	ORPHA:254528
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly	ORPHA:99931
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Broad ischia, D...	OMIM:619727
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Narrow chest, Scoliosis	OMIM:182210
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Multiple small medullary renal cysts, Abnormal...	OMIM:118450
Beck-Fahrner Syndrome	Pes planus, Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Broad clavicles, Micrognathia, ...	OMIM:151050
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias	OMIM:300219
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Proteinuria, Sandal gap, Micrognathia, Pectus excavatum...	OMIM:619127
Stiff-Person Syndrome	Lumbar hyperlordosis	OMIM:184850
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Knee flexion...	OMIM:619503
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Autosomal Dominant Centronuclear Myopathy	Urinary incontinence, Abnormality of the foot musculature, Thin ribs, Calf muscle hypertrophy, Ar...	ORPHA:169189
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Left atrial enlargement, Micrognathia, Thin ribs, Rib osteolysis, Progressive ...	OMIM:614008
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, Abnormal sternum morphology, Sco...	ORPHA:91387
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Syndactyly, Rhizomelia, Short neck, Pectus excavatum, Splenome...	OMIM:613610
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin...	OMIM:225400
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Mi...	ORPHA:798
Fryns Syndrome	Microretrognathia, Ureteral duplication, Prominent fingertip pads, Ventricular septal defect, Hyp...	OMIM:229850
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Hepatosplenomegaly, Thoracic hypoplasia	OMIM:608013
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Pes planus, Sacral dimple, Short neck, Hyperlordosis, Tapered finger, Long fingers, Unilateral re...	OMIM:619950
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Micrognathia, Coxa valga, Bell-shaped thorax, Coat hanger sign of rib...	ORPHA:254519
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a...	ORPHA:63259
Monosomy 9P	Hypospadias, Proximal placement of thumb, Short neck, Micrognathia, Abnormality of the tarsal bon...	ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat...	OMIM:300967
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Hypophosphaturia, Micrognathia, Hyperlordosis, Clinodactyly of the 2nd finger, ...	ORPHA:73223
Trisomy 18	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Abnormality of the lower l...	ORPHA:3380
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Hydr...	OMIM:614921
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, Splenomegaly, Cardiomy...	ORPHA:465508
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept...	OMIM:300855
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary norepinephrine level, Hype...	ORPHA:653
Alpha-Mannosidosis, Infantile Form	Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Hepatosplenomegaly, Oligosacchari...	ORPHA:309282
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ...	ORPHA:217085
Charge Syndrome	Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Horseshoe kidney, Bif...	ORPHA:138
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Episp...	ORPHA:2554
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Singleton-Merten Syndrome 1	Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic...	OMIM:182250
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ...	ORPHA:217093
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Bicuspid aortic valve, Down-sloping shoulders, Kyphoscoliosis, ...	OMIM:309800
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm...	ORPHA:667
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria	OMIM:603903
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the d...	ORPHA:83617
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Pagod Syndrome	Abnormal clavicle morphology, Multicystic kidney dysplasia, Situs inversus totalis, Abnormal rib ...	ORPHA:991
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ...	ORPHA:2232
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe	Renal insufficiency, Proteinuria, Micrognathia, Kyphosis, Abnormal rib morphology, Proximal renal...	ORPHA:534
Bohring-Opitz Syndrome	Micrognathia, Pectus excavatum, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retenti...	ORPHA:97297
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology...	ORPHA:2908
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ...	ORPHA:1662
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Patent foramen ovale, Small hand, Horseshoe...	ORPHA:444077
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pectus excavatum, Hepatosplenomegaly	OMIM:618278
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Abetalipoproteinemia	Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Talipes equinovarus, Distal lower limb muscle weaknes...	ORPHA:14
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Branchiooculofacial Syndrome	Hypospadias, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Shor...	OMIM:113620
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Cardiomegaly, Pericardial ef...	ORPHA:51608
Absence Of The Pulmonary Artery	Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial ...	ORPHA:980
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Multiple rib fractures, Femur fracture, Hepatomegaly	OMIM:612301
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypospadias, Short neck, Secundum atrial septal defect, Hyp...	OMIM:264090
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abnormal long bone morphology, Abnormality of the vertebral co...	ORPHA:228123
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Aicardi-Goutières Syndrome	Cardiomegaly, Hepatosplenomegaly, Micropenis, Scoliosis, Hypertrophic cardiomyopathy	ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom...	OMIM:256040
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly	ORPHA:137675
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Micrognathia, Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, R...	ORPHA:2785
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Micrognathia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Micr...	OMIM:619991
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280

Histopathology

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

There is no histopathology data for Brinp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Brinp3.

No publications found that use IMPC mice or data for Brinp3.

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MGI Allele	Allele Type	Produced
Brinp3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Brinp3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Brinp3^{tm42551(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Brinp3 MGI:2443035

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Brinp3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data