Gene: Arsb MGI:88075

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

arylsulfatase B

Synonyms:

As-1, Ast-1, As1, 1110007C02Rik, As-1s, As1-s, As-1r, As-1t, As1-t, As1-r, Asr-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Arsb 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 Arsb (1 diseases)
Human diseases predicted to be associated with Arsb (1805 diseases)

The table below shows human diseases associated to Arsb by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis, Type Vi		Hypoplasia of the odontoid process, Depressed nasal bridge, Hypoplastic iliac wing, Metaphyseal w...	OMIM:253200

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

Disease	Matching phenotypes	Source
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Metaphyseal Anadysplasia 2	Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs	OMIM:613073
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Syndactyly Type 4	Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi...	ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Short humerus, Short femur, Epiphyseal stippling	OMIM:600121
Tibial Torsion, Bilateral Medial	Abnormality of tibia morphology, Tibial torsion, Bowing of the legs	OMIM:188800
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E...	ORPHA:1986
Rhizomelic Dysplasia, Ain-Naz Type	Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ...	OMIM:619598
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Pseudoarthrosis, Hypoplasia of the radius, Short tibia	OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia	OMIM:246570
Genu Valgum, St. Helena Familial	Genu valgum	OMIM:137370
Acromesomelic Dysplasia 2A	Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat...	OMIM:200700
Acromesomelic Dysplasia 2C	Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula...	OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp...	OMIM:118651
Blount Disease	Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality...	ORPHA:2768
Tibial Hemimelia	Absent tibia	OMIM:275220
Langer Mesomelic Dysplasia	Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u...	OMIM:249700
Osebold-Remondini Syndrome	Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas...	OMIM:112910
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m...	OMIM:615373
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ...	OMIM:147891
Acromesomelic Dysplasia, Grebe Type	Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,...	ORPHA:2098
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Fibula, Recurrent Dislocation Of Head Of	Abnormality of fibula morphology	OMIM:135800
Tibia, Absence Of, With Congenital Deafness	Absent tibia	OMIM:275230
Acheiropody	Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A...	OMIM:200500
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin...	OMIM:605274
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Polydactyly	OMIM:188740
Mitral Valve Prolapse 3	Mitral valve prolapse, Mitral regurgitation	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse, Mitral regurgitation	OMIM:607829
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis...	OMIM:601376
Tibial Aplasia-Ectrodactyly Syndrome	Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h...	ORPHA:3329
Kniest Dysplasia	Aplasia/hypoplasia of the extremities, Short thorax, Short long bone, Depressed nasal bridge, Del...	ORPHA:485
Hypochondroplasia	Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Frontal bossing, Macrocephal...	OMIM:146000
Lethal Faciocardiomelic Dysplasia	Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho...	ORPHA:1972
Acrocephalopolydactyly	Thoracic hypoplasia, Depressed nasal ridge, Limb undergrowth, Short nose, Oxycephaly, Genu recurv...	ORPHA:221054
Left Ventricular Noncompaction 1	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi...	OMIM:604169
Mucopolysaccharidosis Type 4	Carious teeth, Mucopolysacchariduria, Pectus carinatum, Abnormality of epiphysis morphology, Bowi...	ORPHA:582
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Neutropenia, Short thorax, Limited elbow extension, Anteverted nares, Abno...	ORPHA:175
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand	OMIM:228250
Mucopolysaccharidosis, Type Iva	Carious teeth, Epiphyseal deformities of tubular bones, Hypoplasia of the odontoid process, Cervi...	OMIM:253000
Cardiomyopathy, Dilated, 1Kk	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V...	OMIM:615248
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Depressed nasal bridge, Hypoplastic iliac wing, Metaphyseal w...	OMIM:253200
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous...	OMIM:275595
Multiple Epiphyseal Dysplasia With Robin Phenotype	Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e...	OMIM:601560
Dyschondrosteosis And Nephritis	Radial bowing, Ulnar bowing, Short forearm, Short tibia	OMIM:127350
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Atrial fibrillation, Mitral regurgitation, Left atrial enlargement	OMIM:617047
Loeffler Endocarditis	Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ...	ORPHA:75566
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib...	ORPHA:988
Laurin-Sandrow Syndrome	Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo...	OMIM:135750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ...	OMIM:609324
Mucopolysaccharidosis Type 6	Sinusitis, Mucopolysacchariduria, Failure to thrive, Epiphyseal dysplasia, Abnormality of the met...	ORPHA:583
Weill-Marchesani Syndrome	Ventricular septal defect, Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aor...	ORPHA:3449
Leri-Weill Dyschondrosteosis	Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat...	OMIM:127300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Depressed nasal bridge, Mandibular prognathia, Facial diplegia, Hypertelorism, Dia...	OMIM:122860
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short...	OMIM:612447
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia	OMIM:615916
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation, Short c...	OMIM:314400
Sclerosteosis	Optic atrophy, Diaphyseal thickening, Facial palsy, Abnormal cortical bone morphology, Finger syn...	ORPHA:3152
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati...	ORPHA:3332
Atelosteogenesis, Type Ii	Flat acetabular roof, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, ...	OMIM:256050
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Craniodiaphyseal Dysplasia	Diaphyseal thickening, Depressed nasal bridge, Wide nasal bridge, Frontal bossing, Craniofacial h...	ORPHA:1513
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,...	OMIM:616201
Otopalatodigital Syndrome Type 1	Depressed nasal bridge, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, ...	ORPHA:90650
Achard Syndrome	Micrognathia, Arachnodactyly, Broad skull, Brachycephaly	OMIM:100700
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
17Q21.31 Microduplication Syndrome	Toe syndactyly, Micrognathia, Failure to thrive, Short nose, Malar flattening, Sandal gap, Anteve...	ORPHA:217340
Mucopolysaccharidosis, Type Ivb	Carious teeth, Epiphyseal deformities of tubular bones, Hypoplasia of the odontoid process, Cervi...	OMIM:253010
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Metaphyseal widening, Short nose, Malar flattening, Short ribs...	OMIM:614524
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon...	OMIM:617719
Spondylometaphyseal Dysplasia, Type A4	Broad ischia, Pectus carinatum, Metaphyseal widening, Narrow greater sciatic notch, Metaphyseal i...	OMIM:609052
Spondylometaphyseal Dysplasia, East African Type	Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Bell-shaped thorax, Short long bo...	OMIM:611702
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation	OMIM:615184
Epiphyseal Dysplasia, Multiple, 5	Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy...	OMIM:607078
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper...	OMIM:619371
Mucolipidosis Ii Alpha/Beta	Talipes equinovarus, Splenomegaly, Anteverted nares, Short long bone, Flat acetabular roof, Carpa...	OMIM:252500
Brachydactyly Type A2	Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short...	ORPHA:93396
Chondrodysplasia Calcificans Metaphysealis	Mucopolysacchariduria, Metaphyseal dysplasia, Metaphyseal chondrodysplasia	OMIM:215050
Mitral Valve Prolapse 1	Mitral valve prolapse, Mitral regurgitation	OMIM:157700
Spondyloepimetaphyseal Dysplasia, Missouri Type	Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i...	ORPHA:93356
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arthritis, Abnormality of metat...	ORPHA:564003
Osteolysis Syndrome, Recessive	Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ...	OMIM:259610
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ...	OMIM:113310
Oculoskeletodental Syndrome	Thoracic hypoplasia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Abnormal s...	OMIM:618440
Endove Syndrome, Limb-Only Type	Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d...	OMIM:619217
Chromosome 16P13.3 Duplication Syndrome	Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe, Proximal placement of thum...	OMIM:613458
Léri-Weill Dyschondrosteosis	Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm...	ORPHA:240
Fixed Subaortic Stenosis	Syncope, Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Mitral regurgi...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic 27	Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation	OMIM:618052
Mental Retardation, X-Linked 91	Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Obesity, Clinodactyly	OMIM:300577
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact...	ORPHA:3268
Familial Dilated Cardiomyopathy	Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio...	ORPHA:217607
Spondylometaphyseal Dysplasia, Corner Fracture Type	Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p...	OMIM:184255
Mucopolysaccharidoses, Unclassified Types	Progressive joint destruction, Mucopolysacchariduria, Finger swelling	OMIM:252700
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Genu varum, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Ir...	OMIM:609325
Mucopolysaccharidosis Type 1	Sinusitis, Mucopolysacchariduria, Depressed nasal bridge, Thick nasal alae, Abnormality of epiphy...	ORPHA:579
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Hypertelorism, Facial palsy, Broad jaw, Craniosynostosis, Hearing impairment, Incr...	ORPHA:178377
Optic Atrophy 8	Mitral valve prolapse, Mitral regurgitation	OMIM:616648
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation	OMIM:611878
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma...	ORPHA:2779
Brachymetatarsus Iv	Short fourth metatarsal, Short 4th toe	OMIM:113475
Partial Atrioventricular Septal Defect	Syncope, Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Mi...	ORPHA:1330
Odontochondrodysplasia	Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ...	ORPHA:166272
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Diastrophic Dysplasia	Overfolded helix, Symphalangism affecting the phalanges of the hand, Proximal placement of thumb,...	ORPHA:628
Codas Syndrome	Hypoplasia of the odontoid process, Metaphyseal dysplasia, Depressed nasal bridge, Proximal place...	OMIM:600373
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Depressed nasal bridge, Postaxial polydactyly, Short metatarsal, Limb undergrowth,...	OMIM:617102
Pycnodysostosis	Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Abnormality of ...	OMIM:265800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Long thorax, Micrognathia, Convex nasal ridge, Mesomelia, Brachydactyly, Abnormal shoulder morpho...	ORPHA:1277
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Large fontanelles, Small for gestational age, Short long bone, Wide nose,...	OMIM:613320
Atelosteogenesis, Type Iii	Knee dislocation, Tibial bowing, Radial bowing, Midface retrusion, Talipes equinovarus, Micrognat...	OMIM:108721
Metaphyseal Chondrodysplasia, Schmid Type	Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe...	ORPHA:174
Hurler Syndrome	Mucopolysacchariduria, Depressed nasal bridge, Abnormality of the elbow, Abnormality of epiphysis...	ORPHA:93473
Grant Syndrome	Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Large fontanelles, Brachy...	ORPHA:2097
Short Stature, Brussels Type	Horseshoe kidney, Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Macr...	ORPHA:2867
Metaphyseal Chondrodysplasia, Schmid Type	Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu...	OMIM:156500
Kyphomelic Dysplasia	Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,...	ORPHA:1801
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t...	OMIM:119100
Simpson-Golabi-Behmel Syndrome, Type 2	Broad palm, Talipes equinovarus, Tapered finger, Short finger, Wide nose, Short nose, Congenital ...	OMIM:300209
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Reduced arm span, Genu varum, Arthralgia of the hip, Abnormality of the knee, Fragmentation of th...	ORPHA:166002
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Hypertelorism, Short no...	ORPHA:1529
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhi...	OMIM:300863
Acheiropodia	Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met...	ORPHA:931
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormality of pelvic girdle bone morphology, Abnormality of long bone morphology, Short toe, Sho...	OMIM:259270
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Hyperostosis Corticalis Generalisata	Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Facial palsy, Abnormal ...	ORPHA:3416
Weill-Marchesani Syndrome 1	Broad metatarsal, Broad palm, Depressed nasal bridge, Brachycephaly, Broad phalanges of the hand,...	OMIM:277600
Jeune Syndrome	Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,...	ORPHA:474
Cardiomyopathy, Familial Hypertrophic, 28	Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial...	OMIM:619402
Isolated Osteopoikilosis	Keloids, Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bo...	ORPHA:166119
Lethal Kniest-Like Dysplasia	Broad long bones, Abnormal cartilage matrix, Anterior rib cupping, Talipes equinovarus, Hypoplast...	ORPHA:2347
Mucopolysaccharidosis, Type Vii	Metatarsus adductus, Talipes equinovarus, Pectus carinatum, Genu valgum, Splenomegaly, Thoracolum...	OMIM:253220
Fibular Aplasia-Ectrodactyly Syndrome	Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand	ORPHA:1118
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Micrognathia, Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morphology, Bowing of...	ORPHA:93267
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Convex nasal ridge, Brachycephaly, Craniosynostosis, Malar flattening, Short nose, ...	ORPHA:2145
Marfanoid Hypermobility Syndrome	Mitral regurgitation, Aortic regurgitation, Ocular anterior segment dysgenesis, Ectopia lentis	OMIM:154750
Metaphyseal Acroscyphodysplasia	Abnormal diaphysis morphology, Depressed nasal ridge, Genu varum, Abnormality of femur morphology...	ORPHA:1240
Achondroplasia	Short middle phalanx of finger, Limited elbow extension, Anteverted nares, Trident hand, Short lo...	ORPHA:15
Multiple Metaphyseal Dysplasia	Depressed nasal ridge, Aplasia/Hypoplasia of the thumb, Abnormality of epiphysis morphology, Broa...	ORPHA:93430
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes equinovarus, Epiphyseal d...	OMIM:226900
Acrocapitofemoral Dysplasia	Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Coxa vara, C...	ORPHA:63446
Cortical Blindness, Retardation, And Postaxial Polydactyly	Frontal bossing, Microretrognathia, Short nose	OMIM:218010
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Brachycephaly, Short nose, Wormian bones, Wide nasal bridge, Parietal ...	OMIM:601224
Endosteal Hyperostosis, Worth Type	Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Facial palsy, Abnormal ...	ORPHA:2790
Craniosynostosis And Dental Anomalies	Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary...	OMIM:614188
Pseudoachondroplasia	Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ...	ORPHA:750
Mueller-Weiss Syndrome	Abnormality of the os naviculare pedis, Sclerosis of foot bone, Limitation of movement at ankles,...	ORPHA:566943
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Short nose, Deviation of finger, Frontal bossing, Ante...	ORPHA:1450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh...	ORPHA:440354
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation	ORPHA:83473
Opsismodysplasia	Short nose, Anteverted nares, Short long bone, Flat acetabular roof, Anterior rib cupping, Depres...	OMIM:258480
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the...	ORPHA:1842
Spondyloepiphyseal Dysplasia, Nishimura Type	Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Oligosacchari...	ORPHA:163649
Craniofacial Dysostosis With Diaphyseal Hyperplasia	Pectus excavatum, Brachycephaly, Limb undergrowth, Microcephaly, Thin calvarium, Massively thicke...	OMIM:122900
Acrodysostosis	Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Delayed eruption of ...	ORPHA:950
Brachydactyly-Syndactyly, Zhao Type	Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect...	ORPHA:93409
Frontonasal Dysplasia 1	Conductive hearing impairment, Frontal cutaneous lipoma, Broad nasal tip, Hypoplastic frontal sin...	OMIM:136760
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Toe syndactyly, Micrognathia, Renal agenesis, Renal hypoplasia, Depressed nasal brid...	ORPHA:171839
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Metatarsal osteolysis, Micrognathia, Ulnar deviation of the hand, Ulnar deviation...	OMIM:166300
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation	OMIM:225320
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral valve prolapse, Mitral regurgitation	OMIM:173900
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal...	ORPHA:563
Acromesomelic Dysplasia 2B	Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S...	OMIM:228900
Orofaciodigital Syndrome Type 10	Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal...	ORPHA:2756
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Hypertelorism...	OMIM:122880
Fibrochondrogenesis 1	Broad ischia, Short nose, Malar flattening, Joint contracture of the hand, Short ribs, Camptodact...	OMIM:228520
Jackson-Weiss Syndrome	Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Convex nasal ridge, M...	ORPHA:1540
Multiple Sulfatase Deficiency	Broad hallux phalanx, Mucopolysacchariduria, Depressed nasal bridge, Splenomegaly, Macrocephaly, ...	ORPHA:585
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Flat acetabular roof, Irregular epiphyses, Small epiphyses, Thoracic hypoplasia, Bowing of the le...	OMIM:608728
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Short nose, Small hand, Delayed epiphyseal ossification, Midface retrusion...	OMIM:618618
Weill-Marchesani Syndrome 2	Broad metatarsal, Broad palm, Depressed nasal bridge, Flexion contracture of toe, Short finger, B...	OMIM:608328
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Pectus excavatum, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Large il...	ORPHA:2511
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Broad palm, Rhizomelia, Short foot, Short metacarpal, Narrow chest, Mesomelia, Postaxial hand pol...	OMIM:611263
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle...	ORPHA:85170
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Short nose, Hip dysplasia, Narrow nasal bridge, Midface retrusion, Microcephaly	OMIM:618379
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Long thorax, Small for gestational age, Failure to thrive, Cubitus valgus, Slender build, Disharm...	OMIM:608154
Achondrogenesis Type 1B	Micrognathia, Talipes equinovarus, Short nose, Short thorax, Frontal bossing, Short foot, Macroce...	ORPHA:93298
Autosomal Recessive Omodysplasia	Micrognathia, Abnormality of femur morphology, Depressed nasal bridge, Rhizomelia, Craniosynostos...	ORPHA:93329
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Hypospadias, 2-3 toe syndactyly, Hydronephrosis, Underdeveloped nasal alae, Ro...	ORPHA:163979
Gm1 Gangliosidosis Type 1	Flattened femoral head, Broad nasal tip, Thickened calvaria, Depressed nasal bridge, Pectus carin...	ORPHA:79255
Osteogenesis Imperfecta, Type Ii	Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Large fontanelles, Small for ges...	OMIM:166210
Osteomesopyknosis	Infertility, Increased bone mineral density	OMIM:166450
Mosaic Trisomy 14	Hypospadias, Micrognathia, Failure to thrive, Prominent nasal bridge, Wide nasal bridge, Frontal ...	ORPHA:1703
Opsismodysplasia	Flat occiput, Pectus excavatum, Depressed nasal bridge, Large fontanelles, Tapered finger, Abnorm...	ORPHA:2746
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy	OMIM:121820
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,...	OMIM:183849
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg...	ORPHA:75249
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Macrocephaly, Narrow chest, Hypopla...	OMIM:151210
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacarpal, Patellar ...	OMIM:614078
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ...	OMIM:228930
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Low-set, posteriorly rotated ears, Abnormality of the metaphysis, Reduced bone minera...	ORPHA:2370
Camurati-Engelmann Disease, Type 2	Mitral valve prolapse, Mitral regurgitation	OMIM:606631
Mucopolysaccharidosis Type 7	Metatarsus adductus, Mucopolysacchariduria, Diaphyseal thickening, Epiphyseal stippling, Splenome...	ORPHA:584
Autosomal Dominant Omodysplasia	Micrognathia, Depressed nasal bridge, Rhizomelia, Short nose, Malar flattening, Frontal bossing, ...	ORPHA:93328
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma...	ORPHA:1802
Short Stature-Obesity Syndrome	Micrognathia, Narrow nose, Limb undergrowth, Prominent nasal bridge, Obesity, Clinodactyly of the...	OMIM:269870
Maxillonasal Dysplasia	Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short columella, Short nose...	ORPHA:1248
Metaphyseal Acroscyphodysplasia	Genu varum, Malar flattening, Short toe, Short humerus, Anteverted nares, Short phalanx of finger...	OMIM:250215
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse	OMIM:614676
Orofaciodigital Syndrome Viii	Syndactyly, Polydactyly, Short tibia	OMIM:300484
Hyperphosphatasia With Mental Retardation Syndrome 6	Large earlobe, Prominent nasal tip, 2-3 toe syndactyly, Depressed nasal bridge, Hip contracture, ...	OMIM:616809
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi	OMIM:166700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormal joint morphology, P...	ORPHA:93351
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Polydactyly, Small for gestational age, Abnormal thorax morphology, Syndactyly, U...	ORPHA:294975
Desbuquois Dysplasia 1	Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Malar ...	OMIM:251450
Non-Distal Trisomy 10Q	Micrognathia, Pectus excavatum, Depressed nasal bridge, Convex nasal ridge, Brachycephaly, Abnorm...	ORPHA:1695
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Split hand, Splenomegaly, Scaphocephaly, Macrocephaly, Urinary glycosa...	OMIM:309900
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger...	OMIM:112450
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ...	OMIM:250460
Flynn-Aird Syndrome	Carious teeth, Increased bone density with cystic changes, Osteoporosis, Ataxia, Increased bone m...	OMIM:136300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Metaphyseal widening, Limb undergrowth, Short nose, Short ribs, Coarse me...	OMIM:618961
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Greenberg Dysplasia	Micrognathia, Abnormal pelvis bone ossification, Anterior rib punctate calcifications, Rhizomelia...	ORPHA:1426
Craniometaphyseal Dysplasia	Conductive hearing impairment, Abnormal cranial nerve morphology, Depressed nasal bridge, Osteope...	ORPHA:1522
Tibial Hemimelia	Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip...	ORPHA:93322
Achondrogenesis Type 1A	Micrognathia, Multiple rib fractures, Short nose, Short thorax, Frontal bossing, Short foot, Macr...	ORPHA:93299
Lethal Recessive Chondrodysplasia	Micrognathia, Flared elbow metaphyses, Macroglossia, Limb undergrowth, Generalized osteosclerosis...	ORPHA:1423
Langer Mesomelic Dysplasia	Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o...	ORPHA:2632
Mesomelic Limb Shortening And Bowing	Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty...	OMIM:249710
Dyssegmental Dysplasia With Glaucoma	Broad long bones, Malar flattening, Delayed epiphyseal ossification, Flared metaphysis, Wide ante...	OMIM:601561
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Depressed nasal bridge, Cone-shaped epiphysis, Mandibular prognathia, Short metatars...	OMIM:614613
Cardiospondylocarpofacial Syndrome	Mitral valve prolapse, Mitral regurgitation	ORPHA:3238
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Dense calvaria, Splenomegaly, Recurrent upper respiratory tract infections, Hepar...	OMIM:252900
Atelosteogenesis, Type I	Distal tapering femur, Talipes equinovarus, Short metatarsal, Short nose, Malar flattening, Elbow...	OMIM:108720
Robinow Syndrome, Autosomal Dominant 2	Micrognathia, Thickened calvaria, Midface retrusion, Depressed nasal bridge, Short nose, Frontal ...	OMIM:616331
Diastrophic Dysplasia	Costal cartilage calcification, Irregular epiphyses, Laryngotracheal stenosis, Talipes equinovaru...	OMIM:222600
Odontochondrodysplasia 1	Genu varum, Genu recurvatum, Delayed eruption of teeth, Short long bone, Flat acetabular roof, Sh...	OMIM:184260
Thoracomelic Dysplasia	Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morphology, Abnormalit...	ORPHA:1803
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri...	ORPHA:324410
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Depressed nasal bridge, Splenomegaly, Frontal bossing, Recurrent upper respirator...	OMIM:252940
Hurler-Scheie Syndrome	Pulmonary arterial hypertension, Aortic regurgitation, Corneal opacity, Mitral regurgitation	OMIM:607015
Adenylosuccinate Lyase Deficiency	Flat occiput, Brachycephaly, Short nose, Anteverted nares, Prominent metopic ridge, Microcephaly	ORPHA:46
Dysostosis, Stanescu Type	Carious teeth, Pectus excavatum, Convex nasal ridge, Brachycephaly, Abnormality of epiphysis morp...	ORPHA:1798
Robinow Syndrome, Autosomal Recessive 2	Omphalocele, Micrognathia, Broad nasal tip, Hypertelorism, Short nose, Posteriorly rotated ears, ...	OMIM:618529
Corneal Hypesthesia, Familial	Recurrent corneal erosions, Decreased corneal sensation	OMIM:122450
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath...	OMIM:619424
Heart-Hand Syndrome Type 2	Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th...	ORPHA:1350
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,...	ORPHA:85188
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Malar flattening, Broad palm, Small epiphyses, Anterior rib cupping, Depressed nasal bridge, Meta...	OMIM:300232
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	C1-C2 subluxation, Epiphyseal stippling, Short nose, Long fibula, Malar flattening, Short ribs, H...	OMIM:271665
Pierpont Syndrome	Broad palm, Broad nasal tip, Short finger, Brachycephaly, Failure to thrive, Wide nose, Short nos...	OMIM:602342
Pallister-Hall-Like Syndrome	Micrognathia, Depressed nasal bridge, Renal dysplasia, Short nose, Short ribs, Hip dislocation, M...	OMIM:241800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, 2-3 toe syndactyly, Skeletal muscle atrophy, Tapered f...	OMIM:218000
3M Syndrome	Hypospadias, Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Bulbous ...	ORPHA:2616
Pde4D Haploinsufficiency Syndrome	Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose...	ORPHA:439822
Diamond-Blackfan Anemia 6	Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ...	OMIM:612561
Autosomal Recessive Distal Osteolysis Syndrome	Midface retrusion, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of finger	ORPHA:2776
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Dense calvaria, Splenomegaly, Recurrent upper respiratory tract infections, Dolic...	OMIM:252930
Premature Aging Syndrome, Penttinen Type	Micrognathia, Narrow nose, Midface retrusion, Wormian bones, Delayed eruption of teeth, Prominent...	OMIM:601812
Distal Trisomy 18Q	Carious teeth, Micrognathia, Pectus excavatum, Large hands, Short nose, Arachnodactyly, Prominent...	ORPHA:1716
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Hallux valgus, Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Brachy...	ORPHA:1327
Ollier Disease	Anemia, Abnormality of the metaphysis, Abnormal cartilage morphology, Micromelia, Multiple enchon...	ORPHA:296
Hypophosphatasia, Childhood	Carious teeth, Elevated urine pyrophosphate, Bowing of the legs, Craniosynostosis, Frontal bossin...	OMIM:241510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Micrognathia, Abnormality of the calcaneus, Thin ribs, Hypoplastic iliac w...	ORPHA:163966
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Ring Dermoid Of Cornea	Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun...	OMIM:180550
Hurler Syndrome	C1-C2 subluxation, Hypoplasia of the odontoid process, Short clavicles, Diaphyseal thickening, De...	OMIM:607014
Osteoglophonic Dysplasia	Hypospadias, Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Short nose, Malar flattening, A...	OMIM:166250
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p...	OMIM:201170
Acromicric Dysplasia	Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp...	ORPHA:969
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Thoracic hypoplasia, Small epiphyses, Knee dislocation, Microretrognathia, Microgn...	OMIM:618363
Terminal Osseous Dysplasia	Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Hyperteloris...	OMIM:300244
Tako-Tsubo Cardiomyopathy	Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out...	ORPHA:66529
Antley-Bixler Syndrome	Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Hypoplasia of the zygomatic...	ORPHA:83
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Dense calvaria, Splenomegaly, Recurrent upper respiratory tract infections, Hepar...	OMIM:252920
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Micrognathia, Large fontanelles, Mandibular aplasia, Short nose, Retrognat...	ORPHA:1832
Acromesomelic Dysplasia, Maroteaux Type	Depressed nasal bridge, Bowing of the long bones, Acromesomelia, Frontal bossing, Sprengel anomal...	ORPHA:40
Cardioacrofacial Dysplasia 1	Long thorax, Midface retrusion, Postaxial polydactyly, Limb undergrowth, Genu valgum, Overhanging...	OMIM:619142
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab...	ORPHA:2631
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi...	OMIM:614980
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Thoracic hypoplasia, Horizontal ribs, Relative macrocephaly, Depressed nasal bridge, Midface retr...	OMIM:617895
Femoral-Facial Syndrome	Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab...	ORPHA:1988
Dyggve-Melchior-Clausen Disease	Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Short thorax, Iliac crest se...	ORPHA:239
Otopalatodigital Syndrome, Type I	Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, Malar flattenin...	OMIM:311300
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Short iliac bones, Pectus carinatum, Short long bone, ...	OMIM:271530
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se...	ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi...	ORPHA:99103
17P13.3 Microduplication Syndrome	Wide nose, Short nose, Congenital hip dislocation, Frontal bossing, Clinodactyly of the 5th finge...	ORPHA:217385
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extens...	ORPHA:156728
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Micrognathia, Hydronephrosis, Thin ribs, Trigonocephaly, Craniosynostosis, Vesicou...	OMIM:618265
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Short nose, Wide nasal bridge, Uni...	OMIM:618577
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Depressed nasal bridge, Polydactyly, Postaxial polydactyly, Hypertelorism, Ma...	OMIM:615984
Chondrodysplasia, Blomstrand Type	Micrognathia, Generalized osteosclerosis, Malar flattening, Short ribs, Advanced ossification of ...	OMIM:215045
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Small for gestational age,...	OMIM:215250
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Mitral valve prolapse, Patent foramen ovale, Mitral regurgitation	OMIM:615539
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Micrognathia, Depressed nasal bridge, Hypertelorism, Low-set, posteriorly rotated...	ORPHA:261120
Summitt Syndrome	Plagiocephaly, Depressed nasal ridge, Wide nose, Craniosynostosis, Finger syndactyly, Genu valgum...	ORPHA:3210
Al-Raqad Syndrome	Short nose, Deeply set eye, Sandal gap, Inability to walk, Unsteady gait, Brachydactyly, Joint la...	OMIM:616459
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Mandibular prognathia, Rhizomelia, Wide nose, Short nose, Genu valgum, Dev...	ORPHA:2831
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Prominent nose, Depressed nasal bridge, Mandibular prognathia, Malar flattening, Abnormal dental ...	ORPHA:2180
Ophthalmomandibulomelic Dysplasia	Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the...	ORPHA:2741
Keipert Syndrome	Short hallux, Broad hallux phalanx, Depressed nasal bridge, Broad thumb, Hypertelorism, Broad dis...	ORPHA:2662
Eiken Syndrome	Short middle phalanx of finger, Pseudoepiphyses, Long hallux, Type A1 brachydactyly, Decreased bo...	OMIM:600002
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet...	ORPHA:93316
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Mitral regurgitation	OMIM:300280
Pfeiffer Syndrome	Brachyturricephaly, Elbow ankylosis, Depressed nasal bridge, Cloverleaf skull, Choanal stenosis, ...	OMIM:101600
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Depressed nasal bridge, Large fontanelles, Failure to thrive, Rhizomelia, Wide nasa...	OMIM:222765
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar...	OMIM:601382
Ruvalcaba Syndrome	Abnormality of vertebral epiphysis morphology, Convex nasal ridge, Cone-shaped epiphysis, Abnorma...	ORPHA:3121
Craniodigital-Intellectual Disability Syndrome	Micrognathia, Brachycephaly, Short nose, Finger syndactyly, Narrow nasal bridge, Spina bifida occ...	ORPHA:1514
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Short nose, Short ribs, Micropenis, Anteverted nares, Short femur, Micrognathia, Dec...	OMIM:616897
Pycnodysostosis	Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Hypoplasia of the maxill...	ORPHA:763
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Splenomegaly, Broad hallux, Hypoplastic vertebral bodies, Anteverted nares...	OMIM:272200
Miller-Dieker Syndrome	Omphalocele, Short nose, Ataxia, EEG abnormality, Anteverted nares, Clinodactyly of the 5th finge...	ORPHA:531
Atelosteogenesis Type Ii	Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc...	ORPHA:56304
Prieto X-Linked Mental Retardation Syndrome	Prominent nose, Talipes equinovarus, Hypertelorism, Osteoporosis, Radial deviation of finger, 11 ...	OMIM:309610
Metaphyseal Chondrodysplasia, Kaitila Type	Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy...	OMIM:250230
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Nephrocalcinosis, Narrow chest, Be...	OMIM:615633
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Frontal bossing, Macrocephaly, Slender long bone, Abnormal rib morphology, Abnormality of pelvic ...	ORPHA:1506
Schneckenbecken Dysplasia	Anterior rib cupping, Midface retrusion, Hypoplastic scapulae, Lateral clavicle hook, Metaphyseal...	OMIM:269250
Grant Syndrome	Down-sloping shoulders, Micrognathia, Tibial bowing	OMIM:138930
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Short femur, Foot oligodactyly	OMIM:601357
Temtamy Preaxial Brachydactyly Syndrome	Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Shor...	ORPHA:363417
Eiken Syndrome	Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi...	ORPHA:79106
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, 2-3 toe syndactyly, Tapered finger, Short nose, Macrotia, Attention deficit hyperac...	OMIM:617061
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Talipes equinovarus, Tapered finger, Prominent nasal bridge, Camptodactyly of finger, Short palm,...	ORPHA:85279
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Mitral valve prolapse, Mitral regurgitation, Myopic astigmatism, Aortic ...	ORPHA:230851
Kniest Dysplasia	Depressed nasal bridge, Midface retrusion, Flattened, squared-off epiphyses of tubular bones, Mal...	OMIM:156550
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Depressed nasal bridge, Short nose, Hypertelorism, Macrotia, Inability to walk	ORPHA:438178
Epiphyseal Dysplasia, Baumann Type	Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation...	OMIM:610797
Hypochondroplasia	Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ...	ORPHA:429
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short 5th metacarpal, Convex nasal ridge, Short middle phalanx of the 5th ...	OMIM:156510
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Pectus carinatum, Malar flattening, Wide nasal brid...	ORPHA:261295
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Irregular epiphyses, Relative macrocephaly, Midface retrusion, Absent nasal bridge, Short finger,...	OMIM:612813
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Gait disturbance, Ulnar deviation of finger, Decreased nerve conduction velocity, Camptodactyly o...	ORPHA:2928
Monosomy 5P	Abnormality of bone mineral density, Hypertelorism, Low-set, posteriorly rotated ears, Small hand...	ORPHA:281
Fibular Aplasia-Complex Brachydactyly Syndrome	Tarsal synostosis, Abnormality of the ulna, Abnormality of epiphysis morphology, Synostosis of ca...	ORPHA:2639
Ruvalcaba Syndrome	Underdeveloped nasal alae, Narrow nose, Short metatarsal, Small hand, Short metacarpal, Short foo...	OMIM:180870
Acrocraniofacial Dysostosis	Conductive hearing impairment, Micrognathia, Abnormal auditory evoked potentials, Metatarsus addu...	OMIM:201050
Laron Syndrome	Limb undergrowth, Short long bone, Abnormal joint morphology	OMIM:262500
Mucopolysaccharidosis Type 3	Mucopolysacchariduria, Thick nasal alae, Avascular necrosis of the capital femoral epiphysis, Abn...	ORPHA:581
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Short nose, Hypertelorism, Retrognathia, Anteverted nares	OMIM:614069
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc...	OMIM:155050
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Carious teeth, Thin ribs, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, Wo...	OMIM:604922
Weismann-Netter Syndrome	Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal...	ORPHA:3344
Three M Syndrome 2	Prominent nasal tip, Depressed nasal bridge, Thin ribs, Pectus carinatum, Small for gestational a...	OMIM:612921
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Dyssegmental Dysplasia, Silverman-Handmaker Type	Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Bowing of the long bones, Malar flattenin...	OMIM:224410
Metatropic Dysplasia	Long thorax, Depressed nasal bridge, Abnormality of the metaphysis, Coarse metaphyseal trabecular...	ORPHA:2635
Dentin Dysplasia	Abnormal dental enamel morphology, Increased bone mineral density	ORPHA:1653
Van Den Ende-Gupta Syndrome	Hallux valgus, Talipes equinovarus, Malar flattening, Joint contracture of the hand, Long hallux,...	OMIM:600920
Cleidocranial Dysplasia	Sinusitis, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormali...	ORPHA:1452
Image Syndrome	Hypospadias, Hydronephrosis, Metaphyseal dysplasia, Depressed nasal bridge, Frontal bossing, Micr...	ORPHA:85173
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati...	OMIM:616564
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Premature ovarian insufficiency	ORPHA:75325
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Tibial bowing, Fibular bowing, Abnormal joint morphology, Depressed nasal bridge, L...	ORPHA:1427
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mitral regurgitation, Aniridia, Corneal dystrophy, Tricuspid regurgitation, Tricuspid valve prola...	ORPHA:1101
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Mitral valve prolapse, Cardiomyopathy, Mitral regurgitation	OMIM:258450
Lujan-Fryns Syndrome	Micrognathia, Pectus excavatum, Brachycephaly, Arachnodactyly, Prominent nasal bridge, Macrocepha...	ORPHA:776
Cutis Laxa, Autosomal Dominant 2	Mitral regurgitation	OMIM:614434
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Spurred m...	ORPHA:93284
Aarskog-Scott Syndrome	Broad palm, Abnormal vertebral segmentation and fusion, Hypertelorism, Low-set, posteriorly rotat...	ORPHA:915
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Underdeveloped nasal alae, Micrognathia, Broa...	OMIM:257850
Greenberg Dysplasia	Epiphyseal stippling, Malar flattening, Short ribs, 11 pairs of ribs, Hepatosplenomegaly, Abnorma...	OMIM:215140
Harel-Yoon Syndrome	Optic atrophy, Micrognathia, Cerebellar atrophy, Mandibular prognathia, Short nose, Ataxia, Inabi...	OMIM:617183
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular...	OMIM:614022
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Depressed nasal bridge, Hypertelorism, Short nose, Wide nasal bridge, Cerebra...	OMIM:616430
Melorheostosis	Skeletal muscle atrophy, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Upper li...	ORPHA:2485
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri...	OMIM:602557
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short nose, Low-set, posteriorly rotated ears	ORPHA:2015
Mental Retardation With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Short nose, Malar flattening, Macrocephaly, Retrog...	OMIM:613670
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Osteoarthritis, Avascular necr...	ORPHA:93308
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Cuppe...	OMIM:609616
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Micrognathia, Pectus carinat...	ORPHA:3082
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli, Hypoplasia of the ...	OMIM:259600
Rhizomelic Dysplasia, Patterson-Lowry Type	Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,...	OMIM:601438
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ...	ORPHA:1509
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Pentasomy X	Plagiocephaly, Micrognathia, Small hand, Wide nasal bridge, Short foot, Hip dysplasia, Camptodact...	ORPHA:11
Thanatophoric Dysplasia	Abnormal ilium morphology, Depressed nasal bridge, Cloverleaf skull, Abnormal sacroiliac joint mo...	ORPHA:2655
Mesomelic Dysplasia, Nievergelt Type	Tarsal synostosis, Abnormality of the ulna, Genu varum, Brachycephaly, Aplasia/Hypoplasia of the ...	ORPHA:2633
Dysosteosclerosis	Optic atrophy, Abnormal cranial nerve morphology, Hypertelorism, Abnormal dental enamel morpholog...	ORPHA:1782
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Mitral regurgitation	OMIM:212112
Stuve-Wiedemann Syndrome 1	Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni...	OMIM:601559
Acquired Von Willebrand Syndrome	Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,...	ORPHA:99147
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, ...	OMIM:615355
Thanatophoric Dysplasia, Type I	Short greater sciatic notch, Small abnormally formed scapulae, Cloverleaf skull, Wide-cupped cost...	OMIM:187600
Kyphomelic Dysplasia	Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla...	OMIM:211350
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration...	ORPHA:168549
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Prominent nose, Hypertelorism, Osteoporosis, Retrognathia, Cerebral atrophy, Coxa valga, Finger c...	ORPHA:2958
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Depressed nasal ridge, Limb undergrowth, Hypotelorism, Joint contracture of the hand, Overlapping...	OMIM:601016
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Mitral regurgitation	OMIM:123700
Chung-Jansen Syndrome	Micrognathia, Tapered finger, Hypertelorism, Macrotia, Short nose, Joint hypermobility, Anteverte...	OMIM:617991
Fatco Syndrome	Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ...	ORPHA:2492
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto...	ORPHA:1836
Cenani-Lenz Syndrome	Short nose, Malar flattening, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger...	ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Genu varum, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, Upper-limb metap...	OMIM:618728
Carpenter Syndrome 1	Genu varum, Hydroureter, Malar flattening, Joint contracture of the hand, Deviation of finger, Sh...	OMIM:201000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib...	ORPHA:397973
Pelviscapular Dysplasia	Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Brachydactyly, Short ...	ORPHA:93333
Acromesomelic Dysplasia 3	Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A...	OMIM:609441
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Micrognathia, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of...	OMIM:618821
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Hydroureter, Symphalangism affecting the phalanges of the hand, Short nose, Frontal...	ORPHA:2547
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Ap...	ORPHA:1307
Epiphyseal Dysplasia, Multiple, 1	Irregular epiphyses, Small epiphyses, Avascular necrosis of the capital femoral epiphysis, Epiphy...	OMIM:132400
Dysplastic Cortical Hyperostosis	Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c...	ORPHA:2204
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Amelia, Toe syndactyly, Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia, Hyperte...	OMIM:601163
Chromosome 20Q11-Q12 Deletion Syndrome	Adducted thumb, Hypertelorism, Hearing impairment, Brachydactyly, Tarsal osteovalgus, Camptodacty...	OMIM:614257
Orofaciodigital Syndrome Iv	Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl...	OMIM:258860
Boomerang Dysplasia	Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Aplasia/Hypoplasia of the abdomi...	ORPHA:1263
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Micrognathia, Pectus excavatum, Abnormality of the ureter, Convex nasal ridge, Abnor...	ORPHA:2522
Craniometaphyseal Dysplasia, Autosomal Dominant	Club-shaped distal femur, Bony paranasal bossing, Mandibular prognathia, Metaphyseal widening, Hy...	OMIM:123000
Dyggve-Melchior-Clausen Disease	Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement...	OMIM:223800
Coccidioidomycosis	Broad metatarsal, Abnormality of the spleen, Abnormal sperm morphology, Abnormality of the kidney...	ORPHA:228123
Cardiogenic Shock	Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres...	ORPHA:97292
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Metaphyseal dysplasia, Depressed nasal bridge, Short nose, Epiphyseal dysplasia, Mic...	OMIM:614732
Dislocation Of The Hip-Dysmorphism Syndrome	Depressed nasal ridge, Abnormality of the knee, Abnormality of the urinary system, Malar flatteni...	ORPHA:2412
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Micrognathia, Convex nasal ridge, Neutropenia...	OMIM:216550
Camurati-Engelmann Disease	Carious teeth, Cortical thickening of long bone diaphyses, Skeletal muscle atrophy, Mandibular pr...	OMIM:131300
Microphthalmia With Limb Anomalies	Toe syndactyly, Tibial bowing, Hand oligodactyly, Depressed nasal bridge, Talipes equinovarus, Ca...	OMIM:206920
C Syndrome	Renal cortical cysts, Toe syndactyly, Micrognathia, Ulnar deviation of finger, Limb undergrowth, ...	OMIM:211750
Intellectual Disability, Wolff Type	Large hands, Hypertelorism, Macrotia, Wide nasal bridge, Hypoplastic superior helix, Bulbous nose...	ORPHA:3080
Hypophosphatasia	Failure to thrive in infancy, Large fontanelles, Bowing of the long bones, Craniosynostosis, Anem...	ORPHA:436
Pseudodiastrophic Dysplasia	Micrognathia, Midface retrusion, Talipes equinovarus, Brachycephaly, Failure to thrive, Rhizomeli...	OMIM:264180
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Malar ...	ORPHA:457395
Achondrogenesis	Micrognathia, Short nose, Short thorax, Frontal bossing, Macrocephaly, Narrow chest, Anteverted n...	ORPHA:932
Subaortic Stenosis--Short Stature Syndrome	Pectus excavatum, Shield chest, Broad finger, Broad toe, Small hand, Malar flattening, Short nose...	OMIM:271960
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Short thorax	ORPHA:93283
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Convex nasal ridge, Brachycephaly, Malar flattening, Frontal bossing, Abnormality of the metacarp...	ORPHA:93262
Ophthalmomandibulomelic Dysplasia	Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Radioulnar ...	OMIM:164900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone...	ORPHA:2634
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus excavatum, Long palm, Pectus carinatum, Mandibular prognathia, Slender build, Prominent na...	OMIM:300676
Platyspondylic Dysplasia, Torrance Type	Abnormality of the carpal bones, Genu varum, Depressed nasal bridge, Hypoplastic scapulae, Bowing...	ORPHA:85166
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Mitral valve prolapse, Mitral reg...	ORPHA:284979
Martsolf Syndrome 1	Metatarsus adductus, Micrognathia, Pectus excavatum, Slender ulna, Depressed nasal bridge, Talipe...	OMIM:212720
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Knee dislocation, Thin ribs, Tapered finger, Multiple joint dislocation, Obesity, Metaphyseal irr...	OMIM:618395
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep...	ORPHA:166016
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose, Hypertelorism, Osteopenia	OMIM:125700
Ulna Hypoplasia-Intellectual Disability Syndrome	Metatarsus adductus, Broad hallux phalanx, Large fontanelles, Ulnar deviation of finger, Hypoplas...	ORPHA:2249
Intermediate Osteopetrosis	Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os...	ORPHA:210110
Buschke-Ollendorff Syndrome	Cutaneous finger syndactyly, Generalized limb muscle atrophy, Abnormality of epiphysis morphology...	ORPHA:1306
Atelosteogenesis Type I	Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Laryngotracheal stenosis, Limb undergrowt...	ORPHA:1190
Brachydactyly, Type B1	Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,...	OMIM:113000
Ohdo Syndrome	Micrognathia, Depressed nasal bridge, Short nose, Wide nasal bridge, Clinodactyly of the 5th fing...	OMIM:249620
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Narrow pelvis bone, Cra...	OMIM:616723
Melnick-Needles Syndrome	Micrognathia, Short clavicles, Hydronephrosis, Bowing of the long bones, Short thorax, Abnormalit...	ORPHA:2484
Ivic Syndrome	Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Hypoplasia of the radius, Preaxial ...	OMIM:147750
Fucosidosis	Failure to thrive, Mucopolysacchariduria, Brachycephaly	ORPHA:349
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Micrognathia, Short nose, Posteriorly rotated ears, Hearing impairment, Brachydactyly, Bulbous no...	OMIM:613604
Distal Monosomy 17Q	Aplasia/Hypoplasia of the thumb, Small hand, Short thorax, Upper limb asymmetry, Deviation of fin...	ORPHA:1597
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis, Proptosis	OMIM:608432
Craniofrontonasal Dysplasia	Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,...	ORPHA:1520
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Wormian ...	OMIM:601356
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Br...	ORPHA:93258
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosis	OMIM:619433
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Hammertoe, Distal amyotrophy, Hyperextensible hand joints, Dysmetria, Hyperte...	OMIM:275900
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Dystonia, Mandibular prognathia, Dysmetria, Hypertelorism, Short nose, Ataxia, Inability to walk,...	OMIM:618087
Acromicric Dysplasia	Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Short long bone, Short metacarpal, Shor...	OMIM:102370
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Toe syndactyly, Broad thumb, Congenital diaphragmatic hernia, Hypertelorism...	ORPHA:380
Spondylometaphyseal Dysplasia, X-Linked	Depressed nasal bridge, Hip contracture, Tapered finger, Short finger, Hypertelorism, Wide nasal ...	OMIM:313420
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Type 2 muscle fiber atrophy, Facial palsy, Absent brainstem auditory r...	OMIM:617519
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Micrognathia, Depressed nasal bridge, Hypoplasia of penis, Wide nasal bridge, F...	ORPHA:2256
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat...	OMIM:271650
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Idiopathic/Heritable Pulmonary Arterial Hypertension	Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ...	ORPHA:422
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hip contracture, Talipes equinovarus, Short nose, Malar flat...	OMIM:193700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Monkey wrench femoral neck, 2-3 toe syndactyly, Limited elbow extension, Anteverted nares, Micror...	OMIM:618870
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Arachnodactyly, Sandal ga...	ORPHA:2725
Smith-Kingsmore Syndrome	Thoracic hypoplasia, Depressed nasal bridge, Midface retrusion, Rhizomelia, Short nose, Large for...	OMIM:616638
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Depressed nasal bridge, Gait imbalance, Wide nose, Hypertelorism, EEG with fo...	ORPHA:488635
Thanatophoric Dysplasia, Type Ii	Short greater sciatic notch, Small abnormally formed scapulae, Cloverleaf skull, Wide-cupped cost...	OMIM:187601
Congenital Disorder Of Glycosylation, Type Ig	Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,...	OMIM:607143
Albers-Schönberg Osteopetrosis	Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, Fa...	ORPHA:53
Andersen Cardiodysrhythmic Periodic Paralysis	Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Bulbous nose, Hypoplasia of the ...	OMIM:170390
Edinburgh Malformation Syndrome	Micrognathia, Ulnar deviation of finger, Long fingers, Failure to thrive, Short nose, Slender fin...	ORPHA:1895
Baker-Gordon Syndrome	Dystonia, Prominent nasal tip, Short nose, Ataxia, Inability to walk, EEG abnormality, Joint laxity	OMIM:618218
Collagenoma, Familial Cutaneous	Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Iris atrophy, Vasculitis, Congestiv...	OMIM:115250
Hall-Riggs Syndrome	Prominent nose, Abnormality of epiphysis morphology, Limb undergrowth, Failure to thrive, Abnorma...	ORPHA:2107
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Osteoporosis, Dislocated radial head, Arachnodactyly, Joint hypermobilit...	OMIM:614856
Cataract-Microcornea Syndrome	Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea	ORPHA:1377
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Malar flattening, Synostosis of joints, Bulbous nose, Abnormality of tib...	ORPHA:2496
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter, Convex nasal ridge, Arachnodactyly, Genu valgum, Frontal bossing, Sand...	ORPHA:1035
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proximal humeral metaphyseal irregularity, Long clavicles, Micrognathia, Hypoplastic pelvis, Thor...	OMIM:602613
Velofacioskeletal Syndrome	Broad palm, Hyperextensible hand joints, Hypertelorism, Posteriorly rotated ears, Prominent nasal...	OMIM:600736
Fibrochondrogenesis	Plagiocephaly, Depressed nasal bridge, Hypoplastic scapulae, Abnormality of the metaphysis, Short...	ORPHA:2021
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi...	OMIM:601668
Juberg-Hayward Syndrome	Hypospadias, Toe syndactyly, Horseshoe kidney, Abnormality of the elbow, Hammertoe, Wide nose, Hy...	ORPHA:2319
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Prominent nose, Micrognathia, Broad nasal tip, Hypertelorism, Small hand, Sandal gap, Slender fin...	OMIM:617755
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Right ventricular hypertrophy, Wide nose, Hypertelorism, Short nose, Hearing impai...	OMIM:614261
Thoracolaryngopelvic Dysplasia	Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,...	OMIM:187760
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Clinodactyly of the 5th finger, Recurrent up...	ORPHA:2399
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Mitral regurgitation, Left ventricular systolic dysfunction, Tricuspid re...	OMIM:619167
Three M Syndrome 1	Hypospadias, Pectus excavatum, Depressed nasal bridge, Small for gestational age, Mandibular prog...	OMIM:273750
Hydrocephalus With Associated Malformations	Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth	OMIM:236640
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Diaphyseal thickening, Temporomandibular joint ankylosis, Wide nose, Arthritis, W...	ORPHA:217085
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Flat occiput, Tibial bowing, Fibular bowing, Deformed rib cage, Enlargement of the wrists, Bowing...	OMIM:600081
Dyggve-Melchior-Clausen Syndrome, X-Linked	Hallux valgus, Thickened calvaria, Brachycephaly, Mandibular prognathia, Avascular necrosis of th...	OMIM:304950
Mohr Syndrome	Metaphyseal irregularity, Malar flattening, Syndactyly, Hypoplasia of the maxilla, Micrognathia, ...	OMIM:252100
Acrocephalopolysyndactyly Type Iii	Mandibular prognathia, Lower limb undergrowth, Broad thumb, Hypertelorism, Malar flattening, Abno...	OMIM:101120
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Epiphyseal stippling, Short nose, Hearing impairment, Hypogonadism, Short...	OMIM:302950
Congenital Tricuspid Stenosis	Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa...	ORPHA:95459
Short Rib-Polydactyly Syndrome	Abnormal ilium morphology, Hypospadias, Short ribs, Urogenital sinus anomaly, Syndactyly, Abnorma...	ORPHA:1505
Achondrogenesis, Type Ia	Short clavicles, Depressed nasal bridge, Hypoplastic scapulae, Abnormal hand bone ossification, S...	OMIM:200600
Leukoencephalopathy, Progressive, With Ovarian Failure	Dystonia, Cerebellar atrophy, Neurodegeneration, Ataxia, Premature ovarian insufficiency	OMIM:615889
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Diaphyseal thickening, Temporomandibular joint ankylosis, Wide nose, Arthritis, W...	ORPHA:217093
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment, Generalized osteosclerosis, Thickened cortex of long bones, Osteop...	OMIM:607634
Mietens Syndrome	Metatarsus adductus, Elbow ankylosis, Avascular necrosis of the capital femoral epiphysis, Short ...	ORPHA:2557
Fabry Disease	Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,...	ORPHA:324
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Depressed nasal bridge, Polydactyly, Short nose, Hypoplastic ischia, Microcephaly	OMIM:616910
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Single transverse palmar crease, Broad nasal tip, Mandibular prognathia, Hypertelorism, Short nos...	ORPHA:391372
Clark-Baraitser Syndrome	Depressed nasal bridge, Short nose, Hypertelorism, Sandal gap, Hyperactivity, Clinodactyly	OMIM:617752
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heavy proteinuria, Leukopenia, Pectus carinatum, Nephrotic syndrome, Short nose, Anemia, Hepatosp...	ORPHA:505248
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Abnormal diaphysis morphology, Micrognathia, Overtubulated long bones, Malar flattening, Wormian ...

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