Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
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 Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
Infertility, Increased bone mineral density OMIM:166450
Mosaic Trisomy 14
Hypospadias, Micrognathia, Failure to thrive, Prominent nasal bridge, Wide nasal bridge, Frontal ... ORPHA:1703
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
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
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
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
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
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
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
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
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
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 ...