Registered for phenotyping at IMPC

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

Gene Summary

Name:
fibrillin 1
Synonyms:
Fib-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fbn1 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 Fbn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mass Syndrome
Pectus carinatum, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Long eyelashes, Short foot, Fifth metacarpal with... OMIM:102370
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Exertional dyspnea, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, A... ORPHA:91387
Acromicric Dysplasia
Abnormality of femur morphology, Abnormal eyebrow morphology, Abnormality of epiphysis morphology... ORPHA:969
Neonatal Marfan Syndrome
Joint hypermobility, Abnormal echocardiogram, Enlarged thorax, Tricuspid regurgitation, Long toe,... ORPHA:284979
Marfan Syndrome
Scoliosis, Joint hypermobility, Camptodactyly, Tricuspid regurgitation, Metatarsus adductus, Aort... OMIM:154700
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Striae distensae, Broad phalanges of the hand, Elbow flexion contrac... OMIM:608328
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Narrow chest, Kyphosis, Pectus excavatum, Aortic root aneurysm, Mitral valve pr... OMIM:616914
Geleophysic Dysplasia 2
Short nose, Ovoid vertebral bodies, Tricuspid stenosis, Aortic valve stenosis, Mitral stenosis, M... OMIM:614185
Shprintzen-Goldberg Syndrome
Scoliosis, Narrow chest, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatu... ORPHA:2462
Stiff Skin Syndrome
Lack of skin elasticity ORPHA:2833
Stiff Skin Syndrome
Lipodystrophy, Camptodactyly, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Weill-Marchesani Syndrome
Brachydactyly, Short thumb ORPHA:3449
Isolated Ectopia Lentis
Mandibular prognathia, Malar flattening ORPHA:1885
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
ORPHA:2084
Ectopia Lentis 1, Isolated, Autosomal Dominant
OMIM:129600

The table below shows human diseases predicted to be associated to Fbn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Brachydactyly, Type A1, D
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... OMIM:616849
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Abnormal hair morphology, Metaphyseal cupping of metacarpals, Short lon... OMIM:250460
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Mass Syndrome
Pectus carinatum, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Narrow chest, Abnormal mitral valve morphology, Ab... ORPHA:1354
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short hallux, Short metatarsal, Hallux varus, Hitchhiker thumb, Short distal phalanx of finger, S... OMIM:112450
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Pectus carinatum, Pectus excavatum, Thoracic aortic aneurysm, Mitral valve pro... OMIM:616166
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Abnormal bleeding, Palpitations, Dyspnea,... ORPHA:2038
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Hematuria, Pericardial effusion, Cough, Renal insufficiency, Abnormal heart ... ORPHA:36412
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Long eyelashes, Short foot, Fifth metacarpal with... OMIM:102370
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Exostoses, Multiple, Type Ii
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133701
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Sparse hair, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad me... OMIM:618724
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal OMIM:609655
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Joint hyperflexibility, Emphysema, Umbilical hernia, Pulmonic st... ORPHA:90348
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal ORPHA:50809
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Irregular epiphyses, Short metacarpal, Avascular necrosis o... OMIM:132400
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Cigarette-paper scars, Joint laxity, Eczematoid dermatitis, Mucoid extracellular matrix accumulat... OMIM:130090
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Emphysema, Cerebral berry aneurysm OMIM:210050
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Synophrys, Thick eyeb... ORPHA:1278
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Delayed epiphyseal ossification, Limited ... OMIM:600969
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Joint stiffness... ORPHA:1166
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Oligohydramnios, Emphysema, Pectus excavatum, Umbilical hernia, Inguinal hernia, Co... OMIM:219100
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Exertional dyspnea, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, A... ORPHA:91387
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Joint hypermobility, Cigarette-paper scars, Hypermobility of interphalangeal... OMIM:130050
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, U... ORPHA:93387
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal ... OMIM:277150
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand p... ORPHA:1120
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pu... OMIM:268500
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Parathyroid adenoma, Emphysema, Pneumothorax ORPHA:122
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Palpitations, Partial diaphragmatic absence of pericardium, Atrial septa... ORPHA:2847
Rare Circulatory System Disease
Limited wrist movement, Arterial tortuosity, Abnormal metatarsal morphology, Abnormality of finge... ORPHA:98028
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atheroscl... ORPHA:494424
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Loeys-Dietz Syndrome 4
Scoliosis, Arterial tortuosity, Protrusio acetabuli, Aortic tortuosity, Joint laxity, Mitral valv... OMIM:614816
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped carpal bones, ... ORPHA:968
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Periventricular Nodular Heterotopia
Scoliosis, Abnormal bleeding, Joint hypermobility, Aortic regurgitation, Abnormal heart valve mor... ORPHA:98892
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema, Hepatitis, Nephrotic syndrome ORPHA:60
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Pectus carinatum, Kyphosis, Pulmonic stenosis, Aortic root ane... OMIM:609008
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Acromicric Dysplasia
Abnormality of femur morphology, Abnormal eyebrow morphology, Abnormality of epiphysis morphology... ORPHA:969
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Hip subluxation, Mitral valve prolapse, Elbow flexion c... ORPHA:1900
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Abnormal hip joint morphology, Pericard... ORPHA:51608
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Calcification of the aorta, Dysplasia of second lumbar vertebra, Short phalanx of ... OMIM:208060
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Short distal phalanx of the thumb, ... ORPHA:79445
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostosis of carpal b... ORPHA:93351
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Takayasu Arteritis
Arterial stenosis, Increased inflammatory response, Abnormal endocardium morphology, Abnormal hea... ORPHA:3287
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture... OMIM:253700
Arterial Calcification, Generalized, Of Infancy, 1
Ankylosis, Generalized arterial calcification, Periarticular calcification, Hypophosphatemic rick... OMIM:208000
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Finger syndactyly, Omphalocele, Aplasia/Hypoplasia of the radius... ORPHA:2141
Cutis Laxa, Autosomal Dominant 1
Mitral regurgitation, Emphysema, Aortic regurgitation OMIM:123700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Netherton Syndrome
Skin rash, Increased circulating IgE level, Abnormal hair morphology, Erythroderma, Emphysema, De... ORPHA:634
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Duplication of the distal phalanx of the 5th finger, Abnormality of the metacarpal bones, Short t... ORPHA:973
Marfanoid Hypermobility Syndrome
Scoliosis, Joint hypermobility, Aortic regurgitation, Pectus carinatum, Pectus excavatum, Mitral ... OMIM:154750
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metatarsal, Short metacarpal OMIM:113400
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Mitral Valve Prolapse 1
Mitral valve prolapse, Reversed usual vertebral column curves, Pectus excavatum OMIM:157700
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Short foot, Small hand, Ingui... OMIM:180870
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered patella, Shor... ORPHA:93307
Congenital Diaphragmatic Hernia
Prominent sternum, Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, H... ORPHA:2140
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... ORPHA:93320
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... ORPHA:392
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Cer... OMIM:187300
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Calcification Of Joints And Arteries
Periarticular calcification, Arterial calcification, Ectopic ossification, Abnormality of the ver... OMIM:211800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Thin skin, Fibular hypoplasia... OMIM:201170
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Brachydactyly, Type E2
Brachydactyly, Short metatarsal, Short metacarpal OMIM:613382
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Smith-Mccort Dysplasia 2
Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, Pes planus, Bro... OMIM:615222
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Pr... ORPHA:391665
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Decreased ... OMIM:618913
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Dilatation of the sinus of Valsalva, Heart murmur, Congesti... ORPHA:1054
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Short metacarpal, Meta... OMIM:186400
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Low posterior hairline, Short metacarpal ORPHA:261524
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short finger, Short metacarpal, Short toe, Pili canaliculi, Unc... OMIM:191482
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars, Short phalanx of finger, ... OMIM:612350
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Arterial Tortuosity Syndrome
Scoliosis, Abnormal carotid artery morphology, Craniosynostosis, Cardiac arrest, Pulmonary artery... ORPHA:3342
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal ORPHA:2489
Hypophosphatasia
Craniosynostosis, Narrow chest, Emphysema, Bowing of the long bones, Recurrent fractures, Respira... ORPHA:436
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitral valve prolaps... OMIM:613795
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Short thorax, Abnormal for... ORPHA:2311
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Micrognathia, Short distal phalanx of finger,... OMIM:311895
Marfan Syndrome
Scoliosis, Joint hypermobility, Dilatation of an abdominal artery, Skeletal muscle atrophy, Arthr... ORPHA:558
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... OMIM:255980
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Arterial Tortuosity Syndrome
Hiatus hernia, Ventricular hypertrophy, Ischemic stroke, Aortic tortuosity, Aortic regurgitation,... OMIM:208050
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Hemivertebrae, Unilateral vertebral artery hypo... OMIM:613686
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short foot, Short metacarpal, Patellar dislocation, Micrognathia, Brachyd... OMIM:614078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Pes planus, Hypoplasia ... OMIM:618395
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Short metatarsal, Short phalanx of finger, Sparse hair, Short finger, Short metacarpa... OMIM:190351
Malignant Atrophic Papulosis
Peritonitis, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Pleural effusion, Abnormal ... ORPHA:679
Mental Retardation, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Rigid Spine Syndrome
Scoliosis, Abnormality on pulmonary function testing, Hyperlordosis, Cardiac conduction abnormali... ORPHA:97244
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun... ORPHA:1572
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Mullegama-Klein-Martinez Syndrome
Scoliosis, Bulbous nose, Polydactyly, Wide nasal bridge, Depressed nasal bridge, Hypoplastic left... OMIM:301022
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Arterial calcification, Abnormal cardiovascular system physiology, Arterial ... ORPHA:289601
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypopla... OMIM:304950
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysi... OMIM:146000
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hirsutism, Hypoplasia of the ulna, Synophrys, Clinodactyly, Micrognathia ORPHA:357175
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Phalangeal dislocation, Ovoid vertebral bodies,... ORPHA:536467
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bone, Coxa vara, Genu varum,... OMIM:618728
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Talipes, Elbow ankylosis, Hypoplasia ... ORPHA:2557
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Joint hyperflexibility, Respirator... ORPHA:1488
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short middle phalanx of the 2nd finger, Short 5th metacarpal, Metaphyseal dysplasia, Flared metap... OMIM:156510
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Short 5th metacarpal, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology, Congenital diaphr... DECIPHER:39
Cutis Laxa, Autosomal Recessive, Type Ib
Joint hypermobility, Arterial tortuosity, Bulbous nose, Oligohydramnios, Pulmonary insufficiency,... OMIM:614437
Neonatal Marfan Syndrome
Joint hypermobility, Abnormal echocardiogram, Enlarged thorax, Tricuspid regurgitation, Long toe,... ORPHA:284979
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Camptodactyly, Pes cavus, Short toe, Hip dislocation, Tapered finger, Pr... OMIM:613458
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Giant Cell Arteritis
Arrhythmia, Pericarditis, Abnormal pleura morphology, Aortic dissection, Cough, Epistaxis, Sudden... ORPHA:397
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Finger clinodactyly, Camp... OMIM:617602
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Cap Myopathy
Abnormal muscle fiber morphology, Pectus excavatum, Sinus tachycardia, Lower limb muscle weakness... ORPHA:171881
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Vexas Syndrome
Chondritis of pinna, Arteritis, Neutrophilic infiltration of the skin, Nasal chondritis, Arthriti... OMIM:301054
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short nail, Short metatarsal, S... OMIM:602875
Mental Retardation, Autosomal Recessive 35
Hirsutism, Hypoplasia of the ulna, Synophrys, Clinodactyly, Micrognathia OMIM:615162
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Delayed ossification of carpal bones... OMIM:184260
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Cone-shaped epiphyses of the toes, Carpal bone... OMIM:600593
8P23.1 Microdeletion Syndrome
Broad thumb, Short nose, Enlarged thorax, Abnormal aortic morphology, Broad hallux phalanx, Paten... ORPHA:251071
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower... ORPHA:365
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Pyelonephritis, Abnormal cardiac ventricular function, Emphysema, Peripheral pulmon... ORPHA:90349
Costello Syndrome
Macroglossia, Abnormal dental enamel morphology, Thickened Achilles tendon, Abnormal hair morphol... ORPHA:3071
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Pes planus, Narrow pelvis ... OMIM:610797
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media OMIM:608971
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Double outlet ri... OMIM:618254
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Emphysema, Aortic a... ORPHA:363618
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Odontochondrodysplasia
Scoliosis, Platyspondyly, Short nose, Respiratory distress, Narrow chest, Square pelvis bone, Joi... ORPHA:166272
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Temtamy Syndrome
Joint hyperflexibility, Genu varum, Short toe, Clinodactyly of the 5th finger, Brachydactyly, Aor... ORPHA:1777
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Congenital Contractural Arachnodactyly
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Aortic aneurysm, Flexion ... ORPHA:115
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Lower limb undergrowth, Short phalanx of finger, Short lowe... OMIM:127200
Keutel Syndrome
Epiphyseal stippling, Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Cereb... OMIM:245150
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Micromelia, Madel... ORPHA:321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Calcification of the aorta, Pulmonary fibrosis, Spontaneous, r... ORPHA:2072
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Medial calcification of medium-sized arteries, Abnormal sternum morphology, Arterioscl... OMIM:177850
Craniofrontonasal Dysplasia
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Craniosynostosis, Hand polydact... ORPHA:1520
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Tachypnea, Joint laxity, Oligohydramnios, Rickets, Cough, Emphysema, Pectus excavatum,... OMIM:613658
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Leri Pleonosteosis
Scoliosis, Camptodactyly of finger, Broad thumb, Abnormality of finger, Abnormality of epiphysis ... ORPHA:2900
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Joint laxity, Camptodactyly, Metatarsus adductu... OMIM:182212
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respirat... OMIM:156530
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Coronary... OMIM:614473
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Thin skin, Micrognathia, Elbow flexio... OMIM:601559
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava dra... ORPHA:185
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Rin2 Syndrome
Scoliosis, Joint hypermobility, Abnormal sternum morphology, Umbilical hernia, Increased suscepti... ORPHA:217335
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Noonan Syndrome 10
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Pleural effusion, P... OMIM:616564
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Decreased proportion of memory ... OMIM:615897
Fragile X Syndrome
Scoliosis, Mitral valve prolapse, Pectus excavatum OMIM:300624
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Immunodeficiency 59 And Hypoglycemia
Arteritis, Pectus carinatum, Stomatitis, Wide nasal bridge, Slender finger, Encephalitis, Acne in... OMIM:233600
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thu... OMIM:605282
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Ellis Van Creveld Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Atrial septal defect, Situs inv... ORPHA:289
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly... ORPHA:294975
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Sinusitis ORPHA:908
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Umbilical hernia, Bladder diverticulum, Wide nasal bridge, Laryngomala... OMIM:613177
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Arteritis, Scleritis, Purpura, Dyspnea, Cough, Glo... ORPHA:93126
Classical-Like Ehlers-Danlos Syndrome Type 1
Precocious atherosclerosis, Mitral valve prolapse, Spina bifida occulta ORPHA:230839
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Pulmonary edema, Respiratory distre... ORPHA:90068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... ORPHA:280333
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumon... ORPHA:264675
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Epiphyseal stippling, M... OMIM:619135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Marfan Syndrome
Scoliosis, Joint hypermobility, Camptodactyly, Tricuspid regurgitation, Metatarsus adductus, Aort... OMIM:154700
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormal dental enamel morphology, Abnormality of long bone morph... ORPHA:666
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Kyphoscoliotic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Congenital hip dislocation, Subdural hemorrhage, Dextrocardia, Sh... ORPHA:536545
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Pectus carinatum, Kyphosis, Flattened pr... OMIM:271530
2Q37 Microdeletion Syndrome
Toe syndactyly, Underdeveloped nasal alae, Finger syndactyly, Joint hyperflexibility, Abnormal ao... ORPHA:1001
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Broad thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Toe syndact... ORPHA:380
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness OMIM:617087
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal hair whorl, Vesicoureteral ... OMIM:614261
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Mosaic Trisomy 1
Polyhydramnios, Omphalocele, Increased nuchal translucency, Long toe, Congenital diaphragmatic he... ORPHA:1692
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Larsen Syndrome
Scoliosis, Short metatarsal, Joint laxity, Spina bifida occulta, Bronchomalacia, Depressed nasal ... OMIM:150250
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Osteomyelitis, E... ORPHA:31204
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Arteria lusoria, Mitral stenosis, Tricuspid valve prolapse, Patent foramen ova... OMIM:212093
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Loeys-Dietz Syndrome 2
Scoliosis, Craniosynostosis, Joint laxity, Generalized arterial tortuosity, Camptodactyly, Abnorm... OMIM:610168
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Stickler Syndrome Type 1
Mitral valve prolapse, Abnormality of vertebral epiphysis morphology, Short nose, Platyspondyly ORPHA:90653
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Restrictive ventilatory defect, Multiple renal ... ORPHA:538
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Pes planus, Alopecia universalis, Alopecia, Short metacarpal, Brac... OMIM:600705
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Sandal gap, Shoulder dislocation,... OMIM:245600
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Hypoplasia of the ul... ORPHA:2804
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Pallister W Syndrome
Radial bowing, Cubitus valgus, Pes planus, Camptodactyly, Hypoplasia of the ulna, Radial deviatio... OMIM:311450
Smith-Mccort Dysplasia 1
Genu valgum, Multicentric femoral head ossification, Short phalanx of finger, Metaphyseal irregul... OMIM:607326
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Short neck ORPHA:2233
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Iritis, Pleural effusion, Rheumatoid arthritis, Pericardial eff... OMIM:108050
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Supernumerary nipple, Hypop... ORPHA:246
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth OMIM:218650
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Omphalocele, Short distal phalanx of finger, Sandal gap... OMIM:311300
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Respiratory distress... ORPHA:533
Mucopolysaccharidosis, Type Ivb
Scoliosis, Joint laxity, Constricted iliac wing, Ovoid vertebral bodies, Grayish enamel, Osteopor... OMIM:253010
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Pulmonary hypoplasia, Syndactyly, Abnormality of the diaphragm, Decr... OMIM:601163
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shortening of all metacarpal... OMIM:601356
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Scoliosis, Osteolysis, Abno... OMIM:614008
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Pericardial effusion, Cough, Pancytopenia, Hypercalciuria, Pulmonary arterial hyp... OMIM:181000
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Highly arched eyebrow, Sparse eyelashes, Finger syndactyly, Sandal gap, ... ORPHA:178303
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hypophosphatemic Rickets
Calcification of the aorta, Rickets, Craniofacial osteosclerosis, Bowing of the long bones, Odont... ORPHA:437
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Abnormal dental enamel morphology, Toe syndactyly, Radiou... ORPHA:3258
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal c... OMIM:611717
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Aicardi-Goutières Syndrome
Scoliosis, Moyamoya phenomenon, Calcification of the aorta, Panniculitis, Chilblains, Lipoatrophy... ORPHA:51
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Pectus excavatum, Spondylolisthe... OMIM:108300
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Aplasia/Hypoplasia of the capital femoral epiphysis, Large tarsal bones, Short phalanx of finger,... OMIM:215150
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Red hair, Cone-shaped epiphysis, Fair hair, Short meta... OMIM:614613
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Hepatic arteriovenous malformation, Mitral val... OMIM:175050
Contractural Arachnodactyly, Congenital
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Patent ductus arter... OMIM:121050
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Noonan Syndrome With Multiple Lentigines
Scoliosis, Scapular winging, Abnormal mitral valve morphology, Abnormal endocardium morphology, P... ORPHA:500
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Metaphyseal widening, Underdeveloped nasal alae, Abnormal heart morphology, Oligo... OMIM:263210
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Short distal phalanx of finger, Flared metaphysis, Short m... OMIM:618150
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Lymphedema, Abnormal bone structure, Abnor... ORPHA:1306
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Short metatarsal, Sparse hair, Micrognathia, Shortening of all phalanges... ORPHA:77258
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Decreased circulating IgG2 level, Functional abnormality of the bladd... ORPHA:2571
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Pectus ... OMIM:614399
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Abnorm... ORPHA:2990
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Respiratory insufficiency, Sandal gap, ... OMIM:256050
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Short neck ORPHA:2183
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Aortic regurgitation, Abnormal heart morphology, Patent ductus arteriosus, D... ORPHA:284984
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Kyphosis, Short finger, Sclerosis of skull base, Respiratory ins... OMIM:313420
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Long thorax, Abnormal mitral valve morphology ORPHA:1277
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Lethal Recessive Chondrodysplasia
Polyhydramnios, Macroglossia, Respiratory distress, Narrow chest, Flared elbow metaphyses, Genera... ORPHA:1423
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Frank-Ter Haar Syndrome
Scoliosis, Beaking of vertebral bodies, Kyphosis, Wide nasal bridge, Mitral valve prolapse, Depre... ORPHA:137834
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Low anterior hairline, Short foot, Short distal ph... ORPHA:3201
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Emanuel Syndrome