Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
thyroid hormone receptor interactor 11
Synonyms:
GMAP-210,  3110031G15Rik,  TRIP230,  6030460N08Rik,  2610511G22Rik

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 Trip11 mutations

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

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

The table below shows human diseases predicted to be associated to Trip11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal morphology of the radius, Abno... ORPHA:1263
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Congenital diaphr... ORPHA:2141
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth OMIM:166350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis m... ORPHA:93267
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Toe syndactyly, Anteverted nares, Amelia, Congenital diaphragmatic hernia, ... OMIM:601163
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormal rib morphology, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowi... ORPHA:3035
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Bro... OMIM:228520
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Achondrogenesis Type 1A
Abnormal enchondral ossification, Micromelia, Umbilical hernia, Anteverted nares, Micrognathia, M... ORPHA:93299
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia, Congenital diaphragmatic hernia,... OMIM:263210
Achondrogenesis Type 1B
Abnormal enchondral ossification, Micromelia, Umbilical hernia, Anteverted nares, Micrognathia, T... ORPHA:93298
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shap... OMIM:175700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short... OMIM:118651
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Omphalocele, Patent ductus art... OMIM:601927
Achondrogenesis
Abnormal enchondral ossification, Micromelia, Umbilical hernia, Anteverted nares, Micrognathia, I... ORPHA:932
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Pseudodiastrophic Dysplasia
Talipes equinovarus, Rhizomelia, Phalangeal dislocation, Omphalocele ORPHA:85174
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Micrognathia, Abnorma... ORPHA:2484
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Omphalocele, Short nose ORPHA:531
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... ORPHA:3304
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... OMIM:300863
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph... ORPHA:2370
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Depressed nasal bridge, Pulmonary hypoplasia, Micromelia, Horizontal ribs, Shor... OMIM:617895
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertr... OMIM:263000
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Metatropic Dysplasia
Depressed nasal bridge, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, H... ORPHA:2635
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Death in childhoo... OMIM:618961
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Hernia of the abdominal wall, Brachydactyly, Convex n... ORPHA:1277
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g... OMIM:618529
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Overriding aorta, Ompha... OMIM:617022
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Omphalocele, Short nose ORPHA:1906
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Asbestos Intoxication
Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick... ORPHA:2302
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Trigonocephaly 1
Wide nasal bridge, Craniosynostosis, Omphalocele, Short nose OMIM:190440
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers,... OMIM:211750
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short ribs, Gene... OMIM:215045
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Joint... ORPHA:969
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Anteverted nares, Micrognathia, Diastasis recti, Inguinal hern... OMIM:608149
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow ... OMIM:614078
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Depressed nasal bridge, Severe limb... OMIM:151210
Acalvaria
Omphalocele, Abnormal lung lobation ORPHA:945
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... ORPHA:477817
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypop... ORPHA:2204
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptoda... ORPHA:2021
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica... ORPHA:1426
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Upper limb undergrowth, Abn... ORPHA:93351
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Omphalocele ORPHA:3366
Distal Duplication 15Q
Camptodactyly of finger, Joint stiffness, Micrognathia, Prominent nasal bridge, Arachnodactyly, O... ORPHA:1707
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Hip dysplasia, Flexion contracture, Short nose OMIM:618379
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Mic... ORPHA:166272
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Short foot, Short nose OMIM:300577
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Micromelia, Short nose, Anteverted nares, Micrognathia, Abnor... ORPHA:93329
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ... ORPHA:166002
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Rhiny
Anteverted nares, Inguinal hernia, Short nose OMIM:180360
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Anteverted nares... OMIM:145420
Achondrogenesis Type 2
Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati... ORPHA:93296
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Short... ORPHA:217340
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Umbilical hernia, Short ribs, Limb undergrowth, Dumbbell-shaped... OMIM:269250
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Umbilical hernia, Absent or minimally ossified vertebral bodies, In... OMIM:600972
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide di... OMIM:613320
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Inability to walk OMIM:620071
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, A... ORPHA:99050
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Kyphomelic Dysplasia
Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate ribs, Missing r... ORPHA:1801
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Wide anterior fontanel, Omphalocele, Umbilical hernia OMIM:275100
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal lung lobation, Abnormal hip bone... ORPHA:2631
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology, ... ORPHA:2145
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Inguinal hernia, Atrial septal defect, Umbilical hernia OMIM:618354
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Bowing of the long ... ORPHA:90652
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Ab... ORPHA:628
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Stillbir... OMIM:616300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Omphalocele
Omphalocele ORPHA:660
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Depressed nasal bridge, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia... ORPHA:1901
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Chylopericardium, Pulmonic stenosis ORPHA:2414
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Overriding aorta, Patent ductus arteriosus, Ventricular septal d... OMIM:617021
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Short nos... ORPHA:2143
Ruvalcaba Syndrome
Small hand, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow extension, Inguinal... OMIM:180870
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Intrauterine growth retardat... ORPHA:2257
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Abnormal epiphysis morpholo... ORPHA:2639
Kniest Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Hip dislocation, Limitation ... OMIM:156550
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous ventricular s... OMIM:618804
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Umbilical hernia, Overlapping toe, Anteverted nares, Diastasis recti, Ing... ORPHA:254528
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Pulmonary hypoplasia, Flared metaphysis, Decreased fibular diamete... OMIM:616897
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Acrocephalopolydactyly
Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short long bone, Short nose ORPHA:221054
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... ORPHA:2741
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Short ribs, Cupped ribs, H... OMIM:614524
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Recurrent respiratory infections, Con... OMIM:618618
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar... ORPHA:1110
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Cyanosis, Patent f... ORPHA:60041
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Intrauterine growth retardation, Death in childhood, De... OMIM:243150
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in infancy, Trun... OMIM:617478
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor... OMIM:313850
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Short nose, Anteverted nares, ... ORPHA:163649
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal def... ORPHA:3426
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, 2... ORPHA:1692
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Joint hypermobility, Limb underg... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Small epiphyses, Femor... OMIM:608728
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Multiple rib ... OMIM:166210
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Recurrent respiratory infections, Antevert... OMIM:610015
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Death in infancy, Aortic aneurysm, Atrial septal de... OMIM:620070
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Flared nostrils, Toe syndactyly, Wide n... OMIM:609625
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Perching Syndrome
Camptodactyly, Cyanosis, Joint contracture OMIM:617055
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis ... ORPHA:1842
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Hernia, Abnormality of the pu... ORPHA:2092
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Neonatal death, Ventricular septal defe... OMIM:615524
Opsismodysplasia
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Short nose, Joint stiffness, ... ORPHA:2746
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Omphalocele ORPHA:254534
Cutis Laxa-Marfanoid Syndrome
Limitation of joint mobility, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Flexion... ORPHA:171719
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa... OMIM:302950
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Dea... OMIM:241800
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Convex nasal ridge, Short nose ORPHA:1695
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula... ORPHA:1335
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Anteverted nares, Death in childhoo... OMIM:619124
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Pulmonary hypoplasia, Short toe, Atelectasis, Short finger, Bowing of the a... OMIM:269860
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Depressed nasal bridge, Limitation of joint mobility, Dumbbell-shaped femur... ORPHA:1427
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Trisomy 1Q
Depressed nasal bridge, Toe syndactyly, Microretrognathia, Camptodactyly of finger, Preaxial hand... ORPHA:261344
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Distal ulnar epiphyseal ... OMIM:609616
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Cervical ribs, Preaxial hand polydactyly, Talipes equinovarus, Omphalocele OMIM:601389
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Umbilical hernia, Anteverted nares, Micrognathia, Short c... ORPHA:171839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... ORPHA:163966
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydac... ORPHA:40
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Recurrent pneumonia, Camptodactyly of finger, Micrognathia, Death in infancy, Short nose ORPHA:1495
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Hypoplastic ilia, Pulmonary hypoplasia, Limitation of joint mobility, Micromel... ORPHA:1865
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morphology, Epiphyseal stippling, Li... ORPHA:177
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Inguinal hernia, Clinodactyly of the 5th finger, Short nose, Wide nose ORPHA:217385
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Rickets, Bulgi... OMIM:277440
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Micrognathia, Genu valgum, Broad phalanx, Bilate... ORPHA:56304
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Depressed nasal bridge, Metaphyseal dysplasia, Craniosynostosis... OMIM:614732
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Micrognathia, Prominent nasal bridge, Inguinal hernia, Joint h... OMIM:613544
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery ste... ORPHA:3427
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vert... ORPHA:89936
Acrocephalopolydactylous Dysplasia
Micromelia, Omphalocele, Postaxial hand polydactyly, Craniosynostosis, Extrapulmonary lobar seque... OMIM:200995
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h... ORPHA:429
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Anterior rib c... OMIM:271665
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Lethargy, Choreoathetosis, Ataxia ORPHA:71277
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... ORPHA:980
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Dentinogenesis imperfecta, Rhizomelia, Recurrent pneumonia, Micromelia, Br... OMIM:613848
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, A... ORPHA:474
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... OMIM:620067
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Depressed nasal... OMIM:600373
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Omphalocele OMIM:614450
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect, Atelectasis, Camptodactyly of finger ORPHA:896
Achondroplasia
Depressed nasal bridge, Hip joint hypermobility, Rhizomelia, Anteverted nares, Limited elbow exte... ORPHA:15
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose OMIM:155050
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Aspiration pneumonia, Death in childhood, Bullet-shaped middl... OMIM:602535
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Pulmonary hypoplasia, Tracheomalacia, Micrognathia... OMIM:608022
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Prominent nasal tip, Proximal placement of thumb, Short nose ORPHA:502430
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Congenital diaphragmatic hernia, Short... OMIM:222448
Mesomelia-Synostoses Syndrome
Synostosis of joints, Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Umbilica... ORPHA:2496
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi... OMIM:264700
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... ORPHA:185
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... ORPHA:3121
Hypophosphatasia
Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metaphys... ORPHA:436
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinovarus, Aplasia/Hypopl... OMIM:108720
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbou... OMIM:618454
Alg9-Cdg
Micrognathia, Talipes equinovarus, Broad ischia, Abnormal bone ossification, Short nose, Ulnar de... ORPHA:79328
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Umbilical hernia, Anteverted nares, Genu valgum, Joint hypermobility, Ara... ORPHA:1035
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Prominent nasal bridge, Limited elbow extension and supination, J... ORPHA:401935
Alg12-Cdg
Recurrent pneumonia, Biventricular hypertrophy, Muscular ventricular septal defect, Intrauterine ... ORPHA:79324
Mietens Syndrome
Wide nasal bridge, Short nose, Avascular necrosis of the capital femoral epiphysis, Joint stiffne... ORPHA:2557
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Chromosome 9P Deletion Syndrome
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Sandal gap, Anteverted nares, Microgn... OMIM:158170
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Brachydactyly, Advanced ossifica... OMIM:614613
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi... ORPHA:1461
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Abnormal rib morphology, Camptodactyly of ... ORPHA:1836
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo... ORPHA:1529
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Anteverted nares, Micrognathia, Inguinal hernia... OMIM:247200
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Micrognathia, Congenital diaphragmatic hernia, Missing ri... ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Broad thumb, Clinodactyly, Anteverted nares, Micrognat... OMIM:616894
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Anteverted nares, Epiphy... ORPHA:1914
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Sotos Syndrome
Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect, Prolonged ne... OMIM:117550
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Joint hypermobility, Hip dysplasia, Clinodactyly of the 5th finge... OMIM:617991
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Ne... OMIM:187601
Constricting Bands, Congenital
Abnormal lung lobation, Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis OMIM:217100
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Recurrent fract... ORPHA:93160
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose ORPHA:261120
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humerora... OMIM:251230
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Congenital diaphragm... ORPHA:991
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, I... OMIM:184250
Schisis Association
Micromelia, Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Intrauterine growth retardation, Dilated cardiomyopathy, Ataxia ORPHA:66634
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Hip dislocation, Flared metaphysis, Microgn... OMIM:309350
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abn... ORPHA:321
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Short nose OMIM:618577
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Micrognathia, Mandibular aplasia, Short nose ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Vacterl/Vater Association
Intrauterine growth retardation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs... ORPHA:887
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Increased suscepti... OMIM:241500
Osteopathia Striata With Cranial Sclerosis
Wide nasal bridge, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Br... OMIM:300373
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia, Neonatal death OMIM:245650
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Maxillonasal Dysplasia
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A... ORPHA:1248
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the lon... OMIM:601559
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia, Osteoarthritis ORPHA:93283
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ... OMIM:617102
Triploidy
Micrognathia, Finger syndactyly, Omphalocele, Decreased skull ossification ORPHA:3376
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Micrognathia, Diastasis r... ORPHA:254519
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Joint hypermobility, Bowing of the long bones, Decreas... OMIM:616229
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Atrophic scars, Inguinal hernia, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Adduct... OMIM:615539
Hall-Riggs Syndrome
Wide nasal bridge, Abnormal epiphysis morphology, Abnormal dental enamel morphology, Joint stiffn... ORPHA:2107
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... OMIM:166250
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Hypoplasia of the... ORPHA:2249
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocar... OMIM:616037
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Osteopenia, Rhizomelia, Depressed nasal bridge, Short nose, Small epiphyses, Genu valg... OMIM:271510
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, 2-5 finger cutaneous syndactyly, Brachydactyly, Sho... OMIM:601224
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, A... ORPHA:439822
Antley-Bixler Syndrome
Choanal atresia, Camptodactyly of finger, Joint stiffness, Femoral bowing, Anteverted nares, Arac... ORPHA:83
Opitz Gbbb Syndrome
Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology, Congenital diaphragmatic herni... ORPHA:2745
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Coarctation of aorta, Ompha... ORPHA:1199
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Depressed nasal bridge, Proximal femoral epiphysiolysis, Short fourth metatarsal, Ove... OMIM:616723
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Pulmonary hemorrhage, Transient ischemic attack, Hemothorax, Cyanosis, Is... ORPHA:2038
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Foam cells, Hypoxemia ORPHA:747
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Short nose, Short foot, Short... OMIM:602342
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia ORPHA:2867
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hip contracture, Hernia, Talipes equinovarus, Flexion contracture ... OMIM:193700
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Distal Duplication 18Q
Choanal atresia, Deviation of finger, Camptodactyly of finger, Anteverted nares, Micrognathia, Pr... ORPHA:1716
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent lower respira... OMIM:616726
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Mesomelic/r... ORPHA:2347
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Depressed nasal bridge, Hypoplasia of the o... ORPHA:485
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Diffi... OMIM:610978
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Underdeveloped nasal alae, Absent radius, Oligod... OMIM:263650
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Increased susceptibility to fractures, Join... ORPHA:561
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Talipes equinova... ORPHA:373
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Joint stiffness, Micrognathia, Anteve... ORPHA:1895
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Brachydactyly, Cam... OMIM:613604
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Joint hypermobility OMIM:618218
Perlman Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Inguinal hernia, Femoral hernia, Short nose ORPHA:2849
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... ORPHA:93352
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Wrist hypermobility, Narrow nasal bridge, Inguinal hernia, Joint hypermobility, Hip d... ORPHA:544503
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Stickler Syndrome Type 1
Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Joint hypermobility, Oste... ORPHA:90653
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Horiz... OMIM:618019
Osteoglosphonic Dysplasia
Choanal atresia, Rhizomelia, Anteverted nares, Micrognathia, Inguinal hernia, Brachydactyly, Abno... ORPHA:2645
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Anteverted nares, Spin... OMIM:617877
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abnormality of connective tissue, Cutis marmorata, Abdominal aortic aneurys... ORPHA:91387
Peho-Like Syndrome
Short nose, Tapered finger OMIM:617507
Catel-Manzke Syndrome
Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, Ventricular septal defect, Ov... OMIM:616145
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur... ORPHA:2772
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Aortic Arch Interruption
Abnormal heart morphology, Cyanosis, Truncus arteriosus, Ventricular septal defect, Bicuspid aort... ORPHA:2299
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depressed nasal bridge... ORPHA:85166
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Diasta... OMIM:257920
Opsismodysplasia
Hypoplastic ischia, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, Metap... OMIM:258480
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Wide... OMIM:229850
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Micrognathia, Congenital contracture, Short nose OMIM:615042
Trisomy 18
Choanal atresia, Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly o... ORPHA:3380
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Abnormal bone ossification, Diaphyseal undertubulation, Met... ORPHA:175
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Pneumonia, Acrocyanosis ORPHA:1867
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
3M Syndrome
Thin ribs, Hypoplastic ischia, Congenital hip dislocation, Micromelia, Slender long bone, Abnorma... ORPHA:2616
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Low hanging columella, Short ... OMIM:617752
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Nasal polyposis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Abnorm... ORPHA:183
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lipoid pneumonia, Inguinal hernia OMIM:620326
Cutis Laxa, Autosomal Recessive, Type Ic
Wide nasal bridge, Osteopenia, Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosi... OMIM:613177
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg... OMIM:224400
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration ORPHA:70589
Williams Syndrome
Death in early adulthood, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve... ORPHA:904
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Depressed nasal ridge, Broad nasal tip, Hypoplastic cervical vert... ORPHA:79345
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Hypoplasia of the odontoid process, Clinodactyly, Radial dev... OMIM:305400
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Anteverted nares, Joint hypermobility, Spina bifida occulta, Reduced bone mine... ORPHA:1185
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera... ORPHA:157215
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation,... ORPHA:453510
Premature Aging Syndrome, Penttinen Type
Thin ribs, Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Short foot, Sh... OMIM:601812
Hypertrichosis Cubiti
Rhizomelia, Prominent nasal bridge, Micromelia, Joint hypermobility ORPHA:2220
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Symphalangism affecting the ... ORPHA:2547
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcutaneous adi... OMIM:608612
Thanatophoric Dysplasia
Abnormal ilium morphology, Depressed nasal bridge, Micromelia, Joint stiffness, Joint hypermobili... ORPHA:2655
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Clinodactyly, Umbilical hern... OMIM:616331
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Anteverted nares, Rocker bottom foot, Short nose OMIM:618506
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Absent nasal bri... OMIM:612813
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equin... ORPHA:536467
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi... OMIM:309801
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Respiratory tract infection, 2-3 toe syndactyly, Long fingers, Flexion contrac... OMIM:218000
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
ERI1-related disease
Osteopenia, Depressed nasal bridge, Slender metacarpals, Oligodactyly, Micrognathia, Limited elbo... OMIM:608739
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Flexion contractur... OMIM:613870
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Depressed nasal bridge, Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wre... OMIM:618870
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma... ORPHA:289157
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Broad columella, Di... ORPHA:488434
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Depressed nasal ridge, Short il... ORPHA:3003
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Emphysema, Congenital diaphragmatic hernia OMIM:614100
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Keutel Syndrome
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Peripheral pulmonary a... OMIM:245150
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Pneumonia, Bulbous nose, Antever... OMIM:617809
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal... ORPHA:1329
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m... OMIM:305600
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Joint contracture, Short nose OMIM:615419
Atelosteogenesis Type I
Rhizomelia, Pulmonary hypoplasia, Absent or minimally ossified vertebral bodies, Micrognathia, Ta... ORPHA:1190
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, Loss of ambulation, Choreoathetosis ORPHA:391428
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Omphalocele, Postaxial hand polydactyly OMIM:603194
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Joint stiffness, Short meta... ORPHA:968
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Joint stiffness, Genu valgum, Abnormal metacarpal morpho... ORPHA:1295
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto... OMIM:616007
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Hip d... ORPHA:198
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Micrognathia, Short humerus, Short nose... ORPHA:93328
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Toe syndactyly, Limitation of joint mobility... ORPHA:93259
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Underdeveloped nasal alae, Cutaneous finger syndactyly, Limited elbo... OMIM:618419
Kyphomelic Dysplasia
Depressed nasal bridge, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysi... OMIM:211350
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... ORPHA:99104
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Genu valgum, Reduced bone mineral density, Short nose ORPHA:2983
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Wide nasal bridge, Depressed nasal bridge, Metaphyseal spur... OMIM:618188
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Short nose, Joint hypermobility OMIM:616459
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Micromelia, Long hallux, Micrognathia, Death in infancy,... OMIM:259775
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis OMIM:610773
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Spina bifida occulta, Short nose ORPHA:1514
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung lobation, Anomalous origin of left pulmonary artery from as... ORPHA:141127
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Limb undergrowth, Joint contracture, Recurrent lower respiratory t... OMIM:618005
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Wide nasal bridge, Atelectasis, Osteomyelitis, Joint hypermobility, Crani... ORPHA:2314
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis, Death in infancy, Neonatal death, Joint hypermobility OMIM:300219
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat... ORPHA:86822
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal denta... ORPHA:1798
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Depressed nasal bridge, Micromelia, Joint stiffness, Femoral bowing, Bowing of ... ORPHA:1860
C Syndrome
Depressed nasal bridge, Toe syndactyly, Limitation of joint mobility, Micromelia, Anteverted nare... ORPHA:1308
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Anteverted nares, Joint hyper... OMIM:615583
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Short toe, Camptodactyly ... ORPHA:1327
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Omphal... ORPHA:3186
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Congenital pulmonary airway malformation, Omphalocele, Ventricul... ORPHA:436252
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Recurrent respiratory infections, Narrow nasal bridge, Overla... OMIM:619383
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Short toe, Umbilical hernia, Spontaneous neonatal pneumothorax, Atrophic scars, Micro... OMIM:225410
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Pulmonary hypoplasia, Abnormal pelvis bone ossification, Micromelia, Prea... ORPHA:93271
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Osteopenia, Hip dislocation, Clinodactyly of the 2nd finger, Clinodactyly of the ... OMIM:620663
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased suscept... ORPHA:2176
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypoplastic ischia, Short nose, Polydactyly OMIM:616910
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Recurrent lower res... ORPHA:60033
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Clinodactyly, Umbili... ORPHA:369891
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal synostosis, ... OMIM:163400
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Sandal gap, Underdeveloped nasa... OMIM:616835
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Omphalocele, Abnormal cardiac septum morphology, Umbilical hernia ORPHA:2166
Fibrous Dysplasia Of Bone
Rickets, Abnormal rib morphology, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnor... ORPHA:249
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Micrognathia, Omphalocele OMIM:620458
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Fanconi Renotubular Syndrome 5
Emphysema, Genu valgum, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Gm1 Gangliosidosis
Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Coarse metaphyseal trabecularizat... ORPHA:354
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Clinodactyly of the 5th finger, Wide anterior fontanel, ... OMIM:619736
Lowry-Maclean Syndrome
Osteopenia, Choanal atresia, Micrognathia, Inguinal hernia, Congenital diaphragmatic hernia, Conv... ORPHA:2409
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extensio... OMIM:258315
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis, Arthritis OMIM:620321
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Breath-Holding Spells
Cyanosis OMIM:607578
Osteogenesis Imperfecta, Type Vii
Osteopenia, Dentinogenesis imperfecta, Rhizomelia, Wide anterior fontanel, Micromelia, Hypoplasti... OMIM:610682
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the nose, Anteverte... ORPHA:2162
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... OMIM:164900
Image Syndrome
Depressed nasal bridge, Micromelia, Metaphyseal dysplasia ORPHA:85173
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Broad-based gait, Reduced subcutaneous adipose tissue, Hip contracture, Ventricular sep... OMIM:619503
Hereditary Methemoglobinemia
Athetosis, Cyanosis ORPHA:621
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Dentinogenesis imperfecta, Radial bowing, Slender long bone, Femoral bowin... OMIM:610915
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Microretrognathia, Short nose, Postaxial hand polydactyly ORPHA:1389
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex... OMIM:210710
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Umbilical hernia, Diastasis r... OMIM:616638
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Anteverted nares, Micrognathia, Dorsocervical fat pad, Joint hyperm... ORPHA:391408
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ... OMIM:617866
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho... OMIM:613443
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Right aortic arch, Ventricu... OMIM:214800
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,... ORPHA:1234
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydact... ORPHA:93274
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Tetrasomy 5P
Wide nasal bridge, Overlapping toe, Micrognathia, Anteverted nares, Pericallosal lipoma, Talipes ... ORPHA:3309
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... ORPHA:3078
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Alkuraya-Kucinskas Syndrome