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,  6030460N08Rik,  TRIP230,  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
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Abnormal rib morphology, Rhizomelia, Abnormal epiphysis morphology, Bowing of the l... ORPHA:93267
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, Amelia, Pulmonary hy... OMIM:601163
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Micrognathia, Brachydactyly, Camptodactyly, Mesomelia, Short nose, Broad thumb, ... OMIM:618529
Fibrochondrogenesis 1
Depressed nasal bridge, Short nose, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Posterior... OMIM:228520
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Achondrogenesis Type 1A
Recurrent fractures, Multiple rib fractures, Micrognathia, Micromelia, Femoral hernia, Short nose... ORPHA:93299
Achondrogenesis Type 1B
Talipes equinovarus, Micrognathia, Micromelia, Abnormal rib morphology, Femoral hernia, Short nos... ORPHA:93298
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Pulmonary hypoplasia, Omphalocele, Overriding aorta, Intrauterine grow... OMIM:617022
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic... OMIM:263210
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Catel-Manzke Syndrome
Inguinal hernia, Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Um... OMIM:616145
Achondrogenesis
Inguinal hernia, Micrognathia, Micromelia, Abnormality of bone mineral density, Short nose, Umbil... ORPHA:932
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... OMIM:118651
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Rhizomelia, Talipes equinovarus, Omphalocele ORPHA:85174
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... ORPHA:3304
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Overridin... OMIM:601927
Miller-Dieker Syndrome
Anteverted nares, Short nose, Clinodactyly of the 5th finger, Omphalocele ORPHA:531
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... OMIM:616809
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Abnormal metacarpal ... ORPHA:2370
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... OMIM:300863
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Depressed nasal bridge, Hypoplastic ilia, Short ... OMIM:617895
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Omphalocele, Broad distal phalanx of ... OMIM:311300
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Metatropic Dysplasia
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... ORPHA:2635
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Omphalocele, Lower limb und... OMIM:236640
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short ribs, Depressed nasal bridge, Death in childhood, Metaphyseal widening, Brachydactyly, Limb... OMIM:618961
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly... OMIM:618618
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cor pulmonal... OMIM:263000
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge, Omphalocele ORPHA:1906
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
C Syndrome
Dislocated radial head, Micrognathia, Micromelia, Fused sternal ossification centers, Ulnar devia... OMIM:211750
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Depressed nasal bridge, Mi... OMIM:256050
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Micrognathia, Hernia of the abdominal wall, Brachydactyly, Mesomelia, Abnorma... ORPHA:1277
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Fibrochondrogenesis
Wide anterior fontanel, Short ribs, Depressed nasal bridge, Camptodactyly of finger, Brachydactyl... ORPHA:2021
Acromicric Dysplasia
Joint stiffness, Bulbous nose, Abnormality of femur morphology, Fifth metacarpal with ulnar notch... ORPHA:969
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... ORPHA:1686
Fetal Encasement Syndrome
Lower limb undergrowth, Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele OMIM:613630
Kagami-Ogata Syndrome
Diastasis recti, Flexion contracture, Inguinal hernia, Thin ribs, Depressed nasal bridge, Microgn... OMIM:608149
Distal Trisomy 15Q
Joint stiffness, Arachnodactyly, Micrognathia, Camptodactyly of finger, Omphalocele, Prominent na... ORPHA:1707
Acalvaria
Omphalocele, Abnormal lung lobation ORPHA:945
Cholesterol Pneumonia
Cyanosis, Death in infancy, Pneumonia OMIM:215030
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Omphalocele ORPHA:3366
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Abnormality of the abdominal wall, Metaphyseal cupping, Severe limb shortening, Thin ribs, Decrea... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Upper limb... ORPHA:93351
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Broad-based gait, Bicuspid aortic valve, Atrial septal defect, Ven... ORPHA:477817
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Depressed nasal bridge, Femoral bowing, Congenital hip disloc... OMIM:304120
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Clinodactyly, Short foot OMIM:300577
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscular ventricular septal... OMIM:115197
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ge... ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Abnormality of the abdomina... OMIM:602557
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Square pelv... ORPHA:166272
Developmental And Epileptic Encephalopathy 73
Inguinal hernia, Flexion contracture, Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormality of limb bone morphology, Limb undergrowth, Abnormal c... ORPHA:2204
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Wide anterior fontanel, Umbilical hernia, Omphalocele OMIM:275100
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Depressed nasal bri... ORPHA:93329
17Q21.31 Microduplication Syndrome
Clinodactyly of the 5th finger, Micrognathia, Short nose, Sandal gap, Anteverted nares, Toe synda... ORPHA:217340
Rhiny
Anteverted nares, Short nose, Inguinal hernia OMIM:180360
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Micromelia, Short nose, Pul... OMIM:200600
Achondrogenesis, Type Ib
Inguinal hernia, Short ribs, Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral... OMIM:600972
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Short ribs, Bilateral talipes eq... OMIM:269250
Kyphomelic Dysplasia
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Large hands, Miss... ORPHA:1801
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Monosomy 5P
Recurrent fractures, Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand, Abnormali... ORPHA:281
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Short nose, Genu valgum, Short ... OMIM:614078
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... ORPHA:93296
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Micrognathia, Brachydactyly, Micromelia, Abnormal rib morph... ORPHA:2145
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Sagittal craniosy... OMIM:201000
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Short nose, Pulmonary hypoplasia, Bowing of the long bones, Omphalocele, ... ORPHA:90652
Trigonocephaly 1
Omphalocele, Craniosynostosis OMIM:190440
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lung lobation, Abnormal metacarpa... ORPHA:2631
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... OMIM:601612
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Depressed nasal bridge, Small hand, Micrognathia, Short nose, Sagittal ... OMIM:145420
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Pulmonary hypoplasia, Small epiph... OMIM:184260
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Omphalocele
Omphalocele ORPHA:660
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal... ORPHA:93430
Diastrophic Dysplasia
Joint stiffness, Hypoplastic cervical vertebrae, Increased bone mineral density, Depressed nasal ... ORPHA:628
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... ORPHA:439
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Small hand, Narrow nose, Short phalanx of finger, Limited elbo... OMIM:180870
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Scarring, Coxa valga, Hiatus hernia, Inguinal hernia, Depressed nasal... ORPHA:1901
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short toe, Short phalanx of finger, Tapered finger, Camptodactyly, Long fingers, Sh... OMIM:613458
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... ORPHA:2639
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Cardiomegaly, Double outle... OMIM:306955
Ollier Disease
Joint stiffness, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal metaphysis morph... ORPHA:296
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Donnai-Barrow Syndrome
Wide anterior fontanel, Congenital diaphragmatic hernia, Depressed nasal bridge, Short nose, Omph... ORPHA:2143
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Perimembranous ventricular septal defect, Camptodactyly, Muscula... OMIM:618804
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Micr... OMIM:601561
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Flexion contracture, Inguinal he... ORPHA:254528
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares OMIM:614069
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... OMIM:616897
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Myocardial fibrosis, Oxygen desaturation on ... ORPHA:2302
Pallister-Hall-Like Syndrome
Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polydactyly, Short n... OMIM:241800
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... OMIM:251450
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Inguinal hernia, Trac... OMIM:156550
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... ORPHA:1240
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Narrow nose, Micromelia, Limb underg... OMIM:269870
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Glutamine Deficiency, Congenital
Flexion contracture, Depressed nasal bridge, Micromelia, Neonatal death, Camptodactyly, Short nos... OMIM:610015
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium, Pleural effusion ORPHA:2414
Simpson-Golabi-Behmel Syndrome, Type 2
Talipes equinovarus, Inguinal hernia, Recurrent upper respiratory tract infections, Congenital hi... OMIM:300209
Mosaic Trisomy 1
Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Pulmonary hypoplasia, Complet... ORPHA:1692
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... OMIM:617478
Acrocephalopolydactyly
Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short nose, Short long bone ORPHA:221054
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta, Intrauterine growt... ORPHA:1110
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Thoracomelic Dysplasia
Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Abnormal pelvic gird... ORPHA:1803
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Omphaloce... OMIM:265380
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, ... OMIM:302950
Opsismodysplasia
Joint stiffness, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Depressed nasal bri... ORPHA:2746
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Hypoplastic pelvis, R... OMIM:616300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Hypoxemia, Absent bronchoalveolar surfactant-protein C, Nodular pattern on ... OMIM:610921
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intrauterine growth retardation, Death in childhood, Ventricular septal defect, Enamel hypoplasia... OMIM:243150
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... ORPHA:3426
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fontanel, Increa... ORPHA:163649
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Secundum atrial septal defect, Hypoxemia, Cyanosis, Dextrocardia... ORPHA:2257
Focal Dermal Hypoplasia
Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, Omphalocele, Diastasis recti... ORPHA:2092
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Short humerus, ... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Omphalocele, X-Linked
Omphalocele OMIM:310980
Acrodysostosis
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Hypoplasia of the radius, Depresse... ORPHA:950
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Omphalocele, Umbilical hernia, Abnormal heart morphology ORPHA:254534
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Pulmonary hypoplasia, Transposit... OMIM:313850
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Desquamative interstitial pneumonitis, Cyanosis, Intraalveolar ph... OMIM:265120
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Depressed nasal ridge, Short ribs, Microm... ORPHA:1842
Developmental And Epileptic Encephalopathy 89
Talipes equinovarus, Microretrognathia, Flexion contracture, Depressed nasal bridge, Death in chi... OMIM:619124
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Convex n... OMIM:250230
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... ORPHA:371428
Axial Spondylometaphyseal Dysplasia
Osteopenia, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sciatic notch, Sho... ORPHA:168549
Femoral-Facial Syndrome
Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Sho... ORPHA:1988
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy... ORPHA:1335
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... ORPHA:1350
Trisomy 1Q
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Campt... ORPHA:261344
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Depressed nasal ridge, Overlapping fingers, Micromelia, Camptodact... OMIM:601016
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Micrognathia, Short nose, Joint hyperflexibility ORPHA:1695
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short metacarpal OMIM:611263
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Convex nasal ridge, Thin ribs, Limb undergrowth,... OMIM:166210
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Congenital hip dislocation, Wide nose, Short nose ORPHA:217385
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Depressed nasal bridge... OMIM:614732
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Deviation of finger ORPHA:1450
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Depressed nasal bridge, Brachydactyly, Bowing of the long bones, Acromesomelia, ... ORPHA:40
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis morphology, Abnormal metap... ORPHA:177
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... ORPHA:363444
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Camptodactyly of finger, Short nose, Recurrent pneumonia, Death in infancy ORPHA:1495
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Omphalocele OMIM:601357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Thin ribs, Micrognathia, Metaphyseal cupping of metacarpals, Abnormality o... ORPHA:163966
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Depressed nasal bridge, Micrognathia, Radioulnar synostosis, Short nose, Bowing... ORPHA:171839
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices OMIM:122900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... ORPHA:79126
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Prune belly, Cervical ribs, Omphalocele, Preaxial hand polydactyly OMIM:601389
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Short metacarpal, Abnormally... ORPHA:1427
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Short nose, Pulmonary hypoplasia, Ompha... OMIM:200995
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:277440
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Omphalocele OMIM:614450
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Knee osteoar... ORPHA:93284
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Lethargy, Cyanosis ORPHA:71277
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Arachnodactyly, Emphysema, Hip dislocation,... ORPHA:171719
Jeune Syndrome
Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morpho... ORPHA:474
Codas Syndrome
Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxity, Depressed ... OMIM:600373
Hypochondroplasia
Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly, Genu varum, Micromelia... ORPHA:429
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ... OMIM:215140
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Depressed nasal bridge, Clinodac... ORPHA:96334
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... OMIM:620067
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Miscarriage, Limitation of joint mobility, Talipes equinovarus, Flexion contr... ORPHA:1865
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Micrognathia, Hypoplasti... OMIM:614524
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Donnai-Barrow Syndrome
Wide anterior fontanel, Short sternum, Congenital diaphragmatic hernia, Broad nasal tip, Depresse... OMIM:222448
Right Atrial Isomerism
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Inguinal hernia, Short ribs, Bowing of the arm, Brachydactyly, Neo... OMIM:269860
Mesomelia-Synostoses Syndrome
Joint stiffness, Bulbous nose, Abnormality of femur morphology, Convex nasal ridge, Clinodactyly ... ORPHA:2496
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Cyanosis, Right aortic... ORPHA:980
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Alg12-Cdg
Abnormal adipose tissue morphology, Muscular ventricular septal defect, Camptodactyly, Biventricu... ORPHA:79324
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Convex nasal ridge, Inguinal hernia, Small hand, Cone-shaped epip... ORPHA:3121
Mietens Syndrome
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... ORPHA:2557
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Short nose, Rhizomelia,... OMIM:108720
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosis of carpal bones, Abnormality ... ORPHA:1836
Beta-Mercaptolactate Cysteine Disulfiduria
Convex nasal ridge, Arachnodactyly, Micromelia, Genu valgum, Sandal gap, Umbilical hernia, Anteve... ORPHA:1035
Achondroplasia
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... ORPHA:15
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long b... ORPHA:1505
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... ORPHA:1508
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Short ribs, Depr... ORPHA:50945
Dilated Cardiomyopathy With Ataxia
Ataxia, Dilated cardiomyopathy, Intrauterine growth retardation, Muscular ventricular septal defect ORPHA:66634
Diaphanospondylodysostosis
Talipes equinovarus, Depressed nasal ridge, Tracheomalacia, Inguinal hernia, Depressed nasal brid... OMIM:608022
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Pericardial effusion, Pleu... ORPHA:199241
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Micrognathia, Abnormal rib morphology, Missing ribs, Omphalocele... ORPHA:1834
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Recurrent upper respiratory tract infections, Cyanosis, D... ORPHA:95430
Marshall-Smith Syndrome
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... OMIM:602535
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... ORPHA:1529
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Clinodactyly of the 5th finger, Joint contracture of the hand,... OMIM:247200
Chromosome 9P Deletion Syndrome
Inguinal hernia, Clinodactyly of the 4th toe, Depressed nasal bridge, Micrognathia, Tapered finge... OMIM:158170
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Depressed nasal bridge, Micromelia, Short nose, Hip subluxation, Posterior rib cup... OMIM:271665
Alg9-Cdg
Depressed nasal bridge, Lipodystrophy, Short nose, Rhizomelia, Pulmonary hypoplasia, Omphalocele,... ORPHA:79328
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Osteopenia, Depressed nasal bridge, Femoral bowing, Short femo... OMIM:616723
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Wide anterior fontanel, Inguinal hernia, Osteopenia, Micrognathia, Micromelia, Short p... OMIM:225410
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Micrognathia, Brachydactyly, Short phalanx of finger, Syndactyly, Camptod... OMIM:616894
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short ribs, Depressed nasal bridge, Iliac crest serration, Micromelia, Hypop... OMIM:613320
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, In... OMIM:184250
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supination, Pulmo... ORPHA:401935
Schisis Association
Micromelia, Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Pneumonia, Hypoxemia, Lung abscess, Recurrent ... OMIM:610910
Kennerknecht syndrome
Toe clinodactyly, Convex nasal ridge, Omphalocele, Acetabular dysplasia, Toe syndactyly OMIM:600908
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Chung-Jansen Syndrome
Micrognathia, Tapered finger, Short nose, Clinodactyly, Joint hypermobility, Anteverted nares OMIM:617991
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Depresse... ORPHA:457395
Osteoglophonic Dysplasia
Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short nose, Rhizomelia, Bowing of the lo... OMIM:166250
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Micrognathia, Short nose, Toe syndactyly ORPHA:261120
Osteopathia Striata With Cranial Sclerosis
Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... OMIM:300373
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Situs inver... ORPHA:991
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Bowing of the legs, Limited elbow extension ORPHA:156728
Al-Raqad Syndrome
Brachydactyly, Sandal gap, Short nose, Joint laxity OMIM:616459
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... OMIM:309350
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Convex nasal ridge, Hypoplasia of the radius, Synostosis of ca... ORPHA:3258
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Vacterl/Vater Association
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypopla... ORPHA:887
Hypophosphatasia, Infantile
Bowing of the legs, Metaphyseal cupping, Craniosynostosis, Short ribs, Decreased calvarial ossifi... OMIM:241500
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Choanal atresi... ORPHA:1914
Fryns Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnorma... ORPHA:2059
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Multiple rib fractures, Osteopenia, Decreased calvarial o... OMIM:616229
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Emphyse... ORPHA:436
Constricting Bands, Congenital
Bladder exstrophy, Ectopia cordis, Abnormal lung lobation, Omphalocele, Gastroschisis OMIM:217100
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Depressed nasal bridge, Micrognathia, Coat hanger sign of ribs,... ORPHA:254519
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... ORPHA:2249
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Limitation of knee mobility, Abnormal bone structure... ORPHA:321
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Short nose, Mandibular aplasia, Anteverted nares ORPHA:1832
Pde4D Haploinsufficiency Syndrome
Broad metacarpals, Broad phalanx, Prominent nasal tip, Short toe, Short metatarsal, Depressed nas... ORPHA:439822
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretro... OMIM:236500
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Codas Syndrome
Short metacarpal, Depressed nasal bridge, Congenital hip dislocation, Brachydactyly, Abnormal pel... ORPHA:1458
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Cy... OMIM:610913
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... ORPHA:2019
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Talipes equinovar... OMIM:609945
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Triploidy
Micrognathia, Decreased skull ossification, Finger syndactyly, Omphalocele ORPHA:3376
Hall-Riggs Syndrome
Abnormal dental enamel morphology, Joint stiffness, Brachydactyly, Limb undergrowth, Abnormal epi... ORPHA:2107
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Brachydactyly, Short nose, Underdeveloped nasal alae, Wide nasal... OMIM:601224
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge OMIM:616430
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Micrognathia, Short nose, Clinodactyly, Anteverted nares, Wide nasal bridge OMIM:618577
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage mat... ORPHA:2347
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Respiratory tract infection, Pneumonia, Hypoxemia ORPHA:70587
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad hallux phalanx, Short hallux, Short nose, Broad thumb, Bicoronal sy... ORPHA:93258
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Inguinal hernia, Hypoplas... OMIM:602613
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Short tibia, Micr... OMIM:251230
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Antley-Bixler Syndrome
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... ORPHA:83
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Hypoplasia of the rad... OMIM:617604
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Opitz Gbbb Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Coarctation of aorta, Ven... ORPHA:2745
Acromesomelic Dysplasia 1
Broad metacarpals, Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Long hallux... OMIM:602875
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Anterior bowing of long bones, Bowing of the long bones, ... OMIM:255800
Short Stature, Brussels Type
Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage ORPHA:2867
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Short nose, Pulmonary hypoplasia, Contracture of the p... OMIM:601559
3Mc Syndrome 1
Abnormality of the abdominal wall, Wide anterior fontanel, Clinodactyly of the 5th finger, Corona... OMIM:257920
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Short nose, Rocker bottom foot, Talipes equinovarus, Ulnar deviati... OMIM:193700
Distal Trisomy 18Q
Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finger, Deviation ... ORPHA:1716
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital hip dislocation, Short nose, Umb... ORPHA:373
Pierpont Syndrome
Short toe, Prominent fingertip pads, Broad nasal tip, Short nose, Wide nose, Short foot, Short pa... OMIM:602342
Osteoglosphonic Dysplasia
Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Brachydactyly, Rhizo... ORPHA:2645
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Increased susceptibili... OMIM:146300
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Marshall-Smith Syndrome
Craniosynostosis, Reduced bone mineral density, Slender long bone, Short nose, Choanal atresia, I... ORPHA:561
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Edinburgh Malformation Syndrome
Joint stiffness, Slender finger, Micrognathia, Long fingers, Ulnar deviation of finger, Short nos... ORPHA:1895
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Short nose, Respiratory tr... OMIM:218000
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Short metacarpal, Flexion contracture, Absent thumb, Inguinal hernia, Microg... OMIM:263650
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Micrognathia, Brachydactyly, Camptodactyly, Short nose, Clinodactyly OMIM:613604
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Abnormality of the... ORPHA:1248
Perlman Syndrome
Inguinal hernia, Micrognathia, Femoral hernia, Short nose, Anteverted nares, Wide nasal bridge ORPHA:2849
Esophageal Atresia
Cyanosis, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pulmo... ORPHA:1199
Microphthalmia With Limb Anomalies
Flared nostrils, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Depressed nasal bridge, C... OMIM:206920
Stickler Syndrome Type 1
Osteoarthritis, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal epiphysis mor... ORPHA:90653
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Baker-Gordon Syndrome
Short nose, Prominent nasal tip, Joint laxity OMIM:618218
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Decreased calvarial ossification, Micromelia, Abnormal rib morphology, Joint... ORPHA:2772
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hypermobility, Inguinal ... ORPHA:544503
Trisomy 18
Microretrognathia, Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyly o... ORPHA:3380
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Transient ischemic attack, Hemothorax, Pleural empyema, Pulmonary hemorrh... ORPHA:2038
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Short nose, Congenital contracture, Death in infancy OMIM:615042
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Cutis marmorata, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transi... ORPHA:91387
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Inguinal hernia, Umbilical hernia OMIM:613544
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Partial duplication... ORPHA:363417
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Slender long bone, Spina bifida occulta, Short nose, Anteverted nar... ORPHA:1185
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Opsismodysplasia
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Depressed nasal bridge, Hypo... OMIM:258480
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... ORPHA:63446
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Depressed nasal bridge, Micromelia, Hypoplas... ORPHA:85166
Hypertrichosis Cubiti
Micromelia, Prominent nasal bridge, Joint hyperflexibility, Rhizomelia ORPHA:2220
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Short n... ORPHA:2547
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal bridge, Neonatal death, Bila... OMIM:619859
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Rachiti... ORPHA:157215
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni... ORPHA:93352
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Williams Syndrome
Gait imbalance, Abnormal cardiac septum morphology, Ataxia, Stroke, Abnormal carotid artery morph... ORPHA:904
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Short nose OMIM:615539
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Bulbous nose, Coxa vara, Delayed ossification of... OMIM:271510
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Flexion contracture, Micrognathia, Loss of truncal subcutaneous adipose tissue, ... OMIM:608612
Verheij Syndrome
Short 5th finger, Short nose, Clinodactyly, Hip dislocation, Vertebral fusion, Wide nasal bridge OMIM:615583
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Intraalveolar phospholipid accumulation, Foam cells, Hypoxemia ORPHA:747
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Short middle phalanx of toe, S... OMIM:101600
Aarskog-Scott Syndrome
Inguinal hernia, Hyperextensibility of the finger joints, Brachydactyly, Syndactyly, Short 5th fi... OMIM:305400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Depressed nasal bridge, Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Short long bone, M... OMIM:618019
Acromesomelic Dysplasia 4
Broad phalanx, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Umbilical hernia, Prominent del... OMIM:619636
3M Syndrome
Bulbous nose, Clinodactyly of the 5th finger, Thin ribs, Congenital hip dislocation, Hypoplastic ... ORPHA:2616
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Abnormal heart morphology ORPHA:1867
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Partial duplication of thumb phalanx, Mic... OMIM:616331
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cyanosis, Pulmonary artery hypoplasia, Anomalous origin of left co... ORPHA:2326
Fryns Syndrome
Short distal phalanx of finger, Microretrognathia, Joint contracture of the hand, Prominent finge... OMIM:229850
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short nose... OMIM:614613
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Thanatophoric Dysplasia
Joint stiffness, Depressed nasal bridge, Brachydactyly, Micromelia, Abnormal ilium morphology, Pu... ORPHA:2655
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Cutis marmorata,... ORPHA:183
Clark-Baraitser Syndrome
Low hanging columella, Depressed nasal bridge, Short nose, Sandal gap, Clinodactyly, Anteverted n... OMIM:617752
Focal Dermal Hypoplasia
Hiatus hernia, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Umbilical hernia, Omp... OMIM:305600
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cartilage-Hair Hypoplasia
Depressed nasal ridge, Abnormally ossified vertebrae, Depressed nasal bridge, Aplasia/Hypoplasia ... ORPHA:175
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Limb undergrowth, Abnormal metacarpal morphology, ... ORPHA:3429
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Flexion contracture, Tapered finger, Short nose, Prominent nasal bridge, Contractur... OMIM:613870
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Congenital bilateral hip disloca... ORPHA:453510
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Inguinal hernia, Generalized joint laxity, Thin ribs, Osteopenia, Micr... OMIM:613848
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Duplication of the distal p... OMIM:268310
Apnea, Central Sleep
Cyanosis OMIM:207720
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Narrow gre... OMIM:224400
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Calcaneal epiphyseal stippling, Depressed nasal ridge, Abnormal o... ORPHA:79345
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose, Hypoplastic ischia, Polydactyly OMIM:616910
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... OMIM:309801
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synos... ORPHA:968
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Cyanosis, Displacement of the papilla... ORPHA:1329
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal he... OMIM:601186
Autosomal Dominant Omodysplasia
Short 1st metacarpal, Depressed nasal bridge, Short humerus, Micrognathia, Short nose, Rhizomelia... ORPHA:93328
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Prominent fingertip pads, Broad nasal tip, Recurrent upper respiratory tract... ORPHA:391372
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndactyly ORPHA:1514
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Genu valgum, Spina bifida occulta, Reduced bone mineral density ORPHA:2983
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Omphalocele OMIM:603194
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Dislocation of the femoral head, Delayed epiphyseal ossification, Metaphyseal irregularity, Flexi... OMIM:616007
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
C Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Hand pol... ORPHA:1308
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Short toe, Depressed nasal bridge, Camptodactyly of finger, Brach... ORPHA:1327
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Cya... ORPHA:99104
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... ORPHA:86822
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Hypoplasia of the ulna... ORPHA:3186
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Convex nasal ridge, Bifid distal phalanx of toe, Limited elbow extension, Bifid ... OMIM:618419
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Joint stiffness, Abnormality of the nares, Brachydactyly, Abnorma... ORPHA:1295
Sponastrime Dysplasia
Depressed nasal bridge, Hypoplasia of the nasal bone, Short nose, Genu valgum, Hip subluxation, S... ORPHA:93357
Pfeiffer Syndrome Type 2
Tracheomalacia, Small hand, Depressed nasal bridge, Broad hallux phalanx, Short hallux, Deviation... ORPHA:93259
Pyknoachondrogenesis
Sclerosis of skull base, Abnormal iliac wing morphology, Depressed nasal ridge, Short ribs, Micro... ORPHA:3003
Hsd10 Disease, Infantile Type
Loss of ambulation, Cyanosis, Choreoathetosis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... ORPHA:141127
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Abs... ORPHA:93271
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Osteopenia, Broad nasal tip, Depressed nasal tip, Broad f... ORPHA:488434
Raine Syndrome
Long hallux, Increased bone mineral density, Depressed nasal bridge, Micrognathia, Brachydactyly,... OMIM:259775
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... OMIM:211350
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Diastasis recti, Wide anterior fontanel, Depressed nasal bridge, ... OMIM:616638
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intrauterine growth retardation, Congenital pulmonary airway malformat... ORPHA:436252
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... ORPHA:2176
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose OMIM:613443
Breath-Holding Spells
Cyanosis OMIM:607578
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Short nose, Ulnar deviation of the hand or of fingers of the hand OMIM:122880
Cryptogenic Organizing Pneumonia
Pneumothorax, Cyanosis, Hypoxemia ORPHA:1302
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Bulbous nose, Clinodactyly of the 5th finger, Congenital diaphragmatic her... OMIM:618454
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Metaphyseal widening, Brachydactyly, Irregular epiphyses, Mesomelia, Broad thumb, Absent nasal br... OMIM:612813
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Short femur, Depressed nasal bridge, Femoral bowing, Hyp... ORPHA:1860
Omodysplasia 1
Limited knee flexion/extension, Limited knee flexion, Depressed nasal bridge, Increased fibular d... OMIM:258315
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Prominent nasal tip, Convex nasal ridge, 2-3 toe syndactyly, Microretrognathia, Finger joint hype... OMIM:618870
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Lowry-Maclean Syndrome
Convex nasal ridge, Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis, Osteopeni... ORPHA:2409
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Image Syndrome
Depressed nasal bridge, Metaphyseal dysplasia, Micromelia ORPHA:85173
Meier-Gorlin Syndrome 6
Microretrognathia, Depressed nasal ridge, Depressed nasal bridge, Tracheobronchomalacia, Short no... OMIM:616835
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... ORPHA:249
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia OMIM:614744
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... ORPHA:60025
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Dysostosis, Stanescu Type
Convex nasal ridge, Increased bone mineral density, Massively thickened long bone cortices, Abnor... ORPHA:1798
15Q11.2 Microdeletion Syndrome
Ataxia, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defec... ORPHA:261183
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Peho-Like Syndrome
Short nose OMIM:617507
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Type 1 collagen overmodification, Tibial bowing, Wide anterior fontanel, Rad... OMIM:610915
Hereditary Methemoglobinemia
Cyanosis, Athetosis ORPHA:621
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Congenital diaphragmatic hernia, Depressed nasal ridge, Hy... ORPHA:2162
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Micrognathia, Down-sloping shoulders, Deviation of the 5th toe, Slender toe, Wide... ORPHA:391408
Meckel Syndrome, Type 8
Talipes equinovarus, Depressed nasal ridge, Polydactyly, Postaxial hand polydactyly, Short nose OMIM:613885
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Congenital diaphragmatic hernia, Emphysema OMIM:614100
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Fibular hyp... OMIM:164900
Osteogenesis Imperfecta, Type Vii
Recurrent fractures, Coxa vara, Wide anterior fontanel, Bowing of the legs, Multiple rib fracture... OMIM:610682
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Inguinal hernia, Osteopenia, Femoral bowing, Elbow flex... OMIM:609220
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping toe, Low hanging columella, Flexion contracture, Overlapping fingers, Broad columella... OMIM:619383
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Geleophysic Dysplasia 1
Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... OMIM:231050
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... OMIM:214800
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia OMIM:228940
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Short nose, Microretrognathia, Recurrent respiratory infections ORPHA:1389
Gm1 Gangliosidosis
Joint stiffness, Depressed nasal ridge, Inguinal hernia, Aspiration pneumonia, Broad nasal tip, D... ORPHA:354
Ohdo Syndrome
Clinodactyly of the 5th finger, Depressed nasal bridge, Micrognathia, Short nose, Joint laxity, A... OMIM:249620
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Clinodactyly of the 5th finger, Broad nasal tip, Depressed nasal bridge, ... OMIM:619736
3C Syndrome
Finger syndactyly, Inguinal hernia, Abnormal hip bone morphology, Depressed nasal bridge, Microgn... ORPHA:7
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... OMIM:617866
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Death in infancy, Umbilical hernia, Omphalocele ORPHA:2241
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Omphalocele, Umbilical hernia, Abnormal lung lobation ORPHA:2166
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Syndactyly, Camptodactyly... ORPHA:369891
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Recurrent upper respiratory tract infections, Congenital hip dislocation, Short nos... ORPHA:3078
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Bulbous nose, Craniosynostosis, Long nose, Depressed nasal bridge, Short nose, Narrow greater sci... ORPHA:508533
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Shortening ... OMIM:601356
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Hiatus hernia, Flexion contracture, Congenit... OMIM:208050
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Pulmonary hy... ORPHA:99125
Oculodentodigital Dysplasia
Short nose, Umbilical hernia, Abnormal metaphysis morphology, Abnormal cortical bone morphology, ... ORPHA:2710
Thanatophoric Dysplasia Type 2
Limitation of joint mobility, Depressed nasal bridge, Brachydactyly, Micromelia, Abnormal metaphy... ORPHA:93274
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... ORPHA:335
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge, Prominent fingertip pads OMIM:300558
Caudal Duplication
Omphalocele ORPHA:1756
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Micrognathia, Synostosis of joints, Short nose, Underdeveloped nasa... ORPHA:1234
Distal Trisomy 5Q
Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Brachydactyly, Hypoplasia... ORPHA:96097
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Urticaria, Muscular ventricular septal defect, Falls, Ventri... OMIM:619503
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Peripheral pulmonary artery stenosis, Prematurely aged appearance, Progeroid fa... OMIM:123700
Tetrasomy 5P
Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus, Mic... ORPHA:3309
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Short distal phalanx of toe, Micrognathia, Short nose, Bilateral ... OMIM:619356
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1