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Gene: Trip11 MGI:1924393

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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,  2610511G22Rik,  6030460N08Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Tricuspid Atresia
Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarcta... ORPHA:1209
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Pulmo... OMIM:601163
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abn... ORPHA:93267
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... ORPHA:3035
Achondrogenesis Type 1A
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal... ORPHA:93299
Achondrogenesis Type 1B
Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Abn... ORPHA:93298
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Underdeveloped nasal a... OMIM:263210
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Cardiac Valvular Dysplasia 1
Atrial septal defect, Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargeme... OMIM:212093
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... OMIM:601927
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... OMIM:118651
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... ORPHA:3304
Achondrogenesis
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Ap... ORPHA:932
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted... OMIM:616809
Pseudodiastrophic Dysplasia
Talipes equinovarus, Omphalocele, Rhizomelia, Phalangeal dislocation ORPHA:85174
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Bowing of the long bones, Craniofacial hyperostosi... ORPHA:2484
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Omphalocele, Short nose, Anteverted nares ORPHA:531
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... ORPHA:2370
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... OMIM:300863
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Metatropic Dysplasia
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo... ORPHA:2635
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Small hand, Co... OMIM:618618
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic i... OMIM:617895
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Hernia of the abdominal wall, Convex nasal... ORPHA:1277
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Fetal Valproate Spectrum Disorder
Omphalocele, Short nose, Depressed nasal ridge ORPHA:1906
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nar... OMIM:211750
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... OMIM:215045
Trigonocephaly 1
Omphalocele, Short nose, Wide nasal bridge, Craniosynostosis OMIM:190440
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Pulmonary hypoplasia, Int... OMIM:617022
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Atelosteogenesis, Type Ii
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La... OMIM:256050
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, P... OMIM:618316
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Joint stiffness, Mi... ORPHA:1707
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Microgn... OMIM:618529
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... ORPHA:93329
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, Small hand, Abnormal femur mor... ORPHA:969
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fin... ORPHA:2021
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal he... ORPHA:477817
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Microgna... OMIM:608149
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L... ORPHA:2204
Acalvaria
Omphalocele, Abnormal lung lobation ORPHA:945
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... ORPHA:166002
Teebi Hypertelorism Syndrome 1
Omphalocele, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Micrognathia, S... OMIM:145420
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... OMIM:619371
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Clinodactyly, Short nose OMIM:300577
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Odontochondrodysplasia
Death in infancy, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa valga, Cone-... ORPHA:166272
Birk-Aharoni Syndrome
Inability to walk, Cryptorchidism, Muscular ventricular septal defect OMIM:620071
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri... OMIM:616749
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hip dysplasia, Short nose OMIM:618379
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Achondrogenesis, Type Ib
Inguinal hernia, Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossifi... OMIM:600972
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Short... ORPHA:217340
Asbestos Intoxication
Cyanosis, Atelectasis, Pleural thickening, Cor pulmonale, Abnormal pulmonary interstitial morphol... ORPHA:2302
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... OMIM:201000
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... OMIM:269250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Mic... OMIM:613320
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... ORPHA:1801
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Cyanosis, Ventricular septal defect, Pate... ORPHA:99050
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Wide anterior fontanel, Umbilical hernia, Depressed nasal bridge OMIM:275100
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Prominent nose, Horizontal rib... OMIM:616300
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Short me... OMIM:184260
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy OMIM:258320
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal lung lobation, Mesomelia, Abnormal ep... ORPHA:2631
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited... OMIM:180870
Diastrophic Dysplasia
Recurrent respiratory infections, Bowing of the long bones, Increased bone mineral density, Depre... ORPHA:628
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... ORPHA:2145
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia OMIM:618354
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... ORPHA:439
Omphalocele
Omphalocele ORPHA:660
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Scarring, Depressed nasal bridge, Osteomalacia, Abnormality of subcu... ORPHA:1901
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Patent ductus arteriosus, Overriding aorta, Ventricular septal d... OMIM:617021
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Wide anterior fontanel, Umb... ORPHA:2143
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma... ORPHA:2639
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Anteverted nares, Fractured radius, Decreased fi... OMIM:616897
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Muscular ventricular septal defect, Perimembranous ventricular s... OMIM:618804
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Inguinal hernia, Omphalocele, Depressed nasal bridge, Anteverted nares, O... ORPHA:254528
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Kniest Dysplasia
Hip contracture, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, ... OMIM:156550
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Symphalangism affecting the ph... ORPHA:2741
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acrocephalopolydactyly
Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly ORPHA:221054
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Congenital hip dislocation, Toe syndactyly, Sandal gap, Craniosynostosis, Prominent ... OMIM:609625
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... OMIM:600081
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Intrauterine growt... ORPHA:1110
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hyperflexibility, Short nose, Convex ... ORPHA:1695
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... OMIM:615524
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... ORPHA:1803
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathi... ORPHA:163649
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Finger clinodactyly, Pulmonary artery atresia, Absent distal int... ORPHA:1692
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial sept... OMIM:620070
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi... OMIM:614524
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla... ORPHA:3426
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De... ORPHA:950
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Dextrocardia, Secundum atrial septal defect, Pneumoth... ORPHA:2257
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Abnormal rib morphology, Rib fusion, ... ORPHA:1988
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterin... ORPHA:60041
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... OMIM:610921
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Omphalocele, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,... ORPHA:371428
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Conge... OMIM:243150
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... OMIM:313850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia ORPHA:254534
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Flexion c... OMIM:610015
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... ORPHA:2092
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... OMIM:302950
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Recurrent respiratory infections, Anteverted nares, Rhizomelia, Micromelia... ORPHA:1842
Trisomy 1Q
Microretrognathia, Omphalocele, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge... ORPHA:261344
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Opsismodysplasia
Recurrent respiratory infections, Abnormally ossified vertebrae, Depressed nasal bridge, Tapered ... ORPHA:2746
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han... OMIM:241800
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ... ORPHA:168549
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... ORPHA:171839
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, S... OMIM:269860
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... OMIM:265120
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Omphalocele, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wi... OMIM:619124
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Inguinal hernia, Prominent nasal bridge, Micrognathia, Broad nasal tip, Bilateral c... OMIM:613544
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... ORPHA:1335
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cr... ORPHA:1865
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Prune belly OMIM:601389
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Joint hyperflexibility, Acrome... ORPHA:40
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... ORPHA:177
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine... OMIM:215140
Codas Syndrome
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge,... OMIM:600373
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Inguinal hernia, Clinodactyly of the 5th finger, Short nose ORPHA:217385
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... OMIM:241530
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Short nose ORPHA:1495
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Lethargy, Cyanosis, Ataxia ORPHA:71277
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... ORPHA:429
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Acrocephalopolydactylous Dysplasia
Omphalocele, Micromelia, Craniosynostosis, Postaxial hand polydactyly, Pulmonary hypoplasia, Extr... OMIM:200995
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... ORPHA:56304
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e... ORPHA:96334
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Postaxial foot p... ORPHA:474
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Broad-based gait OMIM:614450
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Crypto... ORPHA:3121
Congenital Tricuspid Valve Dysplasia
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... ORPHA:555874
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger OMIM:155050
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Marshall-Smith Syndrome
Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox... OMIM:602535
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Joint stiffness, Bulbous nos... ORPHA:2496
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Wide anter... OMIM:222448
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... OMIM:108720
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... OMIM:608022
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... OMIM:620067
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, M... OMIM:618454
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short metatarsal, Adv... OMIM:614613
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Achondroplasia
Depressed nasal bridge, Anteverted nares, Rhizomelia, Hip joint hypermobility, Bowing of the legs... ORPHA:15
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa... ORPHA:980
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... OMIM:613848
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Anteverted nares, Micrognathia, Cryptorchidism, Abnormality of the ... OMIM:247200
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextroc... OMIM:208530
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Alg12-Cdg
Recurrent respiratory infections, Recurrent pharyngitis, Muscular ventricular septal defect, Recu... ORPHA:79324
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Shor... ORPHA:401935
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of th... OMIM:617991
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, ... OMIM:616894
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... ORPHA:1427
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Int... ORPHA:66634
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, Joint hyperflexibility, Um... ORPHA:1035
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... ORPHA:185
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... ORPHA:2557
Alg9-Cdg
Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone ossification, M... ORPHA:79328
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares, Aplastic cl... ORPHA:50945
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Abnormal rib morphology... ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... OMIM:602557
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... ORPHA:1529
Chromosome 9P Deletion Syndrome
Long toe, Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia... OMIM:158170
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary... ORPHA:991
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, S... ORPHA:1914
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Unilambdoid synostosis, Wide nasal bridge, Clinod... OMIM:618577
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Pneumotho... ORPHA:95430
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Ab... ORPHA:887
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Triploidy
Omphalocele, Finger syndactyly, Micrognathia, Cryptorchidism, Decreased skull ossification ORPHA:3376
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic arch morphology, Ab... ORPHA:2059
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... OMIM:616229
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... OMIM:255800
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal adipo... ORPHA:93160
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Micromelia ORPHA:63862
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose ORPHA:261120
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hypoplasia of t... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... OMIM:251230
Constricting Bands, Congenital
Omphalocele, Abnormal lung lobation, Gastroschisis, Ectopia cordis, Bladder exstrophy OMIM:217100
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... OMIM:608978
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathi... OMIM:300373
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Limitation of joint mobilit... ORPHA:171719
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Melnick-Needles Syndrome
Omphalocele, Short humerus, Recurrent respiratory infections, Hypoplastic scapulae, Coxa valga, M... OMIM:309350
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose ORPHA:1832
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Pde4D Haploinsufficiency Syndrome
Prominent nose, Micrognathia, Short metatarsal, Bilateral coxa valga, Short phalanx of finger, Br... ORPHA:439822
Hypophosphatasia, Infantile
Recurrent respiratory infections, Death in infancy, Micromelia, Bowing of the legs, Craniosynosto... OMIM:241500
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death OMIM:245650
Osteoglophonic Dysplasia
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... OMIM:166250
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... ORPHA:1716
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Microgna... ORPHA:254519
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptor... ORPHA:2745
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... OMIM:610913
Osteoglosphonic Dysplasia
Inguinal hernia, Rhizomelia, Anteverted nares, Choanal atresia, Micrognathia, Craniosynostosis, C... ORPHA:2645
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Short foot, Short finger, Short palm, Prom... OMIM:602342
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,... ORPHA:2772
Hall-Riggs Syndrome
Anteverted nares, Abnormal dental enamel morphology, Prominent nose, Joint stiffness, Wide nasal ... ORPHA:2107
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Abnormal ... ORPHA:1458
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Ulnar deviatio... OMIM:193700
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... OMIM:601224
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capital fem... OMIM:271510
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... ORPHA:1248
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... ORPHA:2633
Antley-Bixler Syndrome
Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly of finger, Recurrent fractures, ... ORPHA:83
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Short phalan... OMIM:263650
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Short... OMIM:617102
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cry... OMIM:264480
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Perlman Syndrome
Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridg... ORPHA:2849
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, C... OMIM:616723
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Fing... ORPHA:373
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of ... ORPHA:289157
Microphthalmia, Syndromic 9
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia... OMIM:601186
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Inguinal hernia, Arachnodactyly, Atrophic scars, Bilateral talipes equinovarus, Tal... OMIM:615539
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Catel-Manzke Syndrome
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarc... OMIM:616145
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Lozenge-shaped umbilicus, Ante... OMIM:305400
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bronchitis, C... ORPHA:1199
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Abnormal heart morphology, Acrocyanosis, Decreased testicular size ORPHA:1867
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Reduced bone miner... ORPHA:561
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Trisomy 18
Microretrognathia, Omphalocele, Choanal atresia, Camptodactyly of finger, Congenital diaphragmati... ORPHA:3380
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... ORPHA:1895
Microphthalmia With Limb Anomalies
Toe syndactyly, Depressed nasal bridge, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fu... OMIM:206920
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Camptodactyly, Clinodactyly, Sho... OMIM:613604
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorch... ORPHA:2326
3Mc Syndrome 1
Omphalocele, Single interphalangeal crease of fifth finger, Diastasis recti, Wide anterior fontan... OMIM:257920
Fryns Syndrome
Microretrognathia, Omphalocele, Anteverted nares, Rocker bottom foot, Proximal placement of thumb... OMIM:229850
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Baker-Gordon Syndrome
Joint laxity, Prominent nasal tip, Short nose OMIM:618218
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Kniest Dysplasia
Enlarged epiphyses, Depressed nasal bridge, Abnormality of the epiphysis of the femoral head, Dum... ORPHA:485
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility, Abnormal epiphysis morphology, Abnormal vertebral epiphys... ORPHA:90653
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ap... ORPHA:3429
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Hemothorax, Telangiectasia, Hypoxemia, Pulmonary arterioveno... ORPHA:2038
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... ORPHA:93352
Peho-Like Syndrome
Short nose, Tapered finger OMIM:617507
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Hyperextensibility at ... ORPHA:544503
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Anteverted nares, Sandal gap, Short toe, Clinodactyly of the 5th fi... OMIM:617877
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormality of connectiv... ORPHA:91387
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Short nose, Congenital contracture, Micrognathia OMIM:615042
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Emphyse... ORPHA:436
Opsismodysplasia
Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi... OMIM:258480
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Depr... OMIM:618019
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... ORPHA:63446
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... OMIM:101600
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Short palm, Shor... ORPHA:93328
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... OMIM:617752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... ORPHA:157215
Hypertrichosis Cubiti
Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia ORPHA:2220
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Dysmetria, Atrial sep... ORPHA:904
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Tibial bowi... ORPHA:453510
Acromesomelic Dysplasia 4
Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Rhizomeli... OMIM:619636
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Short ... ORPHA:1185
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Cryptorchidism, Joint contracture, Short nose OMIM:615419
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... OMIM:224400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... ORPHA:2547
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Abnor... ORPHA:175
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, Rocker bottom foot, Microme... ORPHA:2616
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... OMIM:608612
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot OMIM:618506
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Tibial bowing, Short palm, Joint contracture, Osteoporos... OMIM:601812
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:309801
Focal Dermal Hypoplasia
Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata,... OMIM:305600
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... OMIM:268310
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Abnormal p... ORPHA:183
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Hypoxemia, Foam cells ORPHA:747
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal sti... ORPHA:79345
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Partial du... OMIM:616331
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint ... ORPHA:2655
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism ORPHA:85173
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Thickened cortex of long bones, Small hand, Abnormal rib morphology,... ORPHA:488434
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... ORPHA:2928
C Syndrome
Omphalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromel... ORPHA:1308
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Flexion contracture, Prominent nas... ORPHA:391372
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Respiratory tract infection, Long fingers, Flexion contracture, Wide nasal bridge... OMIM:218000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ... OMIM:613870
Isolated Anencephaly
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Meckel Syndrome, Type 2
Omphalocele, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy ORPHA:391428
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent lower respiratory t... OMIM:616726
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... ORPHA:198
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Thin ribs, Ne... OMIM:300219
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydacty... ORPHA:93271
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pneumonia, Limited elbow movement... OMIM:617809
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Underdeveloped nasal alae, Limit... OMIM:618419
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal no... ORPHA:1295
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Posterolateral diaphragmatic hernia, Sandal gap, Ingu... OMIM:613177
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Joint laxity, Depressed nasal bridge, Anteverted nares, Monkey wrench femoral ... OMIM:618870
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... OMIM:211350
Apert Syndrome
Cryptorchidism, Overriding aorta, Ventricular septal defect OMIM:101200
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absent nasal bridge, Short f... OMIM:612813
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Short nose, Spina bifida occulta, Genu valgum ORPHA:2983
Complete Atrioventricular Septal Defect
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atria... ORPHA:1329
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Depressed nasal bridge, Joint hypermobility, Underdevelop... OMIM:616007
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta ORPHA:1514
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Cryptorchidism, Abnormal lung lobation, Abnormal cardiac septum morphology, Umbilica... ORPHA:2166
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal s... OMIM:618188
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... ORPHA:249
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Anomalous pulmonary veno... ORPHA:99104
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis OMIM:610773
Al-Raqad Syndrome
Joint laxity, Short nose, Sandal gap, Brachydactyly OMIM:616459
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... ORPHA:3186
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hip dislocation, Wide nasal bridge, Joint contracture, Limb undergrowth, Recurrent lo... OMIM:618005
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ... ORPHA:86822
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Choanal atresia, Craniosynostosis, Micrognathia, Congenital diaphrag... ORPHA:2409
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... ORPHA:1860
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal br... OMIM:615583
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Omodysplasia 1
Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Increased fibular diame... OMIM:258315
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Inguinal hernia, Spontaneous neonatal pneumothorax, Micrognathia, Wide ... OMIM:225410
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa... OMIM:616835
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Neoplasm of the heart, Cryptorchidism, Umbilical hernia ORPHA:2241
Caudal Duplication
Omphalocele, Cryptorchidism ORPHA:1756
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en... ORPHA:1798
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent... ORPHA:141127
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str... ORPHA:93357
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, Arthrogrypos... ORPHA:369891
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodac... ORPHA:1327
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Decreased testicular size, Subcu... ORPHA:335
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Crypt... OMIM:210710
Holoprosencephaly
Omphalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Congenital... ORPHA:2162
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Depr... ORPHA:536467
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... ORPHA:2176
Smith-Kingsmore Syndrome
Depressed nasal bridge, Rhizomelia, Diastasis recti, Short proximal phalanx of finger, Wide anter... OMIM:616638
Raine Syndrome
Death in infancy, Bowing of the long bones, Increased bone mineral density, Depressed nasal bridg... OMIM:259775
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary air... ORPHA:436252
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal ... OMIM:249620
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Flexion... OMIM:619383
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration, Tracheobronchomalacia ORPHA:70589
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening... ORPHA:60025
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Short long... OMIM:224410
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion contracture, Crypt... OMIM:619503
Gm1 Gangliosidosis
Recurrent respiratory infections, Inguinal hernia, Depressed nasal bridge, Camptodactyly of finge... ORPHA:354
Breath-Holding Spells
Cyanosis OMIM:607578
Teebi Hypertelorism Syndrome 2
Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Clinodactyly of the ... OMIM:619736
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... OMIM:610915
Charge Syndrome
Omphalocele, Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial s... OMIM:214800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... OMIM:164900
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micrognathia, Cry... ORPHA:96097
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Hereditary Methemoglobinemia
Athetosis, Cyanosis ORPHA:621
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... OMIM:108900
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ... OMIM:610682
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax... OMIM:617866
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Recurrent pneumonia, Shor... ORPHA:500159
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodacty... ORPHA:251028
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... ORPHA:508533
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Anteverted nares, Down-sloping shoulders, Dorsocervical fat pad, Deviati... ORPHA:391408
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
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... OMIM:217980
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Micromelia, Limitation of joint mobility, Aplasia/Hypoplasia of the lungs... ORPHA:93274
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short nose, Postaxial hand polydactyly ORPHA:1389
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... ORPHA:3078
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd... ORPHA:1234
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... OMIM:231050
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Pl... OMIM:617822
3C Syndrome
Finger syndactyly, Recurrent respiratory infections, Death in infancy, Depressed nasal bridge, In... ORPHA:7
Oculodentodigital Dysplasia
Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nare... ORPHA:2710
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Preaxial hand polydactyly, Multiple lipomas, Foot polydactyly, Short nose ORPHA:210548
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... ORPHA:536471
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... ORPHA:3097
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Short distal phalanx of toe, Short nose, Bilateral triphalangeal ... OMIM:619356
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Intrauterine growth ... ORPHA:284417
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Short nose, Dysplasia of the femora... OMIM:616854
Tetrasomy 5P
Recurrent respiratory infections, Pericallosal lipoma, Anteverted nares, Overlapping toe, Short h... ORPHA:3309
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... ORPHA:3041
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Cryptor... ORPHA:2083
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hernia, Short nose ORPHA:1702
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... ORPHA:2756
Craniorachischisis
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia ORPHA:63260
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... ORPHA:90154
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal r... ORPHA:1318
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia ORPHA:2598
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Arthritis OMIM:620321
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Prog... OMIM:123700
20Q11.2 Microduplication Syndrome
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Sho... ORPHA:363659
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Prominent nose, Micrognathia, Generaliz... ORPHA:763
Marshall Syndrome
Radial bowing, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypoplastic ilia, Micrognath... OMIM:154780
Wrinkly Skin Syndrome
Inguinal hernia, Progeroid facial appearance, Cryptorchidism, Muscular ventricular septal defect,... OMIM:278250
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Cyanosis, Single ventricle OMIM:619879
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose, Joint hypermobility OMIM:300143
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Sandal gap, Congenital diaphragmatic hernia OMIM:300887
Boomerang Dysplasia
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... OMIM:112310
Non-Syndromic Posterior Hypospadias
Omphalocele, Cryptorchidism, Congenital diaphragmatic hernia ORPHA:95706
Pallister-Hall Syndrome
Abnormal lung lobation, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... OMIM:146510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Trisomy 20P
Finger syndactyly, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Micrognathia, Prea... ORPHA:261318
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Supernumerary ribs, Micrognathia ORPHA:163961
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Anteverted nares, Bo... OMIM:272460
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... OMIM:610655
Tarp Syndrome
Broad-based gait, Cyanosis, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Intrauter... ORPHA:2886
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Brachydactyly ORPHA:171866
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Unsteady gait, Coarctation of aorta, Hypoplastic left heart, Api... OMIM:301022
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor... ORPHA:2636
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Inguinal hernia, Cryptorchidism, Small hand, Short palm, Cl... ORPHA:1786
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Con... ORPHA:363528
Becker Nevus Syndrome
Lipoatrophy, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bifida ... ORPHA:64755
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morphology, Dimple on na... ORPHA:1784
Iniencephaly
Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Absent vertebra, Ta... ORPHA:63259
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bri... ORPHA:1519
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Hydrolethalus Syndrome 1
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lung lob... OMIM:236680
Autosomal Recessive Robinow Syndrome
Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Finger syndactyly, Broa... ORPHA:1507
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Tip-toe gait, Difficulty walki... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Tip-toe gait, Difficulty walki... ORPHA:98914
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Recurrent respiratory infections, Micrognathia, Contractures of the large joints, Sho... ORPHA:329178
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation OMIM:614100
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Generalized osteosclerosis,... OMIM:602398
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Keutel Syndrome
Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Depressed nasal b... OMIM:245150
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Short nose OMIM:615851
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Repeated pneumothoraces, Joint hypermobility, Long nose, Congenital d... OMIM:617602
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, I... OMIM:618162
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Osteoporosis, Lambd... OMIM:615398
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Cloacal Exstrophy
Omphalocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology,... ORPHA:93929
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bilateral cryptorchidism, Bulbous nose, 2-3 toe syndactyly, Clinod... ORPHA:485405
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... ORPHA:2879
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Coxa valga, Micrognathia, Hammertoe, Hip dysplasia, Distal arthrogryposis... OMIM:619833
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... OMIM:614091
Meckel Syndrome, Type 1
Omphalocele, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Coarctation of ao... OMIM:249000
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Deviation of ... ORPHA:1597
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ataxia, Petechiae OMIM:602473
Harel-Yoon Syndrome
Short nose, Hip dysplasia, Micrognathia OMIM:617183
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Abno... ORPHA:922
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Short nose, Anteverted nares, Brachydactyly ORPHA:2701
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... ORPHA:2306
Distal Deletion 10Q
Sandal gap, Prominent nasal bridge, Craniosynostosis, Prominent nose, Tapered finger, Micrognathi... ORPHA:96148
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:614749
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Overlapping toe, Underdev... OMIM:613026
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Hypercholanemia, Familial 1
Rickets OMIM:607748
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Choanal stenosis, Elbow ankylosis, Short metacarpal, Abnorma... ORPHA:95699
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Wide anterior fonta... OMIM:219200
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Micrognathia,... OMIM:620369
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Cryptorchidism, Humeroradial synos... OMIM:134780
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho... OMIM:618828
Dravet Syndrome
Bradykinesia, Progressive gait ataxia, Cyanotic episode ORPHA:33069
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Right ventricular dilatation... ORPHA:99106
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Recurrent lower respiratory trac... OMIM:617802
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, O... ORPHA:2671
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Short nose, Anteverted nares, Craniosynostosis OMIM:601853
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Epistaxis OMIM:211600
Meckel Syndrome, Type 8
Polydactyly, Short nose, Depressed nasal ridge, Talipes equinovarus OMIM:613885
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... OMIM:600001
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Micromelia, Abnormality of the nose, Meta... ORPHA:35107
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Hernia, Triphalangeal thumb, Short nose, Short distal phal... ORPHA:1912
Holoprosencephaly 7
Omphalocele, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal t... OMIM:610828
Aicardi-Goutieres Syndrome 1
Inability to walk, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosi... OMIM:225750
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, U... ORPHA:920
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Broad nasal tip, Ge... ORPHA:357074
Fraser Syndrome
Omphalocele, Finger syndactyly, Death in infancy, Cleft ala nasi, Depressed nasal bridge, Toe syn... ORPHA:2052
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Aplasia of the nasal bone, Joint stiffness, Micrognathia, Cryptorchidism... OMIM:618820
Congenital Varicella Syndrome
Atypical scarring of skin, Micromelia ORPHA:291
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Lethargy, Pulmonary edema ORPHA:137675
Smith-Magenis Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint stiffness, Wide nas... ORPHA:819
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Wide nasal bridge, Coxa vara, 2-3 toe syndactyly, Radioulnar synost... OMIM:614701
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nas... ORPHA:2637
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma OMIM:618913
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Short palm ORPHA:238750
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Down-slo... OMIM:227330
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Flexion contracture, Recurrent aspiration pneumonia ORPHA:79243
Bainbridge-Ropers Syndrome
Death in infancy, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominen... OMIM:615485
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose OMIM:614105
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Craniosynostosis, Micrognathia, Bulbous nose, Abnormal lung l... OMIM:614114
Dpm1-Cdg
Sandal gap, Depressed nasal bridge, Micrognathia, Knee flexion contracture, Camptodactyly, Limb u... ORPHA:79322
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, Chronic bronch... OMIM:242860
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis, Lethargy ORPHA:159
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Long nose, Slender long bone, Short nose, Joint hypermobility OMIM:618590
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Increased bone ... ORPHA:800
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Pterygium Colli, Isolated
Short nose OMIM:177990
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia, Bulbous nose, Wide nasal bridge... OMIM:617061
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... OMIM:618430
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Tapered finger, Flexion contracture, Limitati... ORPHA:2836
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... ORPHA:244
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tapered finger, Prominent ... ORPHA:435638
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Inguinal hernia, Craniosynostosis, Tapered finger, Cryptorchidism, Generalized... ORPHA:2953
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Omphalocele, Broad nasal tip OMIM:248450
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge ORPHA:1861
Arterial Tortuosity Syndrome
Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr... ORPHA:3342
Cardioacrofacial Dysplasia 1
Limb undergrowth, Overhanging nasal tip, Postaxial polydactyly, Genu valgum OMIM:619142
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Short nose, Micromelia, Adducted thumb ORPHA:50810
Radio-Renal Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormal rib morpholo... ORPHA:3015
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Overlappi... OMIM:213980
Meier-Gorlin Syndrome 1
Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short palm, C... OMIM:224690
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Calcif... ORPHA:3348
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... ORPHA:251071
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l... OMIM:269150
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Anteverted nares, Craniosynostosis, Choanal s... ORPHA:1790
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Micrognathia, Depressed nasal bridge, Anteverted nares, Tapered fing... OMIM:613458
Okamoto Syndrome
Omphalocele, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal brid... ORPHA:2729
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Perianal erythema, Cryptorchidism, Recurrent uppe... OMIM:308205
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna ORPHA:2491
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Diastasis recti, Cryptorchidism, Bulbous nose, Osteoporosis, Wide na... ORPHA:488632
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia OMIM:614407
Down Syndrome
Joint laxity, Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Clinodactyly of the 5th ... ORPHA:870
Fetal Alcohol Syndrome
Anteverted nares, Congenital diaphragmatic hernia, Joint stiffness, Micrognathia, Short nose ORPHA:1915
Tetrasomy 12P
Joint hyperflexibility, Short nose, Anteverted nares ORPHA:884
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr... OMIM:180700
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micromelia, Micrognathia, Congenital diaphragmatic hernia, Clinodact... OMIM:122470
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... ORPHA:666
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Br... ORPHA:97360
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Bulbous nose, Anteverted nares, Short nose OMIM:616420
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed ossification of carpal bon... OMIM:239300
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Cutaneo... OMIM:200110
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Recurrent bronchop... OMIM:604173
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Short nose, Clinoda... OMIM:614225
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Absent outer dynein arms, Anosmi... OMIM:244400
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Clinodactyl... OMIM:268305
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mi... ORPHA:99103
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Fibrous dyspl... ORPHA:562
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Weiss-Kruszka Syndrome
Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th finger, Short nose, Horizo... OMIM:618619
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... OMIM:260660
Microcephaly-Capillary Malformation Syndrome
Wide nose, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly OMIM:614261
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac... OMIM:164200
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis OMIM:619580
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Clinodactyly, Sho... OMIM:615866
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphol... ORPHA:2719
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Hip dysplasia, Micrognathia ORPHA:496790
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura ORPHA:343
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upper respiratory tract infe... ORPHA:333
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Aspiration pneumonia, Sh... OMIM:616430
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Trisomy 8P
Peripheral pulmonary artery stenosis, Short fourth metatarsal, Short fifth metatarsal, Depressed ... ORPHA:264450
Nicolaides-Baraitser Syndrome
Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger, Long toe, Short meta... OMIM:601358
Unilateral Polymicrogyria
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Short hallux, Tapered finger, Sandal gap, Craniosynosto... OMIM:608156
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex OMIM:230600
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Limb undergr... OMIM:616541
Kinsship Syndrome
Osteopenia, Death in infancy, Coxa valga, Micrognathia, Bulbous nose, Low hanging columella, Hip ... OMIM:619297
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Baraitser-Winter Syndrome 1
Anteverted nares, Cryptorchidism, Duplication of phalanx of hallux, Wide nasal bridge, Short nose OMIM:243310
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Fetal Trimethadione Syndrome
Short nose, Depressed nasal bridge, Micrognathia ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 1
Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Short foot, Hip dy... OMIM:156200
Chiari Malformation Type Ii
Cyanosis, Ataxia OMIM:207950
Pallister-Killian Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... OMIM:601803
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... ORPHA:221
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... ORPHA:3107
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Recurrent pneumonia, Polydactyly, Aspirat... ORPHA:314655
Aymé-Gripp Syndrome
Inguinal hernia, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Co... ORPHA:1272
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly, Short nose OMIM:618087
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... OMIM:270100
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Talipes equinovarus, Hand clenching, Short nose, Joint h... OMIM:617988
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Wide nasal bridge, ... ORPHA:1908
Trisomy 12P
Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Short nose ORPHA:1699
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Warburg Micro Syndrome 3
Micrognathia, Flexion contracture, Clinodactyly of the 5th finger, Short nose, Decreased testicul... OMIM:614222
Peho Syndrome
Short nose, Tapered finger OMIM:260565
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Osteoarthritis, Hypoplastic frontal sinus... ORPHA:560
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose ORPHA:284169
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge, Hip dislocation OMIM:608776
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Gait disturbance, Gait imbalance, Difficulty walking ORPHA:488627
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Pulmonary hypoplasia, Neonatal death, Art... OMIM:608013
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph... OMIM:219100
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M... ORPHA:3206
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin... ORPHA:2753
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Ataxia, Death in childhood, Recurrent lower respiratory tract infections OMIM:618426
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorch... ORPHA:1812
Fucosidosis
Lipoatrophy, Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... OMIM:612387
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Cryptorchidism,... OMIM:258040
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral crypt... OMIM:613457
Eisenmenger Syndrome
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... ORPHA:97214
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Kleefstra Syndrome
Recurrent respiratory infections, Anteverted nares, Cryptorchidism, Pulmonary artery stenosis, Li... ORPHA:261494
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Gait disturbance, Acrocyanosis ORPHA:1764
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Recurrent respiratory ... ORPHA:2308
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis OMIM:604571
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali... ORPHA:261112
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Broad hallux, Und... OMIM:618332
Mosaic Trisomy 9
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micromelia, Cryptorchidism, Bulbous no... ORPHA:99776
Chops Syndrome
Anteverted nares, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Trache... OMIM:616368
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ... ORPHA:2273
Poems Syndrome
Pericardial effusion, Pleural effusion, Acrocyanosis, Lipodystrophy ORPHA:2905
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Micrognathia, Wide nasal bridge, Tapered finger OMIM:620250
Micro Syndrome
Anteverted nares, Joint stiffness, Micrognathia, Cryptorchidism, Wide nasal bridge, Short nose ORPHA:2510
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Rickets ORPHA:2088
Coffin-Siris Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Clinodac... ORPHA:1465
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum... ORPHA:59315
Shprintzen Omphalocele Syndrome
Omphalocele, Short columella, Flared nostrils, Wide nasal bridge OMIM:182210
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Cryptorchidism, Humeroradi... ORPHA:3404
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Recurrent pneumonia, Concave nasal ridge, Short nose OMIM:170100
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Cryptorchidism, Cystocele, Abnormality of the abdominal wall, Abnor... ORPHA:322
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short... OMIM:615803
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Cryptorchidism... OMIM:130050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Geleophysic Dysplasia 2
Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short foot, Short palm, Sho... OMIM:614185
Jacobsen Syndrome
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing... OMIM:147791
Distal Deletion 9P
Short nose, Wide nasal bridge, Hernia, Brachydactyly ORPHA:1642
Eosinophilic Fasciitis
Fasciitis, Acrocyanosis, Cellulitis ORPHA:3165
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Inguinal hernia, Osteomalacia, Recurrent frac... ORPHA:534
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchidism, Talipes equino... ORPHA:261236
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Micrognathia ORPHA:1129
Toluene Embryopathy
Cryptorchidism, Short nose, Micrognathia, Tapered finger ORPHA:1920
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... OMIM:610536
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... ORPHA:1974
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrow... ORPHA:1855
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Short thumb, Cryptorchidism, Sm... OMIM:268400
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long ... OMIM:256520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Hydrocel... OMIM:614080
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Ataxia, Concentric hypertrophic cardiomyopathy, Lethargy, Hypertrophi... OMIM:252010
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Depressed nasal bridge, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesome... OMIM:616482
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Pulmonary edema ORPHA:31826
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Inguinal hernia OMIM:613735
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Macrocephaly/Autism Syndrome
Joint laxity, Short nose, Depressed nasal bridge, Hydrocele testis OMIM:605309
Schinzel-Giedion Syndrome
Inguinal hernia, Overlapping toe, Broad nasal tip, Micrognathia, Wide anterior fontanel, Recurren... ORPHA:798
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... OMIM:612651
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Inguinal hernia, Anteverted nares, Sandal gap, Craniosynostosis... ORPHA:363611
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Clinodactyly of the ... ORPHA:319675
Au-Kline Syndrome
Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal... OMIM:616580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Tapered finger, Coxa valga, Absent frontal sinuses, Cry... OMIM:301040
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Recurrent respiratory infections, Brachydactyly, Anteverted nares, Overlappi... ORPHA:177907
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Cardiomyopathy, Isch... ORPHA:48435
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cerebrofaciothoracic Dysplasia
Wide nose, Rib fusion, Hernia, Bifid ribs, Short nose ORPHA:1394
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Bifid ste... OMIM:303600
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Prominent umbilicus, Mitral valve calcification, Prominent superficial b... ORPHA:740
Malan Syndrome
Long fingers, Short nose, Coxa valga OMIM:614753
Cystinosis
Rickets ORPHA:213
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Cardiomegaly, Cryptorchidism, Cardiomyopathy OMIM:130650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Aplasia of the... ORPHA:476126
Aspartylglucosaminuria
Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, ... ORPHA:93
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia... ORPHA:287
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia... ORPHA:521426
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... OMIM:601353
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Cryptorchidism... OMIM:619005
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Cry... ORPHA:116
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose, Micrognathia ORPHA:79113
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Tapered finger, Wide nas... ORPHA:319182
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Short nose OMIM:618571
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis mo... ORPHA:96147
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phala... OMIM:200990
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Emphysema, Pulmonary fibrosis OMIM:620365
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Mi... OMIM:115150
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Wide na... OMIM:607330
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... ORPHA:468699
Celiac Disease, Susceptibility To, 1
Abnormality of the abdominal wall, Enamel hypoplasia, Osteoporosis, Rickets OMIM:212750
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Umbilical hernia,... OMIM:230740
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Craniosynostosis, ... OMIM:613610
Stickler Syndrome
Recurrent respiratory infections, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Protr... ORPHA:828
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm... OMIM:312870
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint laxity, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Crypto... OMIM:601776
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Monosomy 9Q22.3
Abnormal rib morphology, Joint hyperflexibility, Polydactyly, Umbilical hernia, Short nose ORPHA:77301
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Clinodactyly of the 5th finger, S... ORPHA:65286
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge, Recurrent pneumonia OMIM:619179
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... ORPHA:87
Adult-Onset Still Disease
Cartilage destruction, Recurrent pharyngitis, Pleuritis, Arthritis ORPHA:829
Ogden Syndrome
Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th finger, Microretrognathia, Depr... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Tapered finger, Micro... OMIM:309590
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Short nose ORPHA:357001
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,... OMIM:301044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Contractures of the large ... OMIM:617527
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Congenital diaphrag... OMIM:616546
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Syndactyly, Death in infancy, Depressed nasal bridge, Cranio... OMIM:612289
Zttk Syndrome
Unilateral lung agenesis, Depressed nasal bridge, Craniosynostosis, Flexion contracture, Small ha... OMIM:617140
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter... ORPHA:457279
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... ORPHA:364577
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Rickets, Abnormal pulmonary interstitial morphology, R... OMIM:613658
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Micrognathia, Joint hyperflexibility, Lipoma, Short nose, Broad thumb ORPHA:109
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Short nose, Brach... ORPHA:1358
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short sternum,... OMIM:257300
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Abnormal lung lobatio... ORPHA:818
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Micromelia, Abnormal lung lobation, Finger clinodactyly, Clinodactyly... ORPHA:508488
Aicardi-Goutières Syndrome
Multiple joint contractures, Cutis marmorata, Lipoatrophy, Cardiomegaly, Calcification of the aor... ORPHA:51
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Tapered finger, Wide nasal bridge, Hydrocele testis, Short columella, Talipes ... OMIM:613603
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Depressed nasal bridge, Scarring, Recurrent pneumonia, Depressed nasal ridge, Wi... ORPHA:99843
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Craniosynostosis, Pos... OMIM:605627
Trichothiodystrophy 1, Photosensitive
Death in infancy, Short nose, Flexion contracture, Absence of subcutaneous fat OMIM:601675
Trisomy 10P
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathi... ORPHA:171929
Waardenburg Syndrome Type 1
Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:614207
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Micrognathia, Overlapping fingers, Short nose, Adducted thumb OMIM:608779
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Wid... ORPHA:2751
Pallister-Hall Syndrome
Depressed nasal ridge, Abnormal lung lobation, Microretrognathia, Mesoaxial polydactyly, Radial b... ORPHA:672
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Short palm, Clinodactyly of the 5th... OMIM:613406
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Recurrent respiratory infections, Anteverted nares, Sandal gap, Broad hallux, Broad... OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Smal... ORPHA:280633
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the sense of... ORPHA:2189
Alkaptonuria
Joint stiffness, Abnormality of the nose, Cartilage destruction, Osteoarthritis, Reduced bone min... ORPHA:56
Degcags Syndrome
Osteopenia, Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Pneumonia, Prom... OMIM:619488
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Short nose, Micrognathia OMIM:266810
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose OMIM:613038
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Death in infancy, Underdeveloped nasal alae ORPHA:2315
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Short columella ORPHA:3164
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Gout, Death in childhood, Short nose, Convex nasal ridge OMIM:300661
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Dyschondrosteosis-Nephritis Syndrome
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia ORPHA:1765
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... ORPHA:522077
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Ellis Van Creveld Syndrome
Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Aplasia/Hypoplasia of the lungs,... ORPHA:289
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris OMIM:122880
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia OMIM:227810
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Congenital ... OMIM:614437
Moderate Hemophilia A
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage ORPHA:169805
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Osteomalacia, Chondrocalcinosis OMIM:600740
22Q11.2 Deletion Syndrome
Inguinal hernia, Arachnodactyly, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal ... ORPHA:567
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose OMIM:300749
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Wide nasal bridge,... ORPHA:1449
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Cryptorchidism, Hip dislocation, Rickets, Corneal scarring... OMIM:309000
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... ORPHA:51608
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose ORPHA:280200
Dend Syndrome
Clinodactyly of the 4th finger, Short nose, Anteverted nares ORPHA:79134
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Bone cyst, Osteolysis, M... ORPHA:2396
Adenylosuccinase Deficiency
Short nose, Anteverted nares OMIM:103050
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand polydactyly, Postaxi... ORPHA:46059
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal lun... OMIM:270400
Peters Plus Syndrome
Inguinal hernia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Micrognath... ORPHA:709
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus ad... OMIM:244450
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Micrognathia, Corneal scarring, Joint contracture, Clinodactyly, Short nose OMIM:618460
Cornelia De Lange Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal morphology of... ORPHA:199
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Cadds
Short nose, Micrognathia ORPHA:369942
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Cryptorchidism, Genu valgu... ORPHA:1340
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers, Flexion contracture, Wide nasa... ORPHA:284979
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Difficulty walking, Knee flexion contracture OMIM:617239
Wilson Disease
Osteomalacia, Osteoarthritis, Osteoporosis, Hyposmia, Chondrocalcinosis, Joint hypermobility OMIM:277900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly OMIM:614800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, As... ORPHA:444077
White-Kernohan Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia,... OMIM:619426
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly OMIM:600092
Wrinkly Skin Syndrome
Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo... ORPHA:2834
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorchidism, Left unila... OMIM:609942
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Joint stiffness, Flexion contracture, Hernia, Short nose ORPHA:505248
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, Abse... ORPHA:500150
Ayme-Gripp Syndrome
Depressed nasal bridge, Tapered finger, Wide nasal bridge, Radioulnar synostosis, Camptodactyly, ... OMIM:601088
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares OMIM:234050
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density ORPHA:18
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Joint hypermobility, Broad nasal tip ORPHA:293948
Zygomycosis
Fasciitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Nasal congestion, Acute infectious p... ORPHA:73263
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal brid... ORPHA:2282
Pitt-Hopkins Syndrome
Ataxia, Hiatus hernia, Cryptorchidism, Gait ataxia, Acrocyanosis ORPHA:2896
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Tapered finger, Bulbous nose, Short thum... OMIM:619522
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Sandal gap, Broad nasal tip, Long fingers, Recurrent pneumonia, Wide nasal bridge, ... OMIM:620330
Reactive Arthritis
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Enthesitis, Ar... ORPHA:29207
Toriello-Lacassie-Droste Syndrome
Short nose, Anteverted nares, Brachydactyly, Short palm ORPHA:3339
Deeah Syndrome
Death in infancy, Overlapping fingers, Cryptorchidism, Death in adolescence, Death in childhood, ... OMIM:619004
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal ala... ORPHA:268261
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Pulmonary artery stenosis, Short middle phalanx of finger, Clinodactyly o... OMIM:301030
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Flexion contracture, Increased connect... ORPHA:258
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Lujo Hemorrhagic Fever
Atelectasis, Rhinitis, Stiff neck ORPHA:319213
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Inguinal hernia, Wide anterior fontanel, Pneumothorax, Hip dislocation, Recurrent p... ORPHA:90349
Cystinosis, Nephropathic
Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary OMIM:219800
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short... OMIM:617157
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose OMIM:252160
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Pulmonary fibrosis, Increased susceptibility to fractures ORPHA:3337
Williams-Beuren Syndrome
Hallux valgus, Osteopenia, Joint laxity, Inguinal hernia, Depressed nasal bridge, Anteverted nare... OMIM:194050
Toriello-Carey Syndrome
Micrognathia, Wide anterior fontanel, Cryptorchidism, Clinodactyly, Short nose, Brachydactyly ORPHA:3338
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis ORPHA:365
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyanosis ORPHA:293987
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Flexion contracture, Genu valgum, Short nose, Decreased testicular size OMIM:619321
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Cellulitis, Pleural effusion OMIM:306400
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Micromelia, Prominent nasal tip ORPHA:1675
Relapsing Polychondritis
Chondritis of pinna, Atelectasis, Limitation of joint mobility, Arthritis, Chondritis ORPHA:728
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Shagreen patch, Chylothorax, Emphyse... ORPHA:538
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Venous insufficiency, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdom... ORPHA:285
Primary Hyperoxaluria
Cardiomyopathy, Acrocyanosis, Cutis marmorata ORPHA:416
Chand Syndrome
Atelectasis, Short fifth metatarsal, Depressed nasal bridge ORPHA:1401
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Anteverted nares, Bulbous nose, Wide nasal bridge, Depressed nasal t... OMIM:619475
Myasthenia Gravis
Acrocyanosis ORPHA:589
Sarcoidosis, Susceptibility To, 1
Bone cyst, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion... OMIM:181000
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Familial Hypocalciuric Hypercalcemia
Lipoma, Osteomalacia, Chondrocalcinosis ORPHA:405
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis OMIM:259900
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Pneumonia, Osteomalacia, Bronchitis, Bronchiectasis, Arthritis OMIM:619381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Penile Agenesis
Depressed nasal bridge, Cloacal abnormality, Cryptorchidism, Bilateral lung agenesis, Bilateral t... ORPHA:49
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Shor... OMIM:229400
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Micrognathia, Atelectasis, Recurrent pneumonia, Hydrocele testis... OMIM:188400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trip11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trip11.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Abnormal fertility, acrosome formation, IFT20 expression and localization in conditional Gmap210 knockout mice. American journal of physiology. Cell physiology (October 2019) Trip11tm1a(EUCOMM)Hmgu 31577511

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MGI Allele Allele Type Produced
Trip11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Trip11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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