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:
3110031G15Rik,  2610511G22Rik,  6030460N08Rik,  TRIP230,  GMAP-210

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Trip11 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Omphalocele, Aplasia/Hypoplasia of the radius, Aplasia/hypoplasia of the humer... ORPHA:2141
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of the ribs, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bone... ORPHA:93267
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Amelia, Syndactyly, Pulmonary hypoplasia, Decreased skull ossificati... OMIM:601163
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Broad nas... OMIM:601927
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Omphalocele, Torticollis, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Depressed nasal bri... OMIM:228520
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Short nose, Anteverted nares, Camptodactyly, Mesomelia, Omphalocele, Wide nasal brid... OMIM:618529
Achondrogenesis Type 1A
Short nose, Abnormal enchondral ossification, Femoral hernia, Recurrent fractures, Umbilical hern... ORPHA:93299
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Achondrogenesis Type 1B
Short nose, Abnormal enchondral ossification, Femoral hernia, Umbilical hernia, Aplasia/Hypoplasi... ORPHA:93298
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Omphalocele, Sandal gap, A... OMIM:215140
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Coarctation of aorta, Umbilical hernia, Dextrocardia, I... OMIM:616145
Achondrogenesis
Short nose, Abnormal enchondral ossification, Umbilical hernia, Inguinal hernia, Aplasia/Hypoplas... ORPHA:932
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Miller-Dieker Syndrome
Omphalocele, Clinodactyly of the 5th finger, Anteverted nares, Short nose ORPHA:531
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Short nose, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of... OMIM:300863
Gillessen-Kaesbach-Nishimura Syndrome
Convex nasal ridge, Wide anterior fontanel, Underdeveloped nasal alae, Flexion contracture, Ompha... OMIM:263210
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower limbs, Micr... OMIM:236640
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Reduced bone mineral density, Abn... ORPHA:2370
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Short nose, Anteverted nares, Limb undergrowth, Short ribs, Coarse metaphyse... OMIM:618961
Pseudodiastrophic Dysplasia
Talipes equinovarus, Phalangeal dislocation, Omphalocele, Rhizomelia ORPHA:85174
Melnick-Needles Syndrome
Abnormality of the ribs, Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bo... ORPHA:2484
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Short nose, Stillbirth, Hypoplastic sc... OMIM:200600
Metatropic Dysplasia
Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abnormal enchon... ORPHA:2635
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Omphalocele, Short distal phalanx of finger, Sandal gap... OMIM:311300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Horizontal ribs, Postaxial polydactyly, Short ribs, O... OMIM:617895
Fetal Valproate Spectrum Disorder
Omphalocele, Short nose, Depressed nasal ridge ORPHA:1906
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Cor pulmonale, Desq... OMIM:263000
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Recurrent respiratory infections, Small hand, Delayed epiphyse... OMIM:618618
Teebi Hypertelorism Syndrome
Craniosynostosis, Short nose, Omphalocele, Wide nasal bridge, Small hand, Depressed nasal bridge OMIM:145420
C Syndrome
Dislocated radial head, Fused sternal ossification centers, Postaxial hand polydactyly, Toe synda... OMIM:211750
Acromicric Dysplasia
Abnormality of femur morphology, Bulbous nose, Anteverted nares, Abnormality of epiphysis morphol... ORPHA:969
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Wide anterior fontanel, Anteverted nares, Broad... ORPHA:2021
Mental Retardation, X-Linked 91
Short nose, Clinodactyly, Small hand, Short foot, Short 5th finger OMIM:300577
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Mesomelia, Abnormal shoulder morphology, Micrognathia, Brachydactyly, Hernia ... ORPHA:1277
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Meta... OMIM:250460
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Isolated Trigonocephaly
Omphalocele, Wide nasal bridge ORPHA:3366
Kagami-Ogata Syndrome
Diastasis recti, Flexion contracture, Omphalocele, Limb undergrowth, Laryngomalacia, Thin ribs, I... OMIM:608149
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Distal Trisomy 15Q
Camptodactyly of finger, Omphalocele, Joint stiffness, Micrognathia, Prominent nasal bridge, Arac... ORPHA:1707
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Bulbous nose, 2-3 toe syndactyl... OMIM:616809
Odontochondrodysplasia
Short nose, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, Cone-shaped epi... ORPHA:166272
Rhiny
Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Premature skin wrinkling, Abnormal heart valve morphology, Emphysema... ORPHA:90348
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Short nose, Rhizomelia, Abnormality of the radius, M... ORPHA:93329
Sandestig-Stefanova Syndrome
Camptodactyly, Wide nasal bridge, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Abnormality of the ribs, Upper limb undergrowth, Short metatarsal, Hyp... ORPHA:93351
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Short nose, Flexion contracture, Inguinal hernia, Narrow nasal bridge OMIM:618379
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Anteverted ... ORPHA:217340
Cholesterol Pneumonia
Cyanosis, Death in infancy, Pneumonia OMIM:215030
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Acalvaria
Omphalocele, Abnormal lung lobation ORPHA:945
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Hypoplastic pubic bon... OMIM:151210
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Omphalocele, Umbilical hernia, Congenital diaphragmatic he... ORPHA:2143
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Wide anterior fontanel, Umbilical hernia, Depressed nasal bridge OMIM:275100
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Omphaloc... OMIM:304120
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta, Intrauterine growt... ORPHA:1110
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Abnormality of the abdominal wall, Joint laxity, Metaphyseal irregularity, ... OMIM:602557
Monosomy 5P
Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Wide nasal bri... ORPHA:281
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Coarctation ... OMIM:601612
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Short foot, Wide nasal bridge, Short metacarpal, Micrognathia... OMIM:614078
Kyphomelic Dysplasia
Anterior rib cupping, Bowing of the long bones, Large hands, Flat acetabular roof, Joint stiffnes... ORPHA:1801
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Short ribs, Umbilical hernia, Absent or minimally ossified vertebra... OMIM:600972
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Myocardial fibrosis, Interl... ORPHA:2302
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Anterior rib punctate calcifications, Abnormal pelvis bon... ORPHA:1426
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Finger clinodactyly, Inguinal hernia, Bilateral talipes equinovarus, Supernumerary ... ORPHA:2958
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal ... ORPHA:2631
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Flared iliac wing, Hypoplastic frontal sinuses, Omphalocele, Abnormality of th... ORPHA:90652
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabula... OMIM:184260
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Aplasia/Hypoplas... ORPHA:2145
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Radial deviation of finger, Clinodactyly, Inguinal hernia, 11 pairs of ribs, Talipe... OMIM:309610
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Short nose, Choanal stenosis, Bullet-shaped middle phalanges of t... OMIM:602535
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Underdeveloped nasal alae, Sh... OMIM:180870
Trigonocephaly 1
Craniosynostosis, Omphalocele OMIM:190440
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Joint laxity, Overlapping toe, Camptodactyly, Fle... ORPHA:254528
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Bulbous nose, Short nose, Camptodactyly, Short toe, Hip dislocation, Tap... OMIM:613458
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus adductus, ... OMIM:201000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Omphalocele
Omphalocele ORPHA:660
Short Stature-Obesity Syndrome
Limb undergrowth, Narrow nose, Clinodactyly of the 5th finger, Prominent nasal bridge, Micrognath... OMIM:269870
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epiphyses of the elbow, Frag... ORPHA:166002
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Perimem... ORPHA:363444
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Hiatus hernia, Rickets, Joint hyperflexibility, Scarring, Femoral he... ORPHA:1901
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Depressed nasal ridge, Bowing of the long bones, Cone-shaped epi... ORPHA:1240
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, ... ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:600081
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... OMIM:300244
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose ORPHA:2015
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Delayed epiphyseal ... OMIM:601561
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... OMIM:615297
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Short distal phalanx of finger, Short nasal septum, De... OMIM:302950
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia, Depressed nasal bridge ORPHA:1918
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ... OMIM:251450
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Enlarged naris, Micrognathia, Camptodactyly, Short columella, Congenital contracture, Umbilical h... OMIM:616266
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Death in infancy, Short ribs, Pulmonary hypoplasia, Depre... OMIM:241800
Acrocephalopolydactyly
Short nose, Limb undergrowth, Short long bone, Depressed nasal ridge, Brachydactyly ORPHA:221054
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Short nose, Micrognathia, Pleural effusion, Beaded ribs, Flexion contracture, Limb u... OMIM:616897
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Absent bronchoalveolar dimer... OMIM:265120
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Abnormalit... ORPHA:296
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses of the phal... OMIM:250215
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Attention deficit... OMIM:619227
Mosaic Trisomy 1
Omphalocele, Long toe, Congenital diaphragmatic hernia, Complete duplication of thumb phalanx, El... ORPHA:1692
Thoracomelic Dysplasia
Genu valgum, Joint hyperflexibility, Short ribs, Limb undergrowth, Abnormality of the metaphysis,... ORPHA:1803
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Short nose, Rhizomelia, Irregular iliac crest, Abnorma... ORPHA:168549
Atelosteogenesis, Type I
Short metatarsal, Multinucleated giant chondrocytes in epiphyseal cartilage, Micrognathia, Depres... OMIM:108720
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Anteverted nares, Sh... ORPHA:950
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Short nose, Preaxial foot polydactyly, Rib fus... ORPHA:1988
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Wid... ORPHA:163649
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
17P13.3 Microduplication Syndrome
Short nose, Congenital hip dislocation, Inguinal hernia, Clinodactyly of the 5th finger, Wide nose ORPHA:217385
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Interlobular septal thickening, Bronchiectas... ORPHA:79126
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Abnormality of epiphysis morphology, Hypoplastic pu... ORPHA:2746
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Anteverted nares, Recurrent upper respiratory tract infections, Short... OMIM:300209
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Hypoplastic pelvis, Microretrognathia, Rhizomelia, Pr... OMIM:616300
Glutamine Deficiency, Congenital
Short nose, Micromelia, Flexion contracture, Camptodactyly, Wide nasal bridge, Neonatal death, An... OMIM:610015
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Bifid distal phalanx of toe, Limited elbow extension, Convex nasal ridge, Diastasi... OMIM:618419
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Flexion contracture, Omphalocele, Limb undergrowth, Wide nasal bridge, Neonata... OMIM:619124
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Joint hyperflexibility, Micrognathia, Depressed nasal bridge ORPHA:1695
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphragm... OMIM:313850
Kniest Dysplasia
Hypoplastic pelvis, Flattened, squared-off epiphyses of tubular bones, Dumbbell-shaped long bone,... OMIM:156550
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Short nose, Short columella, Bowing of t... ORPHA:171839
Omphalocele, X-Linked
Omphalocele OMIM:310980
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Death i... ORPHA:163966
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Short 5th metacarpal, Aplasia/Hypoplasia of ... ORPHA:1350
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Depressed nasal ridge, Abnormality of epiphysis morphology, Joint hype... ORPHA:1842
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical hernia ORPHA:254534
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Depressed na... OMIM:601016
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Omphalocele, Pu... ORPHA:1335
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Rhizomelia, Short humerus... ORPHA:2831
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Microretrognathia, Omphalocel... ORPHA:261344
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Omphalocele, Abnormal ha... ORPHA:371428
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Hypoxemia, Dextrocardia, Pul... ORPHA:2257
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Split hand, Omphalocele, Aplasia/Hypoplasia of the lungs, Shor... ORPHA:2092
Jeune Syndrome
Abnormality of the ribs, Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Posta... ORPHA:474
Acromesomelic Dysplasia, Maroteaux Type
Joint hyperflexibility, Bowing of the long bones, Joint stiffness, Acromesomelia, Brachydactyly, ... ORPHA:40
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Hip dislocation, Arachnodactyly,... ORPHA:171719
Donnai-Barrow Syndrome
Short nose, Broad nasal tip, Ventricular septal defect, Omphalocele, Umbilical hernia, Congenital... OMIM:222448
Fibrochondrogenesis 2
Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Hypoplasti... OMIM:614524
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose, Short distal phalanx of finger OMIM:155050
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Short nose, Anteverted nares, Umbilical hernia, Wide nasal bridge, Ing... ORPHA:363705
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Deviation of finger ORPHA:1450
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Anteverted n... ORPHA:1427
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Micromelia ORPHA:63862
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Broad toe, Delayed ossification of c... OMIM:609616
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia OMIM:122900
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:241530
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Choanal atresia, Omphalocele, Patent ductus arte... OMIM:158170
Arthrochalasia Ehlers-Danlos Syndrome
Hip dysplasia, Joint hyperflexibility, Scarring, Avascular necrosis of the capital femoral epiphy... ORPHA:1899
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Limb undergrowth, Spina bi... ORPHA:177
Codas Syndrome
Enamel hypoplasia, Genu valgum, Squared iliac bones, Short phalanx of finger, Congenital hip disl... OMIM:600373
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Abnormal cartilage morpho... ORPHA:93284
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, Metaphyseal irregularity, Sp... OMIM:264700
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Horizontal ribs, Abn... ORPHA:1505
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Micrognathia, El... OMIM:601559
Mesomelia-Synostoses Syndrome
Genu valgum, Convex nasal ridge, Abnormality of tibia morphology, Abnormality of femur morphology... ORPHA:2496
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Convex nasal ridge, Joint hyperflexibility, Umbilical hernia, Sandal gap, Arachnodac... ORPHA:1035
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Death in infancy, Recurrent pneumonia, Micrognathia ORPHA:1495
Hypochondroplasia
Abnormality of femur morphology, Joint hyperflexibility, Bowing of the long bones, Genu varum, Sh... ORPHA:429
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Lethargy, Ataxia, Dystonia ORPHA:71277
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Postaxial hand polydactyly, Short nose, Omphalocele, Pulmonary hypoplasia, Extr... OMIM:200995
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Prune belly, Omphalocele, Cervical ribs, Talipes equinovarus OMIM:601389
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Short nose, Anteverted nares, Mesomelia, Umbilical hernia, Short distal phalanx of f... OMIM:616331
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Dilated Cardiomyopathy With Ataxia
Dystonia, Dilated cardiomyopathy, Ataxia, Muscular ventricular septal defect, Intrauterine growth... ORPHA:66634
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Broad-based gait OMIM:614450
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Aplasia/Hypoplasia of the lungs, Missing ribs, Congenital diaphragmatic hernia, Abno... ORPHA:1834
Gastrointestinal Defects And Immunodeficiency Syndrome
Intrauterine growth retardation, Omphalocele, Enamel hypoplasia, Ventricular septal defect OMIM:243150
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow ankylosis, Hypoplasia of the ulna, Wid... ORPHA:2557
Ruvalcaba Syndrome
Convex nasal ridge, Abnormality of vertebral epiphysis morphology, Short nose, Synostosis of carp... ORPHA:3121
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Vacterl/Vater Association
Omphalocele, Laryngomalacia, Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Tr... ORPHA:887
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification, Flared il... OMIM:271665
Blomstrand Lethal Chondrodysplasia
Short nose, Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Bowing of the ... ORPHA:50945
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, 2-3 toe syndactyly, Brachydactyly, Clinodactyly, Micrognathia, Tapered finger OMIM:617061
Short-Rib Thoracic Dysplasia 12
Short toe, Hypoplastic scapulae, Short finger, Horizontal ribs, Omphalocele, Limb undergrowth, Sh... OMIM:269860
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Hemoptysis, Hypoxemia, Cyanosis... OMIM:610910
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Joint hemorrhage, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Al-Raqad Syndrome
Short nose, Brachydactyly, Joint laxity, Sandal gap OMIM:616459
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Short nose, Overlapping toe, Short metacarpal, Depressed nasal bridge, Small ep... OMIM:616723
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Tracheomalacia, Atelectasis, Narrow ... ORPHA:896
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Metatarsus adductus, Inte... ORPHA:96334
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Short nose, Metaphyseal cupping, Short ribs, Hypoplastic ischia, Iliac crest... OMIM:613320
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Omphalocele, Alveolar capillary dy... OMIM:265380
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Joint laxity, Short phalanx of finger, Wide anterior fontanel, Limb undergrowth, Umbilical hernia... OMIM:225410
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Ground-glass opacification, Type II pneumocyte hyperplasia, Intraalveol... OMIM:610913
Codas Syndrome
Abnormal dental enamel morphology, Congenital hip dislocation, Anteverted nares, Abnormality of e... ORPHA:1458
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Coxoauricular Syndrome
Reduced bone mineral density, Abnormality of femur morphology, Hip dislocation, Abnormality of pe... ORPHA:1508
Rudiger Syndrome
Flexion contracture, Death in infancy, Inguinal hernia, Short digit, Depressed nasal bridge OMIM:268650
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Abnormality of epiphys... ORPHA:93352
Cenani-Lenz Syndrome
Oligodactyly, Convex nasal ridge, Hypoplasia of the radius, Abnormal dental enamel morphology, To... ORPHA:3258
Kagami-Ogata Syndrome
Diastasis recti, Omphalocele, Laryngomalacia, Coat hanger sign of ribs, Inguinal hernia, Coxa val... ORPHA:254519
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Increased size of nasopharyngea... ORPHA:457395
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Wide anterior fontanel, Anteverted nar... ORPHA:15
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, Metaphyseal irregularity, Sp... OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, M... OMIM:184250
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hy... ORPHA:1529
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Short nose, Toe clinodactyly, Micrognathia, Depressed nasal bridge ORPHA:261120
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Increased susceptibility to fracture... OMIM:166250
Esophageal Atresia
Abnormal respiratory system morphology, Laryngotracheomalacia, Ventricular septal defect, Choanal... ORPHA:1199
Chung-Jansen Syndrome
Joint hypermobility, Short nose, Anteverted nares, Clinodactyly, Micrognathia, Tapered finger OMIM:617991
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Broad ribs, Micrognathia, Camptodactyly, Flexion contracture of toe, Craniofacia... OMIM:300373
Opsismodysplasia
Anterior rib cupping, Squared iliac bones, Short nose, Rhizomelia, Metaphyseal cupping, Hypoplast... OMIM:258480
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:300554
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Anteverted nare... OMIM:236500
Miller-Dieker Lissencephaly Syndrome
Short nose, Polydactyly, Micrognathia, Camptodactyly, Omphalocele, Wide nasal bridge, Inguinal he... OMIM:247200
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Anteverted nares, Short nose, Camptodactyly, Mesomelia, Omp... OMIM:616894
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Joint laxity, Short nose, Wide nasal bridge, Limited elbow extension and ... ORPHA:401935
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Depressed nasal ridge, Micrognathia, Anteverted nares ORPHA:1832
Hypophosphatasia, Infantile
Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Death in inf... OMIM:241500
Apert Syndrome
Anomalous tracheal cartilage, Ventricular septal defect, Choanal atresia, Overriding aorta, Depre... OMIM:101200
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Os... ORPHA:93160
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Death in infancy, Omphalocele, Pulmonary arte... ORPHA:991
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Emphysema, Bowing of the long bones, Recurrent fractur... ORPHA:436
Melnick-Needles Syndrome
Genu valgum, Limited elbow extension, Talipes equinovarus, Stillbirth, Hypoplastic scapulae, Recu... OMIM:309350
Baker-Gordon Syndrome
Short nose, Joint laxity, Prominent nasal tip OMIM:618218
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Wide nasal bridge OMIM:616430
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Omphalocele, Wide nasal bridge, Abno... ORPHA:2059
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Short nose, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93258
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Metaphyseal irregularity, Recurrent fractures, Coxa vara, Hypoplasia of the odontoid... ORPHA:93315
Diaphanospondylodysostosis
Short nose, Tracheomalacia, Hammertoe, Absent in utero rib ossification, Absent in utero ossifica... OMIM:608022
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Hall-Riggs Syndrome
Abnormal dental enamel morphology, Anteverted nares, Abnormality of epiphysis morphology, Limb un... ORPHA:2107
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Limb undergrowth ORPHA:156728
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Upper limb undergrowth, Short metatarsal, Short phalanx of fin... ORPHA:439822
Constricting Bands, Congenital
Omphalocele, Gastroschisis, Ectopia cordis, Bladder exstrophy, Abnormal lung lobation OMIM:217100
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous syndactyly between fingers 2 ... OMIM:601224
Kennerknecht Syndrome
Convex nasal ridge, Toe syndactyly, Omphalocele, Acetabular dysplasia, Toe clinodactyly OMIM:600908
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Choanal stenosis, Finger syndactyly, Elbow anky... OMIM:101600
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pleura morphology, Nasal polyposis, Gait disturbanc... ORPHA:183
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Anteverted nares, Rhizomelia, Choanal atresia, Ingu... ORPHA:2645
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Short nose, Wide nasal bridge ORPHA:1200
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Anteverted nares, Synost... ORPHA:321
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema, Hypoxemia, Cyanosis ORPHA:70587
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypoplastic pubic b... ORPHA:1865
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Short nose, Anteverted nares, Choanal atresia, Short distal phalanx of fing... ORPHA:1914
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Broad hallux phalanx, Hypoplasia of the ulna, Mesomelia, M... ORPHA:2249
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Wide nasal bridge OMIM:618569
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Short nose, Anteverted nares, Recurrent fractures, Elb... ORPHA:83
Maxillonasal Dysplasia
Short nose, Short columella, Abnormality of the nares, Short distal phalanx of finger, Aplasia/Hy... ORPHA:1248
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Distal Trisomy 18Q
Camptodactyly of finger, Short nose, Choanal atresia, Large hands, Clinodactyly of the 5th finger... ORPHA:1716
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Slender finger, Joint stiffness, Ulnar deviation of finger, Microgna... ORPHA:1895
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Short nose, Foot ... OMIM:206920
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Intraalveolar phospholipid accumulation, Crazy paving pattern, Abnormality of the upp... ORPHA:747
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose, Camptodactyly, Clinodactyly, Micrognathia, Brachydactyly OMIM:613604
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
Microcephaly-Micromelia Syndrome
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth,... OMIM:251230
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormal cartilage matrix, Wide anterior fontanel, Abnormality of the ischi... ORPHA:2347
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Tetralogy of Fallot, Omphalocele, Overriding aorta ORPHA:3186
Opitz Gbbb Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:2745
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Unilambdoid synostosis, Wide nasal bridge, Clinodactyly, Micrognathia, Anteverted nares OMIM:618577
Triploidy
Micrognathia, Omphalocele, Decreased skull ossification, Finger syndactyly ORPHA:3376
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased sus... OMIM:146300
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Subperiosteal bone resorption, Rickets, Tibial bowing, Rachitic rosary, Osteom... ORPHA:289157
Marshall-Smith Syndrome
Craniosynostosis, Short nose, Joint hyperflexibility, Bowing of the long bones, Choanal atresia, ... ORPHA:561
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal lung lobation, Abnormal lung morphology, Anomalous o... ORPHA:141127
Perlman Syndrome
Short nose, Wide nasal bridge, Inguinal hernia, Femoral hernia, Micrognathia, Anteverted nares ORPHA:2849
Hypertrichosis Cubiti
Joint hyperflexibility, Micromelia, Prominent nasal bridge, Rhizomelia ORPHA:2220
Pierpont Syndrome
Broad nasal tip, Short nose, Short finger, Short foot, Short toe, Prominent fingertip pads, Short... OMIM:602342
Simpson-Golabi-Behmel Syndrome
Broad thumb, Congenital hip dislocation, Death in infancy, Omphalocele, Congenital diaphragmatic ... ORPHA:373
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Underdeveloped nasal alae, Camptodactyly, Wrist fle... OMIM:193700
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Short nose, Abnormality of epiphysis morphology, J... ORPHA:90653
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Short Stature, Brussels Type
Microretrognathia, Calcification of cartilage, Delayed epiphyseal ossification ORPHA:2867
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Short nose, 2-3 toe syndactyly, Flexion contracture, Wide nasal brid... OMIM:218000
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Convex nasal ridge, Radioulnar synostosis, Meso... OMIM:617604
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Short nose, Anteverted nares, Hypoplastic pelvis, Rhizomelia, Death in ... OMIM:602613
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Symphalangism affecting the phalanges of the hand, Micrognat... ORPHA:2547
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Joint hyperflexibility, Slender long bone, Reduced bone mineral density, Spina bifida... ORPHA:1185
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia, Death in infancy, Congenital contracture OMIM:615042
Chromosome 6Q11-Q14 Deletion Syndrome
Inguinal hernia, Short nose, Umbilical hernia, Broad nasal tip OMIM:613544
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Bartsocas-Papas Syndrome 1
Oligodactyly, Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal a... OMIM:263650
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Rhizomelia, Beaded ribs, Mesomelia, Osteopenia OMIM:616229
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Apla... ORPHA:3429
Clark-Baraitser Syndrome
Clinodactyly, Depressed nasal bridge, Short nose, Sandal gap OMIM:617752
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Short distal phalanx o... ORPHA:79345
Verheij Syndrome
Short nose, Wide nasal bridge, Vertebral fusion, Clinodactyly, Hip dislocation, Short 5th finger OMIM:615583
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Short nose, Microretrognathia, Narrow pelvis... ORPHA:3380
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele, Bilateral trilobed lungs OMIM:613630
Kniest Dysplasia
Dumbbell-shaped femur, Flexion contracture of finger, Laryngotracheomalacia, Enlarged epiphyses, ... ORPHA:485
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bones, Metaphyseal cupping, Micromel... ORPHA:85166
Acrocapitofemoral Dysplasia
Flared iliac wing, Short palm, Cone-shaped epiphysis, Coxa vara, Genu varum, Abnormal femoral nec... ORPHA:63446
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Pulmonary edema, Cyanosis, Cardiomyopathy OMIM:261740
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Short nose, Flexion contracture, ... ORPHA:544503
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Dystonia, Atrial septal defect, Pulmonary fibrosis, Parenchymal conso... OMIM:610978
3Mc Syndrome 1
Wide anterior fontanel, Radioulnar synostosis, Lambdoidal craniosynostosis, Single interphalangea... OMIM:257920
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Short palm, Depressed ... ORPHA:93328
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Overriding aort... OMIM:309801
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Abnormality of the... ORPHA:2772
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Spina bifida occulta, Micrognathia, Narrow nasal bridge ORPHA:1514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Short nose, Depressed nasal bridge OMIM:616910
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Hypoxemia, Hemoptysis, Cyanosis, Pneumothorax ORPHA:1302
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Limited elbow extension, Bulbous nose, Metaphyseal irregularity, Laryngotracheomalac... OMIM:271510
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Anteverted nares, Short nose, Cone-shaped epiphysis, S... OMIM:614613
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Laryngotrache... ORPHA:1190
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Rachitic rosary, Reduced bone mineral density, Osteomalacia, Bowing of ... ORPHA:157215
Williams Syndrome
Prematurely aged appearance, Abnormal dental enamel morphology, Abnormal carotid artery morpholog... ORPHA:904
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Abnormal heart morphology ORPHA:1867
Cartilage-Hair Hypoplasia
Abnormality of the metaphysis, Abnormality of the ribs, Depressed nasal bridge, Depressed nasal r... ORPHA:175
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Joint hyperflexibility, Micromelia, Pulmonary hypoplasi... ORPHA:2655
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
3M Syndrome
Rocker bottom foot, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, ... ORPHA:2616
Jaberi-Elahi Syndrome
Joint hypermobility, Short nose, Joint stiffness, Hand clenching, Talipes equinovarus, Depressed ... OMIM:617988
Aarskog-Scott Syndrome
Joint laxity, Anteverted nares, Short nose, Hypoplasia of the odontoid process, Lozenge-shaped um... OMIM:305400
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia ORPHA:85173
Focal Dermal Hypoplasia
Enamel hypoplasia, Short metatarsal, Short phalanx of finger, Congenital hip dislocation, Joint l... OMIM:305600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Recurrent fractures, Limb undergrowth, Tibial bowing, Congenital bilateral hi... ORPHA:453510
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Broad nasal tip, Arachnodactyly, Prominent nasal bridge OMIM:615485
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Micromelia ORPHA:93316
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Camptodactyly, Inguinal hernia, Talipes equinovarus, Adducted thumb, Arachnodactyly OMIM:615539
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Dystonia, Truncal ataxia, Joint contracture of the 5th finger, Prominent nose OMIM:614407
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:300009
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Cutis Laxa, Autosomal Dominant 1
Emphysema, Prematurely aged appearance, Progeroid facial appearance, Inguinal hernia OMIM:123700
Fibrous Dysplasia Of Bone
Abnormality of the sphenoid sinus, Abnormality of the ribs, Abnormality of tibia morphology, Abno... ORPHA:249
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Short nose, Anosmia, Abnormality of the nares, Short distal phalanx of finger, Abnor... ORPHA:1295
Fryns Syndrome
Rocker bottom foot, Broad ribs, Stillbirth, Microretrognathia, Aplasia of the left hemidiaphragm,... OMIM:229850
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Epiphyseal stippling, Short distal... ORPHA:86822
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Reduced bone mineral density, Short nose, Spina bifida occulta ORPHA:2983
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Bacterial endocarditis, Hemothorax, Hypox... ORPHA:2038
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Absent nasal bridge, Rhizomelia, Short finger, Irregular epiphyses, Me... OMIM:612813
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Acromesomelia, Joint stiffness, Short thumb, S... ORPHA:968
C Syndrome
Dislocated radial head, Hand polydactyly, Toe syndactyly, Short nose, Micrognathia, Death in infa... ORPHA:1308
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Short nose, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93259
Sponastrime Dysplasia
Hip subluxation, Joint laxity, Metaphyseal irregularity, Hypoplasia of the nasal bone, Aplasia of... ORPHA:93357
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Micrognathia, Depresse... OMIM:268310
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Toe syndactyly, Short nose, Anteverted nares, Short distal phalanx of fi... ORPHA:1327
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Ataxia, Coarctation o... ORPHA:261183
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Mental Retardation, Autosomal Dominant 20
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Pyknoachondrogenesis
Aplastic pubic bones, Short iliac bones, Poorly ossified vertebrae, Craniofacial hyperostosis, Ho... ORPHA:3003
Osteogenesis Imperfecta, Type X
Genu valgum, Joint laxity, Broad ribs, Generalized joint laxity, Bowing of the long bones, Dentin... OMIM:613848
Isolated Anencephaly
Intrauterine growth retardation, Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Postaxial hand polydactyly, Preaxial hand polydactyly, Bifid epiglottis, Omphalocele, Short ribs,... ORPHA:93271
Geleophysic Dysplasia 1
Camptodactyly of finger, Short nose, Anteverted nares, Short long bone, Tracheal stenosis, Wrist ... OMIM:231050
Apnea, Central Sleep
Cyanosis OMIM:207720
Occipital Horn Syndrome
Large iliac wing, Abnormality of fibula morphology, Aplastic clavicle, Hip dysplasia, Genu valgum... ORPHA:198
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Depressed nasal bridge, Knee flexion contracture, Intrauterine growth retardati... ORPHA:284417
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Holoprosencephaly
Dystonia, Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Omphalocele, Ab... ORPHA:2162
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Depressed nasal ridge, Talipes equinovarus OMIM:613885
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Epiphyseal dysplasia, Short nose, Depressed nasal bridge OMIM:614732
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Abdominal aortic aneurysm, Aortic ... ORPHA:91387
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Depressed nasal tip, Distal shortening of limbs, Broad nasal tip, Small hand, Sp... ORPHA:488434
Cleft Larynx, Posterior
Cyanosis, Laryngeal stridor OMIM:215800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Camptodactyly, Broad long bones, Bowing of the long bones, Short ribs, Short long b... OMIM:224400
Hydrolethalus Syndrome 1
Stillbirth, Laryngeal hypoplasia, Ventricular septal defect, Complete atrioventricular canal defe... OMIM:236680
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Diastasis recti, Wide anterior fontanel, Short nose, Rhizomelia... OMIM:616638
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Congenital cystic adenomatoid malformation of the lung, Omphaloc... ORPHA:436252
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Hip dislocation, Arachnodactyly, Congenital diaphragmatic hernia OMIM:614100
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Recurrent upper respiratory tract infections, Flexion cont... ORPHA:391372
Kyphomelic Dysplasia
Radial bowing, Anterior rib cupping, Short femur, Micrognathia, Dumbbell-shaped humerus, Short hu... OMIM:211350
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections, Laryngeal cleft, Laryngomalacia ORPHA:2004
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Short nose, Limited knee extension, Rhizomeli... OMIM:258315
Complete Atrioventricular Septal Defect
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ve... ORPHA:1329
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Increased susceptibilit... ORPHA:2176
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Lowry-Maclean Syndrome
Osteoporosis, Convex nasal ridge, Craniosynostosis, Short nose, Short nasal bridge, Choanal atres... ORPHA:2409
Dysostosis, Stanescu Type
Convex nasal ridge, Abnormal dental enamel morphology, Massively thickened long bone cortices, Ab... ORPHA:1798
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Peho-Like Syndrome
Short nose OMIM:617507
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Short nose, Choanal stenosis, Micrognathia... OMIM:259775
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous nose, Tapered finger,... OMIM:613870
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm... OMIM:191440
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Patent ductus arteriosus, Omphalocel... ORPHA:1519
Ohdo Syndrome
Joint laxity, Short nose, Wide nasal bridge, Clinodactyly of the 5th finger, Micrognathia, Anteve... OMIM:249620
Distal Trisomy 5Q
Hypoplasia of the radius, Craniosynostosis, Short nose, Hypoplasia of the ulna, Hernia, Absent th... ORPHA:96097
Bartsocas-Papas Syndrome
Toe syndactyly, Short nose, Underdeveloped nasal alae, Synostosis of joints, Finger syndactyly, A... ORPHA:1234
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Breath-Holding Spells
Cyanosis OMIM:607578
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Anteverted nares, Short nose, Down-sloping shoulders, Clinodactyly, Slender toe, Sl... ORPHA:391408
Boomerang Dysplasia
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neonatal death, Absent ra... OMIM:112310
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic dissection, Emphysema, Aortic root aneurysm, Ingui... OMIM:614816
Thanatophoric Dysplasia Type 1
Short femur, Wide anterior fontanel, Split hand, Hypoplastic ilia, Short greater sciatic notch, B... ORPHA:1860
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Inguinal hernia, Increased susceptibility to fractures,... OMIM:609220
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Geleophysic Dysplasia 3
Bulbous nose, Anteverted nares, Subglottic stenosis, Pneumonia, Limb undergrowth, Wide nasal brid... OMIM:617809
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Protrusio acetabuli, Wide anterior fontanel, Absent pulmonary artery... OMIM:610682
3C Syndrome
Hand polydactyly, Short nose, Finger syndactyly, Death in infancy, Wide nasal bridge, Inguinal he... ORPHA:7
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelia, Talipes equinovarus, Metatarsal... OMIM:163400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Bulbous nose, Acetabular dy... ORPHA:508533
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Microgna... OMIM:617866
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Oculodentodigital Dysplasia
Abnormal dental enamel morphology, Underdeveloped nasal alae, Hyperostosis, Abnormality of the me... ORPHA:2710
Gms Syndrome
Small hand, Short nose, Short palm, Depressed nasal bridge OMIM:138770
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Toe syndactyly, Short nose, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93260
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma OMIM:618913
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Neonatal death, Syndactyly, Micrognathia OMIM:228940
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Short nose ORPHA:2598
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Anteverted nares, Short nose, Laryngeal hypoplasia, Abnormality of the la... OMIM:217980
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Limited elbow extension, Convex nasal ridge, Finger joint hypermobility, Joint laxit... OMIM:618870
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Postaxial hand polydactyly, Short nose ORPHA:1389
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Congenital hip dislocation, Short nose, Recurrent upper respiratory tract inf... ORPHA:3078
Thanatophoric Dysplasia Type 2
Joint hyperflexibility, Aplasia/Hypoplasia of the lungs, Depressed nasal bridge, Abnormality of t... ORPHA:93274
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Shortening of all phalanges of fingers, Mesomelia, Shortening of all meta... OMIM:601356
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Flexion contracture, Limb undergrowth, Wide nasal bridge, Osteopenia, Hip dislocation OMIM:618005
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Omphalocele, Umbilical hernia, Abnormal lung lobation ORPHA:2166
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Short 5th metacarpal, Sandal gap, Spina bifida occulta, Short toe, 11 pairs of ribs, ... OMIM:617877
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Prominent calcaneus, Talipes equinovarus, Convex nasal ridge, Broad thumb, Short nose, Generalize... ORPHA:251028
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Broad ribs, Metaphyseal irregularity, Flared il... OMIM:253200
Gm1 Gangliosidosis
Camptodactyly of finger, Depressed nasal ridge, Abnormality of epiphysis morphology, Limb undergr... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Absent nasal bridge, Rhizomelia, Mesomelia, Brachydactyly ORPHA:171866
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Coarctation of aorta, Int... ORPHA:1923
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Emphysema, Acute infectious pneumonia, Hemoptysis, R... ORPHA:60033
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short 4th finger,... ORPHA:2756
Craniofaciofrontodigital Syndrome
Joint hypermobility, Short nose, Broad ribs, Hypoplastic pelvis, Hypoplastic vertebral bodies, An... OMIM:114620
Meacham Syndrome