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Gene: Fgfrl1 MGI:2150920

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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:
fibroblast growth factor receptor-like 1
Synonyms:
fibroblast growth factor receptor 5,  FGFR5gamma,  FGFR5beta,  FGFR5

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 Fgfrl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fgfrl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly, Scoliosis, Pectus excavatum, Short stature, Cam... ORPHA:1388
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb u... OMIM:613630
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short nose, Perimembranous ventricular septal defect, Transposition of the great arte... OMIM:617877
Rhizomelic Syndrome
Rhizomelia, Wide anterior fontanel, Short stature, Pulmonic stenosis, Micrognathia, Bifid distal ... OMIM:268250
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Macrocephaly, Triphalangeal thumb, Hypospadias, Inguinal hernia,... ORPHA:36
Marshall-Smith Syndrome
Short mandibular rami, Kyphoscoliosis, Tall stature, Retrognathia, Prominent fingertip pads, Hype... OMIM:602535
Eng-Strom Syndrome
Arthritis, Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, In... ORPHA:1937
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Vesicour... ORPHA:1166
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Campto... OMIM:179613
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Pectus carinatum, Thoracic kyphoscoliosis, Pectus excavatum, Pro... OMIM:618371
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Carpal osteolysis, Metatarsal osteolysis,... OMIM:166300
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
3C Syndrome
Abnormal hip bone morphology, Kyphosis, Death in infancy, Pulmonic stenosis, Abnormal mitral valv... ORPHA:7
Sandestig-Stefanova Syndrome
Rocker bottom foot, Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Abnormal intervertebral disk morphology, Hydrocephalus, Pectus excavatum, Hypertrophi... ORPHA:2701
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Short sta... ORPHA:3319
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Macrocephaly, Finger syndactyly, Postaxial hand polydactyly, Bro... ORPHA:380
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Wide anterior fontanel, Short sternum, Malar flatten... OMIM:222448
Frontometaphyseal Dysplasia 1
Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increased density of long bone... OMIM:305620
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Clinodactyly of the 5th toe, Retrognathia, Long nose, Clinodactyly ... OMIM:620113
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Polycystic kidney dysplasia, Wide ... OMIM:263210
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Short nose, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformat... OMIM:257300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Ventricu... ORPHA:508498
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Hemivertebrae, Missing ribs, Pulmonic stenosis, Aortic ... OMIM:220210
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Anemia, Camptodactyly, Death in infancy, Neonatal death... OMIM:608104
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger ... ORPHA:1520
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Pectus excavatum, Limited kn... OMIM:618870
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Scoliosis, Pulmonic stenosis, Enamel hypoplasia, Umbili... OMIM:618205
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of... OMIM:619751
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Retinal telangiectasia, Cutaneous photosensitivity, Microcephaly... ORPHA:438134
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Short stature, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial... OMIM:249670
Bardet-Biedl Syndrome 16
Polydactyly, Respiratory distress, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic k... OMIM:615993
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Subdural hemorrhage, Pectus excavatum, Postaxial po... OMIM:311900
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Scoliosis, Pectus excavatum, Postaxial polydactyly, Short ... ORPHA:2886
Marinesco-Sjögren Syndrome
Muscular dystrophy, Abnormal metacarpal morphology, Abnormal finger morphology, Aplasia/Hypoplasi... ORPHA:559
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Recurrent si... OMIM:609029
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Macrocephaly, Wide anterior fontanel, Omphalocele, Proteinuria, ... ORPHA:2143
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Limitation of joint mobility, Pectu... ORPHA:376
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Platyspondyly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wi... OMIM:620076
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Long clavicles, Bell-shaped thorax, Thin ribs, Diastasis recti, Pul... OMIM:608149
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Neona... OMIM:253310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Butterfly vertebrae, Retrognathia, Abnormal left ventricular function, Metopi... OMIM:301056
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Pectus excavatum, Short met... OMIM:618150
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Narrow ch... OMIM:618853
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Pulmonic stenosis, Aortic valve stenosis, Intrau... ORPHA:96170
Scarf Syndrome
Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Diastasis recti, Short... ORPHA:3134
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Tall stature, Short greater sciati... OMIM:312870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Kyphosis, Umbilical hernia, Clinodact... OMIM:301040
Ogden Syndrome
Left atrial enlargement, Sandal gap, Pectus excavatum, Premature ventricular contraction, Umbilic... OMIM:300855
Frontometaphyseal Dysplasia
Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broad thumb, Urethral stenos... ORPHA:1826
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat... OMIM:143095
Scarf Syndrome
Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c... OMIM:312830
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Intrauterin... OMIM:122470
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Narrow chest, Delay... ORPHA:166272
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Microcephaly, Acrocyanosis, Tapered finger OMIM:302000
Noonan Syndrome 12
Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Tetralogy... OMIM:618624
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density, Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Short sta... OMIM:615279
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Distal lower limb muscle weakness, Lower limb amyotrophy, Scoliosis, Hyperlordosis, Scapular wing... OMIM:615290
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S... OMIM:618167
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Short distal phalanx of finger, Increased density of long bones, Ventriculomegaly,... OMIM:269150
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Hypospadias, Broad thumb, Microcephaly, Brachydactyly, Micropenis OMIM:300978
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Dental malocclusion, Patent foramen ovale, Pulmonic stenosis, Abn... OMIM:619149
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Cardiomegaly, Hypertrophic cardiomyopathy, Intr... OMIM:620135
Three M Syndrome 1
Short ribs, Hyperlordosis, Pectus excavatum, Hypoplastic pelvis, Joint hypermobility, Intrauterin... OMIM:273750
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion con... ORPHA:1143
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Genu recurvatum, Pectus carinatum, Hyperextensibili... OMIM:609008
Momo Syndrome
Abnormal bone ossification, Tall stature, Delayed eruption of teeth, Femoral bowing, Overgrowth, ... ORPHA:2563
3P25.3 Microdeletion Syndrome
Atrial septal defect, Sacral dimple, Proximal placement of thumb, Patent ductus arteriosus, Scoli... ORPHA:435638
Sotos Syndrome
Tall stature, Muscular ventricular septal defect, Genu valgum, Advanced eruption of teeth, Scolio... OMIM:117550
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Sacral dimple, Cubitus valgus, Narrow chest, Abnormal form of the vertebral bodies, D... ORPHA:1327
Wrinkly Skin Syndrome
Pectus excavatum, Kyphosis, Umbilical hernia, Intrauterine growth retardation, Joint hypermobilit... OMIM:278250
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Cubitus valgus, Dental malocclusion, Abnormal sternum morph... OMIM:610733
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... OMIM:212780
Alg12-Cdg
Abnormal bone ossification, Muscular ventricular septal defect, Clinodactyly of the 5th finger, P... ORPHA:79324
Birk-Aharoni Syndrome
Micrognathia, Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb muscle weakness, Scoliosis, Facial diplegia, EMG: myopathic abnormalities, Nema... OMIM:609284
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Hypertension, Deat... OMIM:210710
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ethylmalonic aciduria, Microcephaly, Increased level of methylsuccinic acid... ORPHA:26792
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Clinodactyly of the 5th finger, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve ... ORPHA:2868
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory dist... ORPHA:2140
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Long ... ORPHA:363444
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Osteopenia, Short stature, Arachnodactyly, Growth delay, Pulmonic stenosis, Aorti... ORPHA:75496
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphol... ORPHA:392
Zaki Syndrome
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Ectrodactyly, Hypoplasia of the ... OMIM:619648
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Hypospadias, Proximal placement of th... ORPHA:94065
Chromosome 9P Deletion Syndrome
Clinodactyly of the 5th toe, Perimembranous ventricular septal defect, Atrial septal defect, Retr... OMIM:158170
Noonan Syndrome 14
Limited elbow extension, Cubitus valgus, Aortic regurgitation, Pectus carinatum, Scapular winging... OMIM:619745
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Pe... ORPHA:536471
3Mc Syndrome 2
Caudal appendage, Torticollis, Hypospadias, Hypoplasia of the musculature, Diastasis recti, Radio... OMIM:265050
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Leukopenia, Syndactyl... OMIM:620654
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f... OMIM:156550
Noonan Syndrome 11
Pectus excavatum, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Atrial septal de... OMIM:618499
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly,... ORPHA:1001
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Proportionate short ... OMIM:277600
ERI1-related disease
Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Abnormal heart morpholo... OMIM:608739
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Micropenis, Microcephaly ORPHA:370079
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th... ORPHA:2370
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Limb hypertonia, Multiple muscular ventricular septal defects, Short stature,... OMIM:620070
Congenital Myopathy 22B, Severe Fetal
Tapered toe, Slender long bone, Shoulder flexion contracture, Hypoplasia of the musculature, Resp... OMIM:620369
Frontoocular Syndrome
Pectus excavatum, Pulmonic stenosis, Coronal craniosynostosis, Micrognathia, Atrial septal defect OMIM:605321
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Short stature, Aortic valve stenosis, M... ORPHA:228410
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Abnormality of the wrist, Abnormal zygomatic bone morphology, Abnormal... ORPHA:2511
Developmental Delay, Language Impairment, And Ocular Abnormalities
Scoliosis, Tethered cord, Myelomeningocele, Short stature, Pulmonic stenosis, Facial telangiectas... OMIM:620141
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy, Microcephaly ORPHA:85323
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Cardiomyopath... OMIM:253220
Koolen-De Vries Syndrome
Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Pulmonic stenosis, Bicus... OMIM:610443
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Torticollis, Abnormality of the shoulde... ORPHA:3181
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Pectus carin... OMIM:620663
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Perimembranous ventricular septal defect, Retrognathia, Short nose, Dea... OMIM:608779
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o... OMIM:271665
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal d... OMIM:618651
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Toriello-Carey Syndrome
Postnatal growth retardation, Short nose, Narrow chest, Wide anterior fontanel, Dandy-Walker malf... ORPHA:3338
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Torticollis, Flared metaphysis, Hypoplasia of the ... ORPHA:79328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Momo Syndrome
Delayed eruption of teeth, Overgrowth, Short sternum, Short neck, Dental malocclusion, Wide nasal... OMIM:157980
Non-Distal Duplication 10Q
Short nose, Scoliosis, Pectus excavatum, Short stature, Micrognathia, Joint hypermobility ORPHA:1695
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Enlarged thor... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Enlarged thor... ORPHA:99228
Monosomy X
Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Enlarged thor... ORPHA:99226
Turner Syndrome
Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Enlarged thor... ORPHA:881
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Short lo... OMIM:608728
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Dyspnea, Mic... ORPHA:86812
Trisomy 1Q
Congenital diaphragmatic hernia, Macrocephaly, Congenital megaureter, Omphalocele, Camptodactyly ... ORPHA:261344
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Wide anterior fontanel, Focal segmental glomeru... OMIM:194080
Weill-Marchesani Syndrome
Limitation of joint mobility, Short stature, Aortic valve stenosis, Pulmonic stenosis, Short thum... ORPHA:3449
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Noonan Syndrome 7
Cubitus valgus, Pectus carinatum, Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Short... OMIM:613706
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Ventriculomegaly, Abnormal sternum morphology, Scoliosis, Tapered fi... OMIM:616737
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Urethral diverticulum, Omphalocele, Displacement of the urethral... ORPHA:95706
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Exertional dyspnea, Abnormality of masticatory muscle, Triceps wea... ORPHA:98913
Noonan Syndrome 8
Patent ductus arteriosus, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Short stature... OMIM:615355
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Mitral valve prolapse... OMIM:182212
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atro... ORPHA:238329
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Legius Syndrome
Short neck, Micrognathia, Pectus excavatum, Supravalvar pulmonary stenosis OMIM:611431
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short stature, Tapered finger ORPHA:276630
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:261102
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Abnormal sternum morphology, Pectus excavatum, Hypertrophic car... OMIM:613224
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Macrocephaly, Hypospadias, Inguinal hernia, Finger syndactyly, A... ORPHA:2311
Shprintzen-Goldberg Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st... ORPHA:2462
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Flexion contracture, Hip dislocation ORPHA:171719
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Short sternum, Posta... OMIM:258850
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Respiratory distress, Delayed cranial suture closure, Dyspnea, Mandibul... ORPHA:1832
Aarskog-Scott Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger synda... ORPHA:915
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoi... ORPHA:2596
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Congenital finger flexion contractures, Kyphosis... ORPHA:536516
Serkal Syndrome
Congenital diaphragmatic hernia, Hypospadias, Renal agenesis, Hypoplasia of the bladder, Abnormal... ORPHA:139466
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Om... OMIM:601163
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Recurrent fractures, Worm... OMIM:259440
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Short thorax, Scoliosis, Pectus excavatum, Short stature, Ovoid v... OMIM:619451
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosi... OMIM:614399
Noonan Syndrome With Multiple Lentigines
Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal mitral valve morphology, Mitral v... ORPHA:500
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Splenomegaly, Bullet-... OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Loss of truncal subcutaneous adipose tissue, Thin metacarpal cortices, Slender long bone, Hypopla... ORPHA:2463
Congenital Myopathy 22A, Classic
Spinal rigidity, Bradycardia, Pectus excavatum, Kyphosis, Congenital finger flexion contractures,... OMIM:620351
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Vertebral wedging, Pectus carinatum, Scoliosis, Pectus excavatum, Biconca... OMIM:301014
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria, Acrocyanosis OMIM:123540
Lateral Meningocele Syndrome
Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Joint hypermobility, Bi... OMIM:130720
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Macrocephaly, Hypoplasia of the musculature, Facial palsy, Tapered finger,... OMIM:254940
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Short stature, Brachydactyly... OMIM:620062
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Patellar hypoplasia, Ureteral stenosis, Microcephaly, Hypoxemi... ORPHA:2257
Czeizel-Losonci Syndrome
Congenital megaureter, Hitchhiker thumb, Aplasia of the left hemidiaphragm, Ectrodactyly, Split f... ORPHA:2437
Fixed Subaortic Stenosis
Exertional dyspnea, Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiom... ORPHA:3092
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microcephaly, Sandal gap OMIM:300887
Campomelic Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate... OMIM:114290
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Wide anterior fontanel, Overgrowth, Pectus excavatum, Kyphosis, Micrognathia, Umbi... OMIM:618272
Temple-Baraitser Syndrome
Pseudoepiphysis of the thumb, Proximal placement of thumb, Broad thumb, Pulmonic stenosis, Long h... OMIM:611816
Myopathy, Myofibrillar, 8
Spinal rigidity, Tall stature, Central core regions in muscle fibers, Joint contracture of the 5t... OMIM:617258
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Rocker bottom foot, Deviation of the 5th toe, Macrocephaly, Rena... ORPHA:1692
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Hypospadias, Postaxial hand polydactyly, Microcephaly, Brachydac... ORPHA:2075
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Patent foramen... OMIM:618914
Walker-Warburg Syndrome
Muscular dystrophy, Macrocephaly, Hypoplasia of penis, Aplasia/Hypoplasia involving the skeletal ... ORPHA:899
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal pelvic girdle bone morphology... ORPHA:1834
Congenital Gerbode Defect
Ankle swelling, Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tric... ORPHA:99095
Tetrasomy 5P
Postnatal growth retardation, Congestive heart failure, Short nose, Clinodactyly of the 5th finge... ORPHA:3309
Noonan Syndrome 5
Cubitus valgus, Abnormal sternum morphology, Mandibular prognathia, Hypertrophic cardiomyopathy, ... OMIM:611553
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Anencephaly, Encephalocele, Narrow chest, Patent ductus arteriosus, D... OMIM:619148
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... ORPHA:2260
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Sandal gap, Pectus excavatum, Dis... ORPHA:230851
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Growth delay, Short palm, Short stature, Intrauterine growth retardation, Wide ... ORPHA:73273
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Clinodactyly, Hypospadias, Respiratory distress OMIM:300934
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, Facial hypotonia, 2-3 toe syndactyly, Scoliosis, Tapered finger, Pectus excavatum, ... OMIM:618659
8P23.1 Duplication Syndrome
Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Retrognathia, Sandal gap, Dislocated radial head, Prominent fing... OMIM:135900
Cardiofaciocutaneous Syndrome 4
Abnormal aortic valve morphology, Ventricular septal hypertrophy, Scoliosis, Pectus excavatum, Sh... OMIM:615280
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation OMIM:614100
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad clavicles, Short long bone, Pectus excavatum, Kyphosis, Mitral valve prolap... OMIM:249420
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Myocardial necrosis, Neutropenia, Enlargement of the costochondral ... OMIM:260400
Noonan Syndrome 2
Abnormal sternum morphology, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus e... OMIM:605275
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypoplastic pelvis, Split foot, Umbili... ORPHA:2092
Coffin-Siris Syndrome 6
Kyphoscoliosis, Retrognathia, Pectus excavatum, Short stature, Micrognathia, Brachydactyly, Diaph... OMIM:617808
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Tbck-Related Intellectual Disability Syndrome
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Scoliosis, Diastasis recti, Pectus... ORPHA:488632
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Short stature, ... ORPHA:93302
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:99811
Metachondromatosis
Pulmonic stenosis, Bowing of the long bones, Abnormal joint morphology, Multiple enchondromatosis OMIM:156250
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Orofaciodigital Syndrome Type 3
Dandy-Walker malformation, Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short... ORPHA:2752
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Short 2nd toe, Pectus excavatum, Short stature, Camptodactyly... ORPHA:1326
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Pectus excavatum, Short statu... ORPHA:156728
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Intrin... ORPHA:90103
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Pectus excavatum, Arachnodactyly, S... ORPHA:536467
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Joint contracture, Microcephaly OMIM:225790
Cardiofaciocutaneous Syndrome 1
Osteopenia, Short nose, Clinodactyly of the 5th finger, Cubitus valgus, Dental malocclusion, Hydr... OMIM:115150
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Pectus excavatum, ... OMIM:304120
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Apnea, Cyanotic episode, Death in infancy OMIM:610992
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac... OMIM:215140
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Ectopic kidney, Respiratory distress, Morgagni diaphragmatic her... OMIM:613309
Costello Syndrome
Joint hypermobility, Abnormal dental enamel morphology, Ventricular septal defect, Thickened Achi... ORPHA:3071
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Hypospadias, Medullary nephrocalcinosis, Con... ORPHA:363528
Mucopolysaccharidosis-Plus Syndrome
Pectus carinatum, Clubbing, Pectus excavatum, Flared iliac wing, Leukopenia, Splenomegaly, Neutro... OMIM:617303
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Ventr... OMIM:600987
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Facial palsy, Short stature, Type 1 fibers relat... OMIM:300580
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Microcephaly, Arachnodactyly, Abnormality of the kidney, Hypospadias, S... ORPHA:2461
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Short metacarpal, Pectus excavatum, Kyph... ORPHA:192
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l... OMIM:261540
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Fiber type grouping, ... OMIM:620011
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, 2-3 toe syndactyly, Microcephaly, Umbilical hernia, Tapered fing... ORPHA:284180
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Lujan-Fryns Syndrome
Scoliosis, Pectus excavatum, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Ar... ORPHA:776
Dominant Beta-Thalassemia
Jaundice, Genu valgum, Hypoplasia of the musculature, Dyspnea, Bowing of the long bones ORPHA:231226
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Dysplastic tricuspid valve, Joint hypermobility, Cone-shaped epi... OMIM:157800
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral... OMIM:212720
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Osteopenia, Lambdoidal craniosynostosis, Hydrocephalus, Narrow ilia... OMIM:616294
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Neuralgic Amyotrophy
Scapular winging, Upper limb muscle weakness, Upper limb amyotrophy, Syndactyly, Acrocyanosis ORPHA:2901
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Syndactyly, Umbi... OMIM:618164
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Pectus excavatum, Cam... ORPHA:272
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D... OMIM:256050
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S... OMIM:618728
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Pulmonic stenosis, Spinal canal stenosis, Micrognathia, Recurrent sinusitis, Joint hypermobility,... OMIM:618282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Abnormal renal corticomedullary differentiation, Flexion contracture, Left ... OMIM:616733
Noonan Syndrome 10
Cubitus valgus, Patent ductus arteriosus, Pectus carinatum, Scoliosis, Pectus excavatum, Hypertro... OMIM:616564
Cohen Syndrome
Delayed puberty, Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Arachnodac... ORPHA:193
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Prolonged QT interval, Cubitus valgus, Upper limb undergrowth, Otoscler... ORPHA:529962
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Rhizomelia, Platyspondyly, Narrow chest, Respiratory distress, Hydrocep... OMIM:616482
Neurofibromatosis-Noonan Syndrome
Short stature, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal thorax morphology ORPHA:638
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Bell-shaped thorax, Abnormal di... ORPHA:1842
Atelis Syndrome 2
Sacral dimple, Anemia, Dyspnea, Supravalvar pulmonary stenosis, Kyphosis, Pulmonic stenosis, Micr... OMIM:620185
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Bell-shaped thorax, Spina bifida oc... OMIM:613686
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Kyphoscoliosis, Genu valgum, Irregular epiphyses... OMIM:222600
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, ... OMIM:614262
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Diamond-Blackfan Anemia 6
Retrognathia, Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular ... OMIM:612561
Arthrogryposis, Distal, Type 5
Exertional dyspnea, Firm muscles, Scoliosis, Absent phalangeal crease, Recurrent patellar disloca... OMIM:108145
Schisis Association
Congenital diaphragmatic hernia, Renal agenesis, Microcephaly, Omphalocele ORPHA:63862
Typical Nemaline Myopathy
Nocturnal hypoventilation, Spinal rigidity, Facial diplegia, Hyperlordosis, Pectus excavatum, Kyp... ORPHA:171436
Dubowitz Syndrome
Sandal gap, Pectus excavatum, Broad thumb, Abnormality of thumb phalanx, Joint hypermobility, Cra... ORPHA:235
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress OMIM:619099
Braddock Syndrome
Congenital muscular torticollis, Scoliosis, Hemivertebrae, Pectus excavatum, Missing ribs, Pulmon... ORPHA:52047
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of t... ORPHA:97360
Usmani-Riazuddin Syndrome, Autosomal Recessive
Joint hypermobility, Lumbar scoliosis, Pectus excavatum OMIM:619548
Leopard Syndrome 1
Delayed puberty, Kyphoscoliosis, Limited elbow movement, Cubitus valgus, Spina bifida occulta, Pe... OMIM:151100
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Arachnoda... ORPHA:284984
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Distal Deletion 10Q
Sandal gap, Facial diplegia, Prominent fingertip pads, Pectus excavatum, Lateral ventricle dilata... ORPHA:96148
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular... ORPHA:98855
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Inguinal hernia, Microcephaly, Arachnodactyly, Bladder diverticu... OMIM:219100
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme... ORPHA:1120
Vacterl/Vater Association
Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Finger syndact... ORPHA:887
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Microcephaly, Short distal phalanx of the 5th fing... OMIM:614608
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Hypoplastic left atrium, Truncus arterios... OMIM:601186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Patent ductus ... ORPHA:284169
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Hypochromic microcytic anemia, Growth ... ORPHA:66634
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Tracheomalacia, Camptodactyly, Short stature, Pulmonic stenosis, Mi... ORPHA:314679
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypospadias, Proximal placement of thumb, Biparietal narrowing, ... ORPHA:251071
Distal Duplication 15Q
Tall stature, Congenital muscular torticollis, Pectus excavatum, Joint stiffness, Camptodactyly o... ORPHA:1707
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Delayed clos... OMIM:610759
Costello Syndrome
Limited elbow movement, Rhabdomyosarcoma, Pectus carinatum, Overgrowth, Pulmonic stenosis, Mitral... OMIM:218040
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Arthritis,... OMIM:108300
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Weill-Marchesani Syndrome 3
Short stature, Joint stiffness, Aortic valve stenosis, Pulmonic stenosis, Brachydactyly OMIM:614819
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Short nose, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Scolios... OMIM:617061
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Retrognathia, Long clavicles, Perimembranous ventricular septal def... ORPHA:83617
Malaria
Acute kidney injury, Respiratory distress ORPHA:673
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pectus carinatum, Broad thumb, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Clinodac... OMIM:612541
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular... ORPHA:98863
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Chylopericardium, Respiratory distress, Pulmonary arterial hypertension... ORPHA:2414
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Short thorax, Abnormal metatarsal morphology, Enlarged thorax, Short long bone, P... ORPHA:163654
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ... OMIM:183900
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Scoliosis, Mandibular prognathia, Pectus excavatum,... OMIM:300624
Mcdonough Syndrome
Scoliosis, Mandibular prognathia, Pectus excavatum, Kyphosis, Short stature, Micrognathia, Aplasi... ORPHA:2471
Tyshchenko Syndrome
Narrow chest, Pectus excavatum, Short stature, Pulmonic stenosis, Intrauterine growth retardation... OMIM:615102
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right ... OMIM:306955
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular... ORPHA:98853
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Short neck, Scoliosis, Pectus excavatum, Decreased hip abduction, Congenital hip ... OMIM:114300
Spinocerebellar Ataxia, Autosomal Recessive 31
Retrognathia, Death in childhood, Clinodactyly of the 5th finger, Pectus excavatum, Growth delay,... OMIM:619422
Cleft Palate-Large Ears-Small Head Syndrome
Pectus excavatum, Short stature, Micrognathia, Skeletal muscle atrophy, Short distal phalanx of f... ORPHA:2013
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hand polydactyly, Macrocephaly, Multicystic kidney dysplasia ORPHA:261197
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Narrow chest, Tracheomalacia, Respiratory distress, Wide... OMIM:217980
Houge-Janssens Syndrome 3
Ventriculomegaly, Atrial septal defect, Muscular ventricular septal defect, Umbilical hernia OMIM:618354
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Bell-shaped thorax, Hammertoe, Lumbosacral meningoc... OMIM:608022
Noonan Syndrome 3
Short nose, Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Pectus carinatum, Patent ... OMIM:609942
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Pectus excavatum OMIM:609384
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Pe... OMIM:607778
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Pectus carinatum, Aortic valve stenosis, Bicuspid aortic valve, Card... ORPHA:363705
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Type 1 ... ORPHA:2020
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Ureteral duplication, Macrocephaly, Abnormal ilium morphology, V... OMIM:614080
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Hyper... OMIM:616817
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Pectus excavatum, Short metacarpal, Broad thumb, Pulmoni... OMIM:617137
Muscular Hypertonia, Lethal
Umbilical hernia, Respiratory distress, Death in infancy OMIM:254120
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Tall stature, Abnormal sternum morphology, Pectus carinatum, Overgrowth, Pulmonic stenosis, Abnor... ORPHA:137634
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Short stature, Pulmonic stenosis, Hypoplasia of teeth, Car... OMIM:613312
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr... ORPHA:800
Beta-Thalassemia Major
Jaundice, Genu valgum, Hypoplasia of the musculature, Dyspnea, Bowing of the long bones ORPHA:231214
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Organic aciduria, Respiratory distress OMIM:614741
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, 2-3 toe syndactyly, Pulmonic stenosis, Micrognathia, Tetralogy of Fallot, Cl... ORPHA:3304
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Respiratory distress ORPHA:171703
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Macrocephaly, Jaundice, Generalized aminoaciduria, Respiratory distress, Renal... OMIM:231680
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... ORPHA:2990
Cardiofaciocutaneous Syndrome
Short nose, Genu valgum, Cubitus valgus, Hydrocephalus, Abnormal heart valve morphology, Scoliosi... ORPHA:1340
Chromosome 10Q26 Deletion Syndrome
Postnatal growth retardation, Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial devia... OMIM:609625
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Deviation of the 5th toe, Kyphoscoliosis, Short nose, Joint hypermobility, Sever... ORPHA:391408
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger... OMIM:602782
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Respiratory distress, Glandular hypospadias, Death in infancy, Centrally nucleated s... OMIM:300219
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle weakness, S... ORPHA:2912
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina... ORPHA:949
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Hydrocephalus, Broa... OMIM:612582
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Short nose, Patent foramen ovale, Scoliosis, Ventri... OMIM:618316
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontane... OMIM:113000
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Pectus excavatum, Short metacarpal, Knee... OMIM:615777
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra... OMIM:105650
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, R... OMIM:613848
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Narrow chest, Squared iliac bones, Hypoplastic pubic ... ORPHA:2746
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Clinodactyly of the 5th finger, Patent ductus arteriosus, Patent foramen ovale, Scoliosis, Pectus... ORPHA:329224
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Pulmonic ... OMIM:619123
Cohen Syndrome
Delayed puberty, Genu valgum, Cubitus valgus, Short metatarsal, Facial hypotonia, Short metacarpa... OMIM:216550
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Ventriculomegaly, Pectus carinatum, Short stature, Broad thumb, H... ORPHA:261295
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio... ORPHA:175
Global Developmental Delay With Or Without Impaired Intellectual Development
Pectus excavatum, Short stature, Lateral ventricle dilatation, Patent ductus arteriosus, Atrial s... OMIM:618330
Lateral Meningocele Syndrome
Syringomyelia, Dural ectasia, Craniofacial hyperostosis, Meningocele, Abnormal form of the verteb... ORPHA:2789
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Microcephaly, Joint contracture, Respiratory distress OMIM:617977
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Long nose, Short nose, Clinodactyly of the 5th finger, Sandal ga... OMIM:617602
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, ... ORPHA:363958
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, Tall stature, Dural ectasia, Narrow chest, Hydrocephalus, Hyperextensibility of the... OMIM:616914
Intellectual Developmental Disorder, Autosomal Dominant 43
Tapered finger, Pulmonic stenosis, Umbilical hernia, Hip dysplasia, Wide nasal bridge OMIM:616977
Kabuki Syndrome 2
Postnatal growth retardation, Atrioventricular canal defect, Joint hypermobility, Dental malocclu... OMIM:300867
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent fingertip pads, Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short distal phal... OMIM:612474
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn... ORPHA:1423
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Pectus excav... ORPHA:2970
Ulbright-Hodes Syndrome
Postnatal growth retardation, Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Th... ORPHA:3404
Hamamy Syndrome
Pectus excavatum, Syndactyly, Prolonged QRS complex, Craniosynostosis, Long toe, Neck pterygia, H... OMIM:611174
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Tall stature, Narrow chest, Pectus carinatum, Scoliosis, Mandibular prognathia, Pectus excavatum,... OMIM:300676
Christianson Syndrome
Death in early adulthood, Mandibular prognathia, Pectus excavatum, Decreased muscle mass, Joint h... ORPHA:85278
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Abnormal B cell morphology, ... OMIM:618223
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Pectus excavatu... ORPHA:3242
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Craniosynostosis, Pectus carinatum, Patent foramen ovale, Right bundle branch block, Scoliosis, P... OMIM:617506
Moebius Syndrome
Radial deviation of finger, Respiratory distress, Facial diplegia, Aplasia/Hypoplasia involving t... OMIM:157900
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Respiratory distress, Patent foramen ovale, Hypoplastic spleen, Microretrogna... ORPHA:89844
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Growth delay, Genera... OMIM:613561
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Monosomy 18Q
Kyphoscoliosis, Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Hy... ORPHA:1600
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Disproportionate short-limb short stature, Sandal gap, Pectus carin... ORPHA:1507
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal fractures, Dentinogene... OMIM:610682
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Renal cyst, Death in infancy,... OMIM:613390
Alpha-Mannosidosis, Infantile Form
Pectus carinatum, Pectus excavatum, Joint stiffness, Disproportionate tall stature, Umbilical her... ORPHA:309282
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Hyperlordosis, Internally rotated shoulders, Joint hypermobility, Ven... OMIM:619503
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal hip bone morphology, Campt... ORPHA:1488
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Insulin-Like Growth Factor I, Resistance To
Short finger, Retrognathia, Radial deviation of finger, Sandal gap, Patent foramen ovale, Ventric... OMIM:270450
Monosomy 18P
Kyphoscoliosis, Enlarged thorax, Hypertension, Pectus excavatum, Short stature, Carious teeth, Mi... ORPHA:1598
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Hand polydactyly, Tetralog... ORPHA:261243
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Polycystic kid... OMIM:200980
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Scoliosis, Dyspnea, Pectus excavatum, Tricuspid re... ORPHA:555877
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Cyanosis, Central apnea ORPHA:71277
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Lateral ventricle dilatation, Left ventricul... OMIM:611209
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Tall stature, Pectus carinatum, Scoliosis, Limitation of joint mobility, Pectus e... OMIM:236200
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Pectus excavatum, Short me... OMIM:150250
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Cubitus valgus, Pectus excavatum, Short stature, Malar flattening, Tapered finger ORPHA:85280
Branchial Arch Syndrome, X-Linked
Short stature, Pulmonic stenosis OMIM:301950
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Jansen-De Vries Syndrome
Brachydactyly, Short foot, Central diaphragmatic hernia, Small hand OMIM:617450
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Joint hypermobility, S... OMIM:305400
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Pectus excavatum, Short stature, Abnormal mitral valve morphology, Micrognathi... ORPHA:1131
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:90653
Noonan Syndrome 1
Kyphoscoliosis, Radial deviation of finger, Superior pectus carinatum, Abnormal sternum morpholog... OMIM:163950
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyly, Arachnodactyly, Disproportionate ta... OMIM:301039
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Cran... ORPHA:3219
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pectus carinatum, Joint stiffness, Abnormal heart morphology, Leukopenia, Hydrocephalus, Patent f... ORPHA:505248
Houge-Janssens Syndrome 2
Facial hypotonia, Hydrocephalus, Scoliosis, Pectus excavatum, Prominent metopic ridge, Postaxial ... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Atrial septal defect, Transposition of the great arteries, Spinal rigidity, E... OMIM:253800
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Skeletal myopathy, Metaphyseal irregul... ORPHA:750
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In... OMIM:618454
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Pulmonic stenosis, Sinusitis, Proportionate tall... ORPHA:363700
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Microcephaly ORPHA:2409
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Cubitus valgus, Pectus excavatum, Short stature, Arachnodactyly, Partial duplicat... OMIM:618348
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Pectus excavatum, Disproportionate tall stature, Mitral valve prolapse, ... ORPHA:1900
Severe Acute Respiratory Syndrome
Acute kidney injury, Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Intellectual Developmental Disorder, Autosomal Dominant 45
Scoliosis, Pulmonic stenosis, Arachnodactyly, Slender build, Heart murmur OMIM:617600
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Hypoplasia of the radius, Radial deviation of finger, Triphalang... OMIM:154400
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Spinal rigidity, Scoliosis, Pectus excavatum, Increased variability in muscle... OMIM:617066
Cap Myopathy
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Pectus excavatum, Reduced systolic functi... ORPHA:171881
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthr... OMIM:618155
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Spinal rigidity, Scoliosis, EMG: myopathic abnormalities, Pectus excavatum, Limb... ORPHA:486815
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Short stature, Pulmonic stenosis, Enamel hypoplasia, Secundum atrial se... OMIM:615802
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Micrognathia, Cervical ribs, Wide nasal bridge ORPHA:77300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Thoracolumbar kyphosis, Platyspondyly, Dislocated r... OMIM:617425
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Hypoplastic iliac wing, Pectus excavatum, Umbilical hernia, Scoliosis, Camptodactyl... OMIM:235510
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Abnormal dental enamel morphology, Scoliosis, Vertebral segme... ORPHA:96169
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Hypospadias, Split hand, Omphalocele,... ORPHA:1335
Mitral Valve Prolapse 1
Pectus excavatum, Disproportionate tall stature, Mitral valve prolapse, Mitral regurgitation, Rev... OMIM:157700
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Osteoglophonic Dysplasia
Eruption failure, Pectus excavatum, Broad metatarsal, Short metacarpal, Broad thumb, Severe short... OMIM:166250
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Ventriculomegaly, Respiratory distress, Pectus carinatum, Scoliosis, Delayed cranial ... OMIM:619383
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Congenital Disorder Of Glycosylation, Type Ie
Secondary microcephaly, Muscular dystrophy, Ankle flexion contracture, Knee flexion contracture, ... OMIM:608799
Cutis Laxa, Autosomal Recessive, Type Iiia
Joint hypermobility, Distal amyotrophy, Scoliosis, Wormian bones, Pectus excavatum, Congenital hi... OMIM:219150
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Congenital muscular torticollis, Finger syndactyly, Scoliosis, Dyspne... ORPHA:2215
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Intrauterine growth ... OMIM:224690
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Short stature, Hypoplasia of the... OMIM:608154
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, ... OMIM:617641
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Pectus carinatum, Pectus excavatum, Proportionate short sta... OMIM:609654
Degcags Syndrome
Retrognathia, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Syndactyly, Intrauterine... OMIM:619488
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Pectus carinatum, Pectus excavatum, Long fingers, Tapered finger OMIM:609425
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sandal gap, Scoliosis, Vertebral segmentation defect, Pectus exc... OMIM:612530
X-Linked Intellectual Disability, Abidi Type
Short stature, Scoliosis, Pectus excavatum ORPHA:85273
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Pectus e... OMIM:130000
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Pectus excavatum, Short stature, Micrognathia, Symphalangism affe... ORPHA:1636
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Respiratory distress, Scoliosis, Death in infancy, Congenital contracture, Micrognathia OMIM:615042
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Pectus carinatum, Tapered finger, Pectus excavatum, Epiphyseal dysplasi... OMIM:607131
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Renal hypoplas... ORPHA:958
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Pectus carinatum, Pectus excavatum, Short phalanx of finger, Pericardial effusion, ... OMIM:614684
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Sinus tachycardia,... OMIM:253200
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation, Death in infancy, P... OMIM:619433
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Ventriculomegaly, Scoliosis, Vertebral segmentation defec... ORPHA:1988
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Abnormal fibula morphology, Abnormal femur morphology, Inguinal ... ORPHA:2063
Fliedner-Zweier Syndrome
Meningocele, Scoliosis, Tethered cord, Pectus excavatum, Kyphosis, Bicuspid aortic valve, Joint h... OMIM:620511
Trisomy X
Tall stature, Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Joint hypermobilit... ORPHA:3375
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Pectus excavatum, Radioulnar synostosis ORPHA:3270
Loeys-Dietz Syndrome 3
Retrognathia, Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Ventricular hyper... OMIM:613795
Distal Duplication 18Q
Short nose, Clinodactyly of the 5th finger, Pectus excavatum, Deviation of finger, Camptodactyly ... ORPHA:1716
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Coffin-Siris Syndrome 4
Short phalanx of the 5th toe, Patent ductus arteriosus, Dandy-Walker malformation, Scoliosis, Ven... OMIM:614609
Allan-Herndon-Dudley Syndrome
Scoliosis, Pectus excavatum, Generalized amyotrophy, Flexion contracture, Hallux valgus OMIM:300523
Fryns Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Hypospadias, Vesicoureteral refl... ORPHA:2059
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cubitus valgus, Pectus excavatum, Camptodactyly, Micrognathia, Knee flexion contracture, Down-slo... OMIM:619694
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Retrognathia, Tall stature, Flexion contracture of toe, Spondylolisthesis, Pectus... OMIM:615582
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Tachycardia, Truncus arteriosus, Short stature, Pulmoni... ORPHA:3426
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Disproportionate short-limb short stature, Pectus carinatum, Pectus excavatum, Decrea... OMIM:259410
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Death in childhood, Micropenis, Respiratory distress OMIM:615597
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Respiratory distress OMIM:612075
Williams Syndrome
Abnormal form of the vertebral bodies, Hypertension, Hyperlordosis, Pectus excavatum, Cerebral is... ORPHA:904
Boudin-Mortier Syndrome
Pseudoepiphysis of the 1st metacarpal, Tall stature, Pseudoepiphyses of the proximal phalanges of... OMIM:619543
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Overlapping toe, Craniosynostosis, Sa... OMIM:213980
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Retrognathia, Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly OMIM:619092
Coffin-Siris Syndrome 7
Clinodactyly of the 5th finger, Patent foramen ovale, Pectus excavatum, Short stature, Brachydact... OMIM:618027
Brittle Cornea Syndrome
Scoliosis, Camptodactyly, Osteoporosis, Pulmonic stenosis, Arachnodactyly, Mitral valve prolapse,... ORPHA:90354
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractur... OMIM:121050
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Scoliosis, Mandibular prognathia, Overgrowt... OMIM:614753
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Urogenital sinus anomaly OMIM:618901
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Persistent fetal circulation, Patent ductus arteriosus, Sandal gap, Respira... OMIM:612863
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Arboleda-Tham Syndrome
Sandal gap, Lower limb amyotrophy, Pectus excavatum, Pulmonic stenosis, Lower limb hypertonia, Up... OMIM:616268
Geleophysic Dysplasia 1
Short long bone, Wrist flexion contracture, Pectus excavatum, Aortic valve stenosis, Joint stiffn... OMIM:231050
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Mandibular prognathia, Short ... OMIM:601216
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Paget disease of bone, Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Abnorm... OMIM:167320
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Congenital Myopathy 24
Facial palsy, Scapular winging, Pectus excavatum, Nemaline bodies, Cardiomyopathy, First degree a... OMIM:617336
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han... OMIM:618569
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Retrognathia, HbH hemoglobin, Pectus carinatum, Short stature, Micrognathia, Short toe, Flexion c... ORPHA:98791
2P15P16.1 Microdeletion Syndrome
Retrognathia, Tall stature, Aortic regurgitation, Sandal gap, Scoliosis, Enlarged thorax, Facial ... ORPHA:261349
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Tall stature, Prolonged QT interval, Cardiomyopathy, Pectus exca... ORPHA:373
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cutaneous telangiectasia, Cutaneous photosensitivity, Microcepha... OMIM:615919
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Respiratory distress OMIM:606164
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Single ventricle of indeterminate morphology, Miscarriage, T... OMIM:620294
Acrootoocular Syndrome
Kyphoscoliosis, Short finger, Grayish enamel, Supernumerary tooth, Sandal gap, Abnormality of fac... ORPHA:2980
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Hypoplasia of the musculature, Camptodactyly of finger, Umbilical hernia, Ulnar ... ORPHA:1101
De Barsy Syndrome
Postnatal growth retardation, Kyphoscoliosis, Osteopenia, Patent ductus arteriosus, Delayed erupt... ORPHA:2962
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Hydrocephalus, Sco... ORPHA:99947
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Aortic regurgitation, Melena, Hypotension, Pulmon... ORPHA:99147
Trisomy 18
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Postaxial hand polydactyly, Abnorm... ORPHA:3380
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Respiratory distress, Hemi... ORPHA:2759
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... OMIM:615382
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Pectus excavatum ORPHA:1375
Hypophosphatasia, Infantile
Stillbirth, Anemia, Disproportionate short-limb short stature, Unossified vertebral bodies, Metap... OMIM:241500
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Hydrocephalus, Scoliosis, Wormian bones, Pectus excavatum, Bowing of the long bones, ... OMIM:612940
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Spinal cord tumor, Broad distal phalanx of finger, Broad thumb, Pulmonic stenosis, Aortic valve s... ORPHA:353281
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
Legius Syndrome
Polydactyly, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Acute monocy... ORPHA:137605
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Increased vertebral height, Slender long bone, Pancytopenia, Thoracic ky... OMIM:613385
Monosomy 9Q22.3
Polydactyly, Short nose, Rhabdomyosarcoma, Tall stature, Abnormality of the vertebral column, Del... ORPHA:77301
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone... ORPHA:239
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bell-shaped thorax, Disproportionate short-limb short stature, Scoliosis, Wo... OMIM:619131
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Pectus carinatum, Pectus excavatum, Micrognathia, Osteoarthritis,... ORPHA:166100
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Hip dysplasia ORPHA:412035
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Joint hypermobility, Intrauterine growth retardation, Cone-sh... ORPHA:439822
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Sudden episodic apnea, Microcephaly, Rhabdomyolysis, Oliguria, Cyanosis ORPHA:159
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Osteopenia, Retrognathia, Proximal placement of thumb, Slender long... OMIM:212066
Gaucher Disease, Perinatal Lethal
Retrognathia, Short nose, Anemia, Cardiomegaly, Respiratory distress, Micrognathia, Neonatal deat... OMIM:608013
Codas Syndrome
Short nose, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental ena... ORPHA:1458
Aortic Aneurysm, Familial Thoracic 9
Dural ectasia, Atrial fibrillation, Pectus carinatum, Pectus excavatum, Arachnodactyly, Dispropor... OMIM:616166
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis... OMIM:245600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arter... OMIM:619657
Acrofacial Dysostosis, Catania Type
Short nose, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Pectus excav... ORPHA:1786
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Arachnodactyly, Disproportionate tall stature... ORPHA:536545
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Broad thumb, Pulmonic stenosis, Aortic ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Broad thumb, Pulmonic stenosis, Aortic ... ORPHA:353277
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruis... ORPHA:335
Orofaciodigital Syndrome Ii
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Hydrocephalus, Scoliosis, Postaxial hand ... OMIM:252100
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type... ORPHA:596
Sprengel Deformity
Neck muscle hypoplasia, Shoulder muscle hypoplasia OMIM:184400
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short middle phalanx of th... ORPHA:391641
Nail-Patella Syndrome
Abnormal femur morphology, Spondylolysis, Spondylolisthesis, Reduced bone mineral density, Disloc... ORPHA:2614
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Narrow chest, Resp... OMIM:617088
Van Maldergem Syndrome 1
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Camptodactyly,... OMIM:601390
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Retrognathia, Tibial bowing, Abnormal heart morphology, Umbilical he... ORPHA:798
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Homocystinuria, Respiratory distress, Slender finger, Microcephaly, Methylmalonic aciduria OMIM:250940
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of facial muscul... ORPHA:254875
Arthrogryposis Multiplex Congenita 6
Death in childhood, Hypospadias, Nemaline bodies, Death in infancy, Increased variability in musc... OMIM:619334
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Short long bone, Death in infancy, Ureteral ... OMIM:618845
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasi... ORPHA:1647
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger... OMIM:610967
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Overlapping toe, Sacrococc... ORPHA:221120
Cleidocranial Dysplasia
Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morpholog... ORPHA:1452
Atelosteogenesis, Type Iii
Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker... OMIM:108721
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Pectus carinatum, Scolios... OMIM:208050
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Genu recurvatum, Calcaneovalgus deformity, Pectus excavatum, Mitral valve p... OMIM:225320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Flared metaphysis, Dysplasia o... OMIM:615349
Jacobsen Syndrome
Short nose, Clinodactyly of the 5th finger, Hydrocephalus, Pectus excavatum, Missing ribs, Microg... OMIM:147791
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ref... ORPHA:79329
Cat Eye Syndrome
Tricuspid atresia, Patent ductus arteriosus, Total anomalous pulmonary venous return, Short statu... OMIM:115470
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Respiratory distress ORPHA:77260
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Scoliosis, Pectus excavatum, Short stature, Short neck, Abnormal heart morphology, Mi... OMIM:618571
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Pectus excavatum, Joint stiffness, Elevated hemoglobin A1c, Left ventricular hypertro... OMIM:619127
Chromosome 2P16.1-P15 Deletion Syndrome
Postnatal growth retardation, Kyphoscoliosis, Retrognathia, Pectus excavatum, Camptodactyly, Calc... OMIM:612513
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Retrognathia, Hypoventilation, Anemia, Patent ductus arteriosus, Patent foramen ovale... ORPHA:438213
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Wormian bones, Bowing of the ... ORPHA:2097
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left hemidiaphragm, Patent ductus arte... ORPHA:2847
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Facial p... OMIM:301022
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Hypertension, Aortic valve s... OMIM:139210
16P11.2P12.2 Microduplication Syndrome
Pectus excavatum ORPHA:261204
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm... ORPHA:536532
Cranioectodermal Dysplasia 4
Broad distal phalanx of finger, Narrow chest, Broad phalanx of the toes, Pectus excavatum, Short ... OMIM:614378
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Cervical ribs, Perimembranous ventricular septal defect, Transpo... OMIM:600001
Monosomy 13Q34
Osteochondrosis, Postaxial hand polydactyly, Growth delay, Pulmonic stenosis, Micrognathia, Commo... ORPHA:96168
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dilatation of renal calices, Long fingers, Inguinal hernia OMIM:614294
Ectopia Lentis 1, Isolated, Autosomal Dominant
Tall stature, Pectus carinatum, Scoliosis, Reduced upper to lower segment ratio, Pectus excavatum... OMIM:129600
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Hypospadias, Omphalocele, Renal agenesis, Patent... OMIM:313850
Microphthalmia, Syndromic 2
Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Umbilical hernia, 2-... OMIM:300166
Thanatophoric Dysplasia, Type I
Platyspondyly, Disproportionate short-limb short stature, Short greater sciatic notch, Flared met... OMIM:187600
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Abnormality of dental eruption, Clinodactyly of the 5th finger, Dextrocardia, Dandy... ORPHA:96092
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Death in childhood, Inguinal hernia, Sandal gap, Morgagni diaphragm... OMIM:613177
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Retrognathia, Pectus excavatum, Aortic valve stenosis, Joint hyp... ORPHA:96121
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowing ORPHA:1915
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Pectus excavatum, Abnormal heart morphology, Cer... ORPHA:508488
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Hypospadias, Broad hallux, Conge... OMIM:304110
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Patent ductus arteriosus, Narrow chest, Splenic cyst, R... OMIM:618188
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, Inguinal hernia, Respiratory distress, Microcephaly, Skeletal muscle atrophy OMIM:619272
Noonan Syndrome 9
Short stature, Short neck, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Kabuki Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys... ORPHA:2322
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Anter... OMIM:136760
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Elbow flexion contracture, Pectus excavatum, Osteoporosis, Short stature... OMIM:616200
Trichohepatoenteric Syndrome 1
Large placenta, Aortic regurgitation, Thrombocytosis, Ventricular septal defect, Pulmonic stenosi... OMIM:222470
Ring Chromosome 10 Syndrome
Sandal gap, Pectus excavatum, Micrognathia, Intrauterine growth retardation, Short neck, Wide nas... ORPHA:1438
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Joint disloc... ORPHA:53
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Truncus arteriosus, Femoral bowing, Hypertrophic cardiomyopat... OMIM:615415
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Short s... OMIM:268850
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Exertional dyspnea, Weakness of facial musculature, Respiratory distress, Gly... OMIM:220110
Marfan Syndrome
Kyphoscoliosis, Retrognathia, Tall stature, Spondylolisthesis, Pectus carinatum, Reduced upper to... OMIM:154700
Distal Deletion 15Q
Congenital diaphragmatic hernia, Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Hypospa... ORPHA:1596
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Polycystic kidney dysplasia, Postaxial pol... OMIM:616546
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Abno... ORPHA:1686
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Retrognathia, Large placenta, Joint hypermobility, Diastasis recti,... ORPHA:254528
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Short palm, Ectopic kidney, Foot polydactyly ORPHA:268249
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Hydronephrosis ORPHA:1780
Alfadhel Syndrome
Microcephaly, Horseshoe kidney, Nasal flaring OMIM:620655
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasi... ORPHA:818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Short nose, Lambdoidal craniosynostosis, Ankle clonus, Scolio... OMIM:615398
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Respiratory distress, Metacarpophalangeal joint contracture, Scoliosis, Wrist hypermo... ORPHA:544503
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Decreased glomerular filtration rate, Progressive microcephaly, Nephrotic syndrome, ... ORPHA:488627
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Tall stature, Hyperextensibility of the finger joints, Pectus excavatum, Broad thumb, ... OMIM:309520
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Pectus excavat... OMIM:180700
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Pectus carinatum, Mandibular progna... ORPHA:3079
Avian Influenza
Acute kidney injury, Respiratory distress, Miscarriage, Dyspnea, Hypoxemia, Rhabdomyolysis, Tachy... ORPHA:454836
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Narrow chest, Abnormal form of the vertebral bodies, Hydrocephalus, Bone cyst, Narrow ili... ORPHA:3042
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, Scoliosis, Hemivertebrae, Pectus excavat... OMIM:104350
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress, Left ventricular hypertrophy OMIM:616974
Marfan Syndrome
Limited elbow movement, Retrognathia, Reduced bone mineral density, Spondylolisthesis, Pectus car... ORPHA:558
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Scoliosis, Pectus excavatum, Short stature, Patent ductus arteriosus, Short neck, V... ORPHA:52055
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Renal agenesis, Hypospadias, Hypoplasia of the bladder OMIM:611812
White-Sutton Syndrome
Congenital diaphragmatic hernia, Duplicated collecting system, Facial hypotonia, Microcephaly, Br... OMIM:616364
Intellectual Developmental Disorder, Autosomal Dominant 7
Pectus excavatum, Short stature, Micrognathia, Intrauterine growth retardation, Hallux valgus, Bi... OMIM:614104
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent thumb, Syndactyly... OMIM:607323
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral ... OMIM:222765
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Clinodactyly of the 5th finger, Spina bifida occulta, Valvular pulmonary s... OMIM:300707
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Patent ductus arteriosus, Respiratory distress, Dandy-Walker malformation, Scolios... OMIM:300968
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer... OMIM:108720
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Dyspnea, Pectus excavatum, Growth delay,... ORPHA:765
Stt3B-Cdg
Microcephaly, Micropenis, Respiratory distress ORPHA:370924
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor... OMIM:170390
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clino... OMIM:618162
C Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Disloc... ORPHA:1308
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Short fourth m... OMIM:615546
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Asymmetry of the thorax, Macrocytic a... OMIM:250250
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy... OMIM:274000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, 2-3 toe syndactyly, Facial diplegia, Scoliosis, Limb muscle weakness, Hypoplasia of t... OMIM:218000
Hereditary Methemoglobinemia
Microcephaly, Cyanosis, Exertional dyspnea ORPHA:621
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Hallermann-Streiff Syndrome
Hypertension, Hyperlordosis, Pectus excavatum, Joint hypermobility, Telangiectasia, Decreased num... OMIM:234100
Raine Syndrome
Short nose, Subperiosteal bone formation, Increased bone mineral density, Hydrocephalus, Mandibul... OMIM:259775
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cubitus valgus, Aortic regurgitation, Abnormal sternum morphology, Myelofibrosis, Hypertrophic ca... OMIM:607721
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Peters Plus Syndrome
Disproportionate short-limb short stature, Pulmonic stenosis, Umbilical hernia, Intrauterine grow... ORPHA:709
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cranioectodermal Dysplasia 2
Retrognathia, Short ribs, Hypertension, Pectus excavatum, Mesomelia, Syndactyly, Splenomegaly, Le... OMIM:613610
Noonan Syndrome
Pectus carinatum, Enlarged thorax, Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall mus... ORPHA:648
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Absent thumb OMIM:619239
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Ureteral duplication, Short metacarpal, Microcephaly, Split foot... OMIM:305600
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Wide anterior fontanel, Anemia of inadequate production, Hypertrophic... OMIM:613673
Bohring-Opitz Syndrome
Retrognathia, Bradycardia, Pectus excavatum, Lower limb hypertonia, Cardiomegaly, Intrauterine gr... ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Tall stature, Vertebral compression fracture, Pectus carinatum, Hyperextensibilit... OMIM:309583
Maxillonasal Dysplasia
Short nose, Patchy distortion of vertebrae, Scoliosis, Mandibular prognathia, Vertebral clefting,... ORPHA:1248
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Camptodactyly, Slender finger, Pulmonic stenosis, Long fingers, Micrognathia, Joint... OMIM:618343
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... ORPHA:485
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Osteopenia, Acute infantile spinal muscular atrophy, Respiratory distress, Pe... OMIM:271225
Hurler Syndrome
Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Kyphosis, Biconcave vertebral bodies, ... OMIM:607014
Pagod Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Omphalocele, Death in infancy, Microce... ORPHA:991
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t... OMIM:166210
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen... ORPHA:37553
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation OMIM:611376
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity,... ORPHA:99646
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Umbilical hernia, Joint h... OMIM:601808
Neu-Laxova Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Microcephaly, Flexion ... ORPHA:2671
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Respiratory distress, Pate... OMIM:607143
Van Den Ende-Gupta Syndrome
Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met... OMIM:600920
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Shield chest, Short neck, Pectus excavatum, Thoracic scoliosis OMIM:616994
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis, Abnormal mitral valve morphology... ORPHA:217085
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Temporomandibular joi... OMIM:614669
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Vesicoureteral reflux, Omphalocele... ORPHA:2745
Loeys-Dietz Syndrome 1
Retrognathia, Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum,... OMIM:609192
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Cyanosis, Sudden episodic apnea, Frontalis muscle weakness, Di... ORPHA:590
Loeys-Dietz Syndrome 2
Retrognathia, Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum,... OMIM:610168
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Cyanosis, Sudden episodic apnea, Frontalis muscle weakness, Di... ORPHA:98914
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Scoliosis, Mandibular prognathia, Scap... ORPHA:98915
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Dicarboxylic aciduria, Myopathy, Respiratory distress OMIM:212140
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Retrognathia, Disproportionate short stature, Clinodactyly of the... ORPHA:2637
Charge Syndrome
Delayed puberty, Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Bifid femur, Umbili... OMIM:214800
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Tibial bowing, Enamel hypomineralization, Metaphyseal irregularity, Rickets, Fibu... OMIM:307800
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis, Abnormal mitral valve morphology... ORPHA:217093
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Platyspondyly, Spatulate ribs, Aortic regurgitation, Br... OMIM:619698
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent urinary tract infections, Microcephaly OMIM:616777
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscle fiber necrosi... OMIM:618733
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Tapered finger, Pectus... ORPHA:476126
Au-Kline Syndrome
Retrognathia, Syringomyelia, Sacral dimple, Clinodactyly of the 5th finger, Short nose, Craniosyn... OMIM:616580
Malan Overgrowth Syndrome
Tall stature, Slender long bone, Scoliosis, Pectus excavatum, Lateral ventricle dilatation, Ventr... ORPHA:420179
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Arthritis, Scoliosis, Pectus excavatum, Disproportionate tall stature, Bicu... OMIM:619825
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Respiratory di... ORPHA:226313
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis, Limb hypertonia, Pectus excavatum, Short stature, Flexion contracture, Skeletal m... ORPHA:59
Transaldolase Deficiency
Anemia, Pancytopenia, Wide anterior fontanel, Patent foramen ovale, Hepatosplenomegaly, Splenomeg... OMIM:606003
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font... OMIM:620099
Recombinant 8 Syndrome
Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Pectus excavatum, Camptod... ORPHA:96167
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis,... OMIM:619910
Hsd10 Disease, Infantile Type
Microcephaly, Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the ... ORPHA:391428
Qazi-Markouizos Syndrome
Torticollis, Delayed ossification of carpal bones, Pectus excavatum, Hypoplasia of teeth, Tapered... ORPHA:3010
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cervical spinal canal stenosis, Long nose, Clinodactyly of the 5th finger, Torticollis, Scoliosis... OMIM:620224
Isolated Atp Synthase Deficiency
Microcephaly, 3-Methylglutaconic aciduria, Renal hypoplasia, Respiratory distress ORPHA:254913
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Pectus excavatum, Congenital finger flexion contractures, Deviation of finger, Arachnodactyly, Jo... ORPHA:1154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Respiratory distress, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Immunodeficiency 95
Respiratory distress, Lymphopenia OMIM:619773
Catel-Manzke Syndrome
Pectus carinatum, Pectus excavatum, Short metacarpal, Ulnar deviation of the 2nd finger, Short hu... OMIM:616145
Mogs-Cdg
Hypoventilation, Retrognathia, Respiratory distress, Left ventricular hypertrophy, Apnea, Hepatos... ORPHA:79330
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Atlantoaxial abnormality, P... ORPHA:3455
Arterial Tortuosity Syndrome
Rocker bottom foot, Hypertension, Arachnodactyly, Joint hypermobility, Craniosynostosis, Coxa val... ORPHA:3342
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormality of the vertebral column, Hydrocephalus, Short stature, Hy... OMIM:109120
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Right ventricular hypertrophy, Hyperoxemia, Central apnea ORPHA:70589
Meacham Syndrome
Congenital diaphragmatic hernia, Hypoplasia of penis, Crossed fused renal ectopia, Patent ductus ... ORPHA:3097
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Pectus excavatum, Short stature, Thoracolumbar scoliosis, Patent ductus arteriosus,... OMIM:300472
Mucopolysaccharidosis Type 2
Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis, Abnormal epiphyseal ossification... ORPHA:580
Williams-Beuren Syndrome
Kyphoscoliosis, Hypertension, Pectus excavatum, Pulmonic stenosis, Mitral valve prolapse, Umbilic... OMIM:194050
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Renal steatosis, Cyanosis, Ketonuria OMIM:261680
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture, Pr... ORPHA:284417
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Anemia, Slender long bone, Thin ribs, D... OMIM:244460
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Macs Syndrome
Scoliosis, Pectus excavatum, Osteoporosis, Short stature, Micrognathia, Brachydactyly, Umbilical ... OMIM:613075
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Aortic regurgitation, Scoliosis, Ventricular septal defect, Pectus exc... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Acromesomelia, Ventriculomegal... ORPHA:464306
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Cubitus valgus, Superior pectus carinatum, Scoliosis, Pectu... OMIM:601321
Meacham Syndrome
Stillbirth, Enlarged kidney, Death in childhood, Aplasia of the left hemidiaphragm, Death in infa... OMIM:608978
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Fumarase Deficiency
Polycythemia, Perimembranous ventricular septal defect, Ventriculomegaly OMIM:606812
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cubitus valgus, Facial hypotonia, Mandibular prognathia, Pectus excavatum, Short stature, Lower l... OMIM:300534
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Skeletal muscle hypertr... ORPHA:2588
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Thoracic... ORPHA:93352
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Lymphopenia, Intrauterine growth retardation, Neutropenia, Pancy... OMIM:242900
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radius, Adducted thumb, Pat... ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Lacticaciduria OMIM:615595
20Q11.2 Microduplication Syndrome
Limited elbow extension, Retrognathia, Short nose, Sacral dimple, Clinodactyly of the 5th finger,... ORPHA:363659
Prader-Willi Syndrome Due To Translocation
Retrognathia, Short nose, Clinodactyly of the 5th finger, Respiratory distress, Patent foramen ov... ORPHA:177907
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microcephaly-Capillary Malformation Syndrome
Short nose, Patent foramen ovale, Short stature, Hypoplasia of the maxilla, Brachydactyly, Right ... OMIM:614261
3Q29 Microdeletion Syndrome
Short nose, Clinodactyly of the 5th finger, Pectus carinatum, Tapered finger, Pectus excavatum, P... ORPHA:65286
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Long nose, Short nose, Slender long bone, Hydrocephalus, Scoliosis, Right bundle bran... OMIM:618590
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Facial palsy, Tachypnea,... ORPHA:31826
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin... ORPHA:93315
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Monosomy 9P
Congenital diaphragmatic hernia, Hypospadias, Proximal placement of thumb, Postaxial hand polydac... ORPHA:261112
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae, Ethylmalonic aciduria OMIM:602473
White-Sutton Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Duplicated collecting system, F... ORPHA:468678
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal her... ORPHA:1272
High Altitude Pulmonary Edema
Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
17Q11 Microdeletion Syndrome
Delayed puberty, Rhabdomyosarcoma, Hypertension, Kyphosis, Pulmonic stenosis, Abnormal heart morp... ORPHA:97685
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Progressive microcephaly, Mi... OMIM:614407
Mosaic Trisomy 20
Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, K... ORPHA:1724
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Prominent fingertip pads, Hyperlordosis, Pectus excavatum, Short lower limbs, Abnorma... OMIM:615873
Pfeiffer Syndrome Type 3
Short hallux, Finger syndactyly, Respiratory distress, Vesicoureteral reflux, Short foot, Broad t... ORPHA:93260
Perlman Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Nephroblastomatosi... OMIM:267000
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Hypoplasia ... ORPHA:93262
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, H... OMIM:266920
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Postnatal growth retardation, Retrognathia, Juvenile myelomonocytic leukemia, Cubitus valgus, Joi... OMIM:613563
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, Ragged-red muscle fibers, Death in infancy, Microcephaly, Apnea, Skeletal muscle atr... OMIM:252010
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, 3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadia... ORPHA:17
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Farber Disease
Short finger, Abnormality of the wrist, Anemia, Respiratory distress, Abnormal sternum morphology... ORPHA:333
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm... ORPHA:2519
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pectus excavatum, Arachnodactyly, Mitral valve prolapse, Umbilical hernia, Joint hypermobility, V... OMIM:601776
Mucolipidosis Iii Gamma
Genu valgum, Claw hand deformity, Flat capital femoral epiphysis, Aortic regurgitation, Shoulder ... OMIM:252605
Trisomy 13
Narrow chest, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Abno... ORPHA:3378
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pectus excavatum, Colpocephaly, Lateral ventricle dilatation, Cardiomegaly, Splenic cyst, Hydroce... OMIM:620371
Khan-Khan-Katsanis Syndrome
Short nose, Sacral dimple, Anemia, Patent foramen ovale, Scoliosis, Tethered cord, Tricuspid regu... OMIM:618460
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Leiomyo... ORPHA:116
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Weakness of facial musculature, Scoliosis, EMG: myopathic abno... ORPHA:502423
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Cervical ribs, Hypoplasia of right ventricle, Transposition of t... ORPHA:2255
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Nephrocalcinosis, Postaxial polydactyly OMIM:615633
Kaposiform Lymphangiomatosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Epi... ORPHA:464329
Autosomal Dominant Robinow Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Severe s... ORPHA:3107
Keutel Syndrome
Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hallux, Miscarriage, Hypert... OMIM:245150
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Aortic regurgitation... OMIM:252600
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Cyanosis, Overtubulated long bones OMIM:619793
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Pectus excavatum, Synostosis of carpal... ORPHA:957
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Pectus carinatum, Pectus excavatum, Camptodactyly, Short st... OMIM:272950
16P13.11 Microdeletion Syndrome
Short nose, Pectus excavatum, Short stature, Camptodactyly of finger, Holoprosencephaly, Metatars... ORPHA:261236
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Postnatal growth retardation, Osteopenia, Sacral dimple, Prominent protruding coccyx, Joint hyper... OMIM:300966
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Flared metaphysis, Sandwich appe... OMIM:259700
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Slender long bone, Upper limb undergrowth, Scoliosis, Restrictive cardiomyopathy, Pec... ORPHA:369837
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext... OMIM:231070
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Proximal placement of thumb, Respiratory distress, Slender finger, Short stature, Mic... OMIM:610536
Hyperphosphatasia-Intellectual Disability Syndrome
Scoliosis, Mandibular prognathia, Pectus excavatum, Growth delay, Shortening of all distal phalan... ORPHA:247262
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat... OMIM:173800
Holoprosencephaly
Congenital diaphragmatic hernia, Macrocephaly, Hypoplasia of penis, Omphalocele, Microcephaly, Ha... ORPHA:2162
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Retrognathia, Persistence of hemoglobin F, Short stature, Micrognathia, Anterior concavity of tho... OMIM:617101
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormality of the kidney, Hypospadias, Hypoplastic pubic ramus,... ORPHA:280
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Respiratory distress, Mandibular p... OMIM:620278
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Macrocytic dyserythropoietic anemia, Abn... ORPHA:124
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Trichohepatoneurodevelopmental Syndrome
Fibular bowing, Clinodactyly of the 5th finger, Narrow chest, Patent ductus arteriosus, Scoliosis... OMIM:618268
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Radio-Renal Syndrome
Hypoplasia of the radius, Retrognathia, Abnormal form of the vertebral bodies, Respiratory distre... ORPHA:3015
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Scoliosis, Diastasis recti, Pectus excavatum, Micrognathia, Ventriculomegaly OMIM:618548
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Umbilical hernia, Hip dysplasia OMIM:618846
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r... OMIM:620067
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Death in infancy, Microcephaly, Overlapping toe, Cyanosis, Renal insufficiency OMIM:617478
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Splenomegaly, Intrauterine growth retardation, Short fi... OMIM:269860
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis, Scoliosis, Hyperventilation OMIM:614325
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Truncus Arteriosus
Transposition of the great arteries, Cardiomegaly, Aortic regurgitation, Tachycardia, Abnormal he... ORPHA:3384
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Pectus excava... OMIM:613458
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Rhizomelia, Respiratory distress, Growth delay, Micrognathia, Leukopeni... OMIM:616271
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Clubbing, Dyspnea, Death in infancy, Hypoxemia, Neonata... OMIM:610921
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hypospadias, Microcephaly, Chordee, Micropenis OMIM:309801
Multiple Pterygium Syndrome, X-Linked
Short finger, Flexion contracture, Amyoplasia OMIM:312150
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Short clavicles, Mandibular prognathia, Short stature, Renovascular hyperte... ORPHA:401923
Alagille Syndrome 2
Long nose, Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect OMIM:610205
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Limb hypertonia, Pectus carinatum, Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thu... ORPHA:481152
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:828
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M... ORPHA:2133
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Death in infancy, Increased va... OMIM:604377
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Epispadias, Hypospadias, Respiratory distress, Abnormal dental e... ORPHA:2556
Zttk Syndrome
Kyphosis, Cervical ribs, Intrauterine growth retardation, Craniosynostosis, Ventriculomegaly, Joi... OMIM:617140
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Short palm, Clinodactyly, Hypoplasia of the maxilla, Tape... ORPHA:85279
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Dyspnea, Death in infancy, Neonatal death, Apnea, Tachypnea, Cyanosis OMIM:265120
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges... ORPHA:2256
Gaucher Disease, Type I
Anemia, Vertebral compression fracture, Pancytopenia, Hypertension, Dyspnea, Pulmonary arterial h... OMIM:230800
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Cr... ORPHA:1328
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Short stature, Coronal craniosynostosis, Mild intrauterine growth... OMIM:616943
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
2-4 toe cutaneous syndactyly, Retrognathia, Pectus excavatum, Kyphosis, Aortic valve stenosis, Ab... ORPHA:268261
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Short 1st metacarpal, Hypospadias, Multicystic kidney dysplasia,... ORPHA:199
Bannayan-Riley-Ruvalcaba Syndrome
Short nose, Tall stature, Angina pectoris, Scoliosis, Pectus excavatum, Short stature, Broad thum... ORPHA:109
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Short nose, Respiratory distress, Scoliosis, Micrognathia, Dental malocclusion, Contr... ORPHA:329178
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Secundum atrial septal defect, Skeletal muscle atrophy OMIM:614300
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Short nose, Hypoventilation, Respiratory distress, Prominent metopic ridge, Microgna... ORPHA:314655
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Skeletal muscle atrophy, Pectus excavatum OMIM:618603
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Pectus carinatum, Scoliosis, Fractures of the long bones, Pectus excavatum, Congenital hip disloc... ORPHA:496641
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Torticollis, Clinodactyly of the 2nd finger, Scoliosis, Prominent f... ORPHA:251061
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Micrognathia, Supernumerary ribs, Joint... OMIM:619122
Chilton-Okur-Chung Neurodevelopmental Syndrome
Asymmetry of the thorax, Pectus excavatum, Epistaxis, Mild fetal ventriculomegaly, Intrauterine g... OMIM:619841
Sepsis In Premature Infants
Purpura, Jaundice, Cyanosis, Petechiae, Dyspnea, Nasal flaring, Oliguria, Reversible renal failure ORPHA:90051
Peripartum Cardiomyopathy
Left atrial enlargement, Exertional dyspnea, Hypertension, Sinus tachycardia, Heart murmur, Left ... ORPHA:563
Asbestos Intoxication
Exertional dyspnea, Clubbing of fingers, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exe... ORPHA:2302
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Scoliosis, Mandibular prognathia, Pectus excavatum, Short stature, Increased v... OMIM:617675
Carpenter Syndrome 2
Retrognathia, Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Craniosynostosis... OMIM:614976
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ... ORPHA:198
Succinic Acidemia
Respiratory distress OMIM:600335
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Respiratory distress, Flaring of rib cage, Ost... OMIM:612852
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Pectus excavatum, Short stature, Brachydactyly, Hallux valgus OMIM:617180
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Abnormal vertebral morphology, Respirator... ORPHA:210122
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Respiratory distress, Microscopic hematuria, Prolonged neona... OMIM:274150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Hydrocephalus, Re... OMIM:259710
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Bicuspid aortic valve, S... OMIM:218330
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Cyanosis OMIM:250790
Beta-Thalassemia
Reduced bone mineral density, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Coffin-Lowry Syndrome
Short nose, Lumbar kyphosis, Dental malocclusion, Bifid sternum, Pectus carinatum, Hyperextensibi... OMIM:303600
Wrinkly Skin Syndrome
Postnatal growth retardation, Kyphoscoliosis, Osteopenia, Delayed eruption of teeth, Dandy-Walker... ORPHA:2834
Xq12-Q13.3 Duplication Syndrome
2-3 toe syndactyly, Pectus excavatum, Short stature, Generalized amyotrophy, Cutaneous finger syn... ORPHA:314389
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Micrognathia, Wide nasal bridge, Respiratory distress ORPHA:261304
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cyanosis, Respiratory distress, Apnea, Macroglossia, Myopathy OMIM:261740
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormality of the vertebral c... OMIM:123000
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar d... ORPHA:1529
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Flexion contracture of finger, Cervical ribs, Short distal phalanx o... OMIM:601812
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macro... OMIM:615512
Multiple Pterygium Syndrome, Lethal Type
Short finger, Flexion contracture, Amyoplasia OMIM:253290
Congenital Enterovirus Infection
Myocarditis, Anemia, Respiratory distress, Abnormal macrophage morphology, Cardiomyopathy, Hypote... ORPHA:292
Fucosidosis
Lipoatrophy, Vascular skin abnormality, Mucopolysacchariduria, Decreased muscle mass, Acrocyanosis ORPHA:349
Mucolipidosis Type Ii
Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Splenomegaly, Left ventricular hypert... ORPHA:576
Aredyld Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Scolios... ORPHA:1133
Diamond-Blackfan Anemia 21
Genu valgum, Cubitus valgus, Aortic regurgitation, Sandal gap, Anemia, Clinodactyly of the thumb,... OMIM:620072
Breath-Holding Spells
Cyanosis OMIM:607578
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Ethylmalonic aciduria ORPHA:51188
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Orthostatic hypotension, Narrow chest, Pectus carinatum, Br... OMIM:304150
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Malar prominence, Reticu... ORPHA:846
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:1302
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Anemia, Pancytopenia, Hydrocephalus, Bacterial endocarditis, Spontaneous, recurr... ORPHA:2072
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Preaxial polydactyly, Aplasia of the epiglottis, Supernumerary tooth, Da... OMIM:615948
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Short long bone, Tibial bowing, Death in infan... ORPHA:1106
Galloway-Mowat Syndrome 3
Hypertension, Pectus excavatum, Camptodactyly, Short stature, Arachnodactyly, Micrognathia, Intra... OMIM:617729
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Ear-Patella-Short Stature Syndrome
Retrognathia, Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Respiratory di... ORPHA:2554
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Hypoplastic pelvis, Renal agenesis, Urethral atresia OMIM:273395
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Hypoplasia of the ulna, Hypoplasia of the radius, Pectus excavatum,... OMIM:263750
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Broad distal phalanx of finger, Genu valgum, Disproportionate short-limb short stat... OMIM:619194
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Tularemia
Anemia, Respiratory distress, Leukocytosis, Thrombocytopenia, Tachycardia ORPHA:3392
Enthesitis-Related Juvenile Idiopathic Arthritis
Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Limited mobility of ... ORPHA:85438
Idiopathic Hypereosinophilic Syndrome
Myocardial eosinophilic infiltration, Clubbing, Splenomegaly, Supraventricular arrhythmia, Transi... ORPHA:3260
Holocarboxylase Synthetase Deficiency
Tachypnea, Organic aciduria, Respiratory distress ORPHA:79242
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Retrognathia, Death in childhood, Brady... OMIM:614437
Proximal Xq28 Duplication Syndrome
Short stature, Joint stiffness, Pectus excavatum ORPHA:1762
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Pulmonary Alveolar Microlithiasis
Exertional dyspnea, Hematuria, Clubbing of fingers, Stippled calcification in carpal bones, Dyspn... ORPHA:60025
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Mandibular prognathia, Facial palsy, Abnormal pel... OMIM:269500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Chronic hemolytic anemia, Ventricular hypertrophy, Pectus excavatum, Leukocyt... OMIM:618278
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Scoliosis, Cuboidal metacarpal, Abnormal pelvi... ORPHA:968
Waardenburg Syndrome Type 3
Abnormal finger morphology, Synostosis of carpal bones, Microcephaly, Camptodactyly of finger, Cu... ORPHA:896
Stüve-Wiedemann Syndrome
Flexion contracture of finger, Intrauterine growth retardation, Sacral dimple, Scoliosis, Elbow f... ORPHA:3206
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Ventriculomegaly, Cranial hyperostosis, Pancytopenia, Increased bone mineral densit... OMIM:259720
Ring Chromosome 12 Syndrome
Abnormal 5th finger morphology, Pectus excavatum, Growth delay, Symphalangism of the thumb, Secun... ORPHA:1439
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Sinusitis, A... ORPHA:811
Trichorhinophalangeal Syndrome, Type Ii
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s... OMIM:150230
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse... ORPHA:93311
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Facial palsy, Dyspnea, Hand ... OMIM:211530
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly, Proportionate short ... OMIM:227330
Agnathia-Otocephaly Complex
Situs inversus totalis, Tracheomalacia, Respiratory distress, Mandibular aplasia, Micrognathia, S... OMIM:202650
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Asymmetry of the thorax, Finger syndactyly, Scoliosis, Pectus excavatum, Kyphosis, Short stature,... ORPHA:1969
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... OMIM:619142
Restrictive Dermopathy 1
Rocker bottom foot, Kyphoscoliosis, Temporomandibular joint ankylosis, Overtubulated long bones, ... OMIM:275210
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Pectus excavatum, Short stature, Enamel hypoplasia, Malar flattening, Mitral valve prolapse, Addu... OMIM:618874
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Clubbing of fingers, Hypercalciuria, Metaphyseal cupping, Short l... OMIM:156400
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Pectus excavatum, Short stature, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Multiple Osteochondromas
Cervical myelopathy, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bon... ORPHA:321
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly... ORPHA:1788
Meckel Syndrome 14
Polycystic kidney dysplasia, Postaxial hand polydactyly, Bowing of the long bones, Postaxial poly... OMIM:619879
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Tetanus
Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Respiratory... ORPHA:3299
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Purpura, Hematuria, Myositis, Urticaria, Cutis marmorata, Proteinuria, Acrocyanos... ORPHA:183
Eisenmenger Syndrome
Exertional dyspnea, Clubbing, Aortopulmonary window, Left-to-right shunt, Abnormal heart morpholo... ORPHA:97214
Pleural Mesothelioma
Dyspnea, Abnormal cardiovascular system physiology, Abnormal thorax morphology, Respiratory distress ORPHA:50251
Alkaptonuria
Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Thickened Achilles... ORPHA:56
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced bone mineral density, Pectus excavatum, Joint stiffness, Micrognathia, Flexion contractur... ORPHA:1979
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bon... OMIM:615630
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Short stature, Craniosynostosis, Pectus excavatum ORPHA:314575
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Short stature, Broa... ORPHA:2662
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter... OMIM:146510
Developmental And Epileptic Encephalopathy 68
Microcephaly, Flexion contracture, Respiratory distress OMIM:618201
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Respiratory distress, Glandular hypospadias, Short femur, Short tibia OMIM:620306
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Short stature, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Preaxial ha... ORPHA:79113
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal fibula morphology, Retrognathia, Short nose, Sandal gap, Hydrocephalus, Abnormal dental ... ORPHA:1812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
D-Bifunctional Protein Deficiency
Osteopenia, Retrognathia, Hammertoe, Delayed cranial suture closure, Split hand, Pectus excavatum... OMIM:261515
Viss Syndrome
Rocker bottom foot, Retrognathia, Recurrent joint dislocation, Pectus carinatum, Coronary sinus e... OMIM:619472
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pectus excavatum OMIM:245349
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Asplenia, Micrognathia, Polysplenia OMIM:612776
Menkes Disease
Abnormal metaphysis morphology, Gastrointestinal hemorrhage, Tarsal synostosis, Chondrocalcinosis... ORPHA:565
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory distress, Flexion contracture, Skeletal muscle atrop... ORPHA:367
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Narrow chest, Absent sternal ossification, Short thorax, Slender long bone, ... OMIM:613803
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Short nose, Sacral dimple, Rhizomelia, Clinodactyly of the 5th fing... ORPHA:319182
Adams-Oliver Syndrome 1
Encephalocele, Ventriculomegaly, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis... OMIM:100300
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Tric... ORPHA:185
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Long clavicles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthropat... OMIM:259100
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Cardiomy... ORPHA:3472
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb amyotrophy, Hypoplasia of the maxilla, Short distal phalanx of finge... OMIM:300266
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Short stature, Foot polydactyly, Hand polydactyly, Postaxial poly... OMIM:258860
Gapo Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Asymmetry of the thorax, Abnormal f... ORPHA:2067
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Abnormality of the vertebral colum... ORPHA:228123
Renpenning Syndrome 1
Situs inversus totalis, Atrial septal defect, Death in childhood, Clinodactyly of the 5th finger,... OMIM:309500
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Deviation of the hallux, Aplasia of the epiglottis, Dandy-Walker malformatio... ORPHA:434179
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum, Omphalocele ORPHA:63260
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Right ventricular hypertrophy, Patent ductus arteriosus, Tachypnea, Cyanosis ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Ventriculomegaly, Scoliosis, Wide nasal bridge OMIM:300958
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pectus carinatum, Pectus excavatum, Aortic valve stenosis, Arachnodactyly, Pulmonic stenosis, Abn... ORPHA:261552
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Anemia, Narrow chest, Pectus carinatum, Scoliosis, Pectus excavatum, Osteopo... OMIM:619525
Aortic Aneurysm, Familial Thoracic 10
Dural ectasia, Scoliosis, Pectus excavatum, Disproportionate tall stature, Left ventricular hyper... OMIM:617168
Hunter-Macdonald Syndrome
Pectus carinatum, Hypertension, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve, A... OMIM:611962
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Dyspnea, Intermittent hyperventilation, Apneic ... ORPHA:348
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Short stature, Metatarsus adductus, Hypoplasia of the maxilla, Epistaxis, P... ORPHA:293939
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis, Cellulitis, Fasciitis ORPHA:3165
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... ORPHA:397973
Shukla-Vernon Syndrome
Long fingers, Tapered finger, Pectus excavatum OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 78
Kyphoscoliosis, Retrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Narrow chest, Pectu... OMIM:620237
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular fai... ORPHA:100078
Aortic Arch Interruption
Exertional dyspnea, Blood pressure substantially higher in arms than legs, Aortopulmonary window,... ORPHA:2299
Rhyns Syndrome
Nephronophthisis, Short long bone, Radial bowing, Short femoral neck, Chronic kidney disease, Bra... OMIM:602152
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Facial palsy... OMIM:166600
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Dyspnea, Respiratory distress ORPHA:142
Bacterial Toxic-Shock Syndrome
Myocarditis, Respiratory distress, Myositis, Capillary leak, Arthritis, Increased circulating mye... ORPHA:36234
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Pectus carinatum, Mandibular prognathia, Pectus excavatum, Camptodactyly, Kyphosi... ORPHA:3063
Myasthenia Gravis
Myositis, Glycosuria, Dyspnea, Acrocyanosis ORPHA:589
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Mandibular prognathia, Broad me... ORPHA:1540
Mowat-Wilson Syndrome
Pectus carinatum, Pectus excavatum, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morp... ORPHA:2152
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Apnea, Cyanosis, Limb hypertonia OMIM:619580
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Multiple suture craniosynos... ORPHA:207
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pectus carinatum, Pectus excavatum, Aortic valve stenosis, Arachnodactyly, Pulmonic stenosis, Abn... ORPHA:261537
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Persistence of primary teeth, Umbilical hernia, Patent ductus arteri... OMIM:619769
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Retinal telangiectasia, Hydrocephalus, Mandibular prognathia, Overgrowth, Hypoplasi... OMIM:620157
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Umbilical hernia, Intrauteri... ORPHA:84
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Delayed eruption of teeth, Broad clavicles, Noncompaction cardi... ORPHA:508542
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Fryns Syndrome
Rocker bottom foot, Stillbirth, Ureteral duplication, Hypospadias, Proximal placement of thumb, P... OMIM:229850
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Erythrocytosis, Familial, 1
Myocardial infarction, Exertional dyspnea, Increased red blood cell mass, Hypertension, Increased... OMIM:133100
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Relative macrocephaly, Umbilical hernia, Apneic episodes in infa... OMIM:601803
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Delayed eruption of tee... OMIM:257850
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Pectus carinatum, Pectus excavatum, Congenital hip dis... OMIM:100100
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Tapered finger, Short foot, Camptodactyly, Microcephaly, Contrac... OMIM:301044
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Cardiomyopathy, Joint hypermobility, Overlapping toe, Ventriculomegaly, Sacral d... ORPHA:480880
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Scoliosis, Pectus excava... OMIM:613658
Alveolar Echinococcosis
Abnormality of the diaphragm, Abnormal vertebral morphology, Anemia, Abnormal sternum morphology,... ORPHA:284
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Respiratory... OMIM:251000
Craniolenticulosutural Dysplasia
Narrow chest, Delayed eruption of teeth, Scoliosis, Decreased skull ossification, Short stature, ... ORPHA:50814
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal finger morphology, Abnormal toe morp... ORPHA:79500
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Respiratory distress OMIM:620166
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Tracheo... ORPHA:93259
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly OMIM:246560
Fontaine Progeroid Syndrome
Retrognathia, Death in infancy, Abnormal heart morphology, Syndactyly, Left ventricular hypertrop... OMIM:612289
Mercury Poisoning
Acute kidney injury, Dyspnea, Respiratory distress ORPHA:330021
Congenital Heart Block
Cyanosis, Patent ductus arteriosus ORPHA:60041
Fraser Syndrome 1
Subglottic stenosis, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Myelomeningoc... OMIM:219000
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Ventriculomegaly,... OMIM:302960
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Dilated cardiomyo... OMIM:614299
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Neonatal short-limb short statur... ORPHA:289
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis OMIM:150260
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Patent ductus arterios... OMIM:618280
Episodic Ataxia Type 1
Calf muscle hypertrophy, Respiratory distress ORPHA:37612
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Radial deviation of finger, Clinodactyly of the 5th finger, Hypo... OMIM:613406
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Hypoplasia of the maxilla, Camptodac... ORPHA:178303
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Glandular hypospadias, Facial palsy, Microcephaly, Hydron... ORPHA:1358
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Genu valgum, Pectus carinatum, Scoliosis, Hypertension, Pectus excav... ORPHA:394
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Exertional dyspnea, Clubbing of fingers, Acrocyanosis ORPHA:2032
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing... OMIM:101600
Charcot-Marie-Tooth Disease Type 1E
Distal lower limb muscle weakness, Peroneal muscle weakness, Hammertoe, Split hand, Hand muscle w... ORPHA:90658
Mowat-Wilson Syndrome
Delayed eruption of teeth, Pectus carinatum, Pectus excavatum, Short stature, Generalized muscle ... OMIM:235730
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Abnormal metacarpophalangeal joint morphology, Synovitis, Hepatosplenomegaly, Ab... ORPHA:85408
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Respiratory distress, Patent foramen ovale, Tachypne... ORPHA:26793
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finge... ORPHA:794
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B... OMIM:272460
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Pulmonic stenosis, Atrial s... ORPHA:3109
Ayme-Gripp Syndrome
Short nose, Delayed cranial suture closure, Mandibular prognathia, Pectus excavatum, Camptodactyl... OMIM:601088
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valve, Ventriculo... OMIM:265380
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed eruption of teeth, Mandibular prognat... ORPHA:87
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Cowden Syndrome 1
Scoliosis, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Lymphopenia OMIM:158350
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge, Hydrocephalus OMIM:618302
Harrod Syndrome
Long nose, Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kypho... ORPHA:2115
Slc35A1-Cdg
Cellulitis, Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Tricuspid Atresia
Cyanosis ORPHA:1209
Achondroplasia
Narrow greater sciatic notch, Short proximal phalanx of finger, Macrocephaly, Abnormal iliac wing... ORPHA:15
Laryngomalacia
Respiratory distress OMIM:150280
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Craniosynostosis, Scoliosis, Tapered finger, Pectus excavatum, Camptodactyly, Short f... OMIM:309590
Congenital Syphilis
Myocarditis, Periostitis, Large placenta, Osteochondrosis, Anemia, Hydrocephalus, Tibial bowing, ... ORPHA:499009
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Hypertension, Malar flattening, Umbilical hernia, Craniosyno... ORPHA:1555
Pseudoachondroplasia
Carpal bone hypoplasia, Fragmented, irregular epiphyses, Irregular epiphyses, Flared femoral meta... OMIM:177170
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Cleft anterior mitral valve leaflet, Tracheobronchomalacia, Femoral bowing, Bicuspi... OMIM:616462
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporos... OMIM:259050
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Acrocyanosis... ORPHA:416
Congenital Laryngeal Web
Short stature, Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Singleton-Merten Syndrome 1
Eruption failure, Expanded phalanges with widened medullary cavities, Aortic valve stenosis, Card... OMIM:182250
Coffin-Siris Syndrome 12
Hip subluxation, Ridged cranial sutures, Patent foramen ovale, Scoliosis, Facial palsy, Pectus ex... OMIM:619325
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Tall stature, Retrognathia, Exertional dyspnea, Cardiomegaly, Aortic regurgitati... ORPHA:91387
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hydrocephalus, Megaloblastic anemia, Atrophy of the spinal cord, Pulmonary ... ORPHA:79282
19P13.13 Microdeletion Syndrome
Short nose, Syringomyelia, Sandal gap, Pectus excavatum, Long fingers, Malar flattening, Macroglo... ORPHA:357001
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Respiratory distress, Dyspnea, Growth delay, Arachnodactyly, Micrognathia ORPHA:2707
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Stage 5 chronic kidney disease, Short long bone, Brachydactyly OMIM:613819
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Osteopetrosis, Prominent floating ribs, Anemia, Pancytopenia, Pectus excavatum, Pul... ORPHA:2785
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Biotinidase Deficiency
Respiratory distress, Organic aciduria, Limb muscle weakness, Apnea, Hyperventilation ORPHA:79241
Microlissencephaly-Micromelia Syndrome
Short nose, 11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb ORPHA:50810
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Narrow chest... ORPHA:667
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutr... ORPHA:231401
Aortic Valve Disease 2
Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao... OMIM:614823
Congenital Myopathy 17
Overlapping fingers, Narrow chest, Mandibular prognathia, Tapered finger, Pectus excavatum, Clino... OMIM:618975
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation... OMIM:218600
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Multiple pterygia, Pterygium, Pectus excavatum, Short stature, Malar flattening, Microretrognathia OMIM:177980
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow... OMIM:614091
Watson Syndrome
Short stature, Pectus carinatum, Pulmonic stenosis OMIM:193520
Lymphatic Malformation 6
Scoliosis, Pectus excavatum, Short stature, Micrognathia, Splenomegaly, Atrial septal defect OMIM:616843
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis, Dyspnea ORPHA:79126
Cardiogenic Shock
Dyspnea, Hypoxemia, Orthopnea, Oliguria, Cyanosis ORPHA:97292
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Abnormal mitral valve morphology, Pericarditis, Abnormal spi... ORPHA:3310
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductu... OMIM:241310
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Exertional dyspnea, Facial hypotonia, Left ventr... ORPHA:365
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, 11 pairs of ribs, Patent ductus arteriosus, Accessory spleen, Severe postnatal growth ret... OMIM:620005
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fanconi Anemia, Complementation Group C
Anemia, Absent radius, Pancytopenia, Reticulocytopenia, Anterior wedging of T12, Short stature, C... OMIM:227645
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic pub... OMIM:609616
Cree Mental Retardation Syndrome
Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs... OMIM:606851
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Respiratory distress ORPHA:100057
Pulmonary Alveolar Proteinosis, Acquired
Clubbing, Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly, Arachnodactyly, Umbilical hernia... OMIM:619656
Dyskeratosis Congenita
Anemia, Scoliosis, Osteoporosis, Short stature, Carious teeth, Hypoplasia of the maxilla, Coarse ... ORPHA:1775
Specc1L-Related Hypertelorism Syndrome
Short nose, Advanced eruption of teeth, Clinodactyly of the 5th finger, Patent ductus arteriosus,... ORPHA:1519
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Cutis Laxa, Autosomal Recessive, Type Iic
Kyphoscoliosis, Aortic regurgitation, Knee flexion contracture, Patent foramen ovale, Right bundl... OMIM:617402
Cowden Syndrome 5
Scoliosis, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Micrognathia OMIM:615108
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Relative macr... OMIM:616300
Pitt-Hopkins Syndrome
Hyperventilation, Short metatarsal, Microcephaly, Acrocyanosis, Abnormal pattern of respiration, ... ORPHA:2896
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Cubitus valgus, T... ORPHA:1772
Ivic Syndrome
Hypoplasia of the ulna, Pectoralis major hypoplasia, Hypoplasia of the radius, Hypoplasia of delt... OMIM:147750
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Short nose, Pectus excavatum of inferior sternum, Superior pectus carinatum, ... OMIM:601353
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Craniosynostosis, Respiratory distress, Hydrocephalus, Hypertension, Nat... OMIM:123790
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Facial hypotonia, Hydrocephalus, Scoliosis, Pectus excavatum, Pro... ORPHA:457284
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent radius, ... OMIM:263650
Esophageal Atresia
Subglottic stenosis, Abnormal vertebral morphology, Respiratory distress, Scoliosis, Laryngotrach... ORPHA:1199
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Arachnodactyly, Abnormal heart morphology, Absent thumb, Lateral ventricle dilata... ORPHA:500150
Primary Familial Polycythemia
Exertional dyspnea, Dyspnea, Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Iniencephaly
Congenital diaphragmatic hernia, Rocker bottom foot, Omphalocele, Renal agenesis, Arthrogryposis ... ORPHA:63259
Acute Lung Injury
Hypoxemia, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cowden Syndrome 6
Scoliosis, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Micrognathia OMIM:615109
Schneckenbecken Dysplasia
Metaphyseal irregularity, Stillbirth, Macrocephaly, Snail-like ilia, Short long bone, Flat acetab... OMIM:269250
Q Fever
Myocarditis, Abnormal left ventricular function, Anemia, Respiratory distress, Abnormal heart val... ORPHA:781
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Trismus, Bicuspid aortic valve, Wide nasal bridge, Delay... OMIM:616367
Branchioskeletogenital Syndrome
Craniosynostosis, Mandibular prognathia, Abnormal dentin morphology, Amelia involving the lower l... ORPHA:1299
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Cutis marmorata, Acr... OMIM:259900
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Slender long bone, Genu recurvatum, Short stature, Hypoplasia of the maxil... OMIM:613804
Goldberg-Shprintzen Syndrome
Clinodactyly of the 5th finger, Aortic regurgitation, Limb hypertonia, Hypoplasia of the maxilla,... OMIM:609460
Neurofibromatosis, Type I
Aqueductal stenosis, Rhabdomyosarcoma, Genu valgum, Hydrocephalus, Scoliosis, Hypertension, Overg... OMIM:162200
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Short nose,... OMIM:301030
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Radial deviation of finger, Pectus excavatum, Kyphosis, Micrognathia, Malar flattening, Clinodactyly OMIM:609944
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Abnormality of the elbow, Mandibular prognat... ORPHA:2673
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Facial hypotonia, Left ventricular hypertrophy, Macroglossia, Oligosacchari... ORPHA:308552
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, High-output congestive heart failure, Anemia of inadequ... ORPHA:231222
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Respiratory distres... ORPHA:79404
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Skin Creases, Congenital Symmetric Circumferential, 1
Dandy-Walker malformation, Pectus excavatum, Long fingers, Micrognathia, Short neck OMIM:156610
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Ge... OMIM:607634
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Respiratory distress ORPHA:927
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Cyanosis, Micropenis ORPHA:2326
Gorlin-Chaudhry-Moss Syndrome
Abnormal metacarpal morphology, Short stature, Umbilical hernia, Coronal craniosynostosis, Hypopl... ORPHA:2095
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Muscu... ORPHA:3003
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Mandibular prognathia, Pectus excavatum, Syndactyly, Joint hyperm... OMIM:618505
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Leukocytosis, Hypotension, Neutrophilia, Leukopenia, Tachypnea, Shock ORPHA:36238
Acrofrontofacionasal Dysostosis 1
Acetabular dysplasia, Mandibular prognathia, Short metacarpal, Pectus excavatum, Short stature, B... OMIM:201180
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormal metacarpal morphology, Hypoplasia of penis, Abno... ORPHA:3138
Cocaine Intoxication
Acute kidney injury, Hyperventilation, Hematuria, Respiratory distress, Rhabdomyolysis, Proteinur... ORPHA:90068
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Hypoplasia of the maxilla, Arachnodactyly, Umb... ORPHA:96129
Adnp Syndrome
Polydactyly, Urinary incontinence, Inguinal hernia, Sandal gap, Respiratory distress, Recurrent u... ORPHA:404448
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Choanal Atresia
Polydactyly, Cyanosis, Respiratory distress ORPHA:137914
Loeys-Dietz Syndrome
Tall stature, Joint dislocation, Pectus carinatum, Scoliosis, Cardiac arrest, Pectus excavatum, C... ORPHA:60030
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiple... OMIM:601809
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubulointerstitial ne... ORPHA:340
Meier-Gorlin Syndrome 5
Slender long bone, Elbow dislocation, Prominent metopic ridge, Short stature, Hypoplasia of the m... OMIM:613805
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Facial hypotonia, Keratan sulfate excretion in urine, Respiratory di... OMIM:615273
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Clubbing, Dyspnea, Hypoxemia, Tachypnea, Cyanosis OMIM:610913
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Ca... ORPHA:306542
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Respiratory distress, Focal segmental glomerulosclerosis, F... OMIM:614748
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Respiratory distress, Thrombocytopenia, Dilated cardiomyopathy, Neutropenia OMIM:251110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Microcephaly, Apnea, Cyanosis, Hypopnea OMIM:618426
Frontorhiny
Encephalocele, Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly o... ORPHA:391474
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Absence of the pulmonary valve, Tetralogy of Fallot OMIM:618780
Laryngotracheoesophageal Cleft
Cyanosis, Dyspnea ORPHA:2004
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Clubbing of fingers, Dyspnea, Clubbing of toes, Left ventricular hypertrophy,... ORPHA:99106
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress OMIM:160900
Japanese Encephalitis
Distal lower limb muscle weakness, Stiff neck, Hyperintensity of MRI T2 signal of the spinal cord... ORPHA:79139
Skin Creases, Congenital Symmetric Circumferential, 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Pectus excavatum, Short stature, Short palm, ... OMIM:616734
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Bradycardia, Respiratory distress, Hypotension, Leukocytosis, Leukopenia... ORPHA:319213
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Mandibular prognathia, Hypoplasia of the maxilla, Abnormal heart morphology, Umbil... OMIM:601499
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Hypertension, Abnorm... ORPHA:3027
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Respiratory distress, Elevated urine 2-methylcitric... OMIM:251100
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Tall stature, Transposition of the great arteries, Super... ORPHA:3474
Listeriosis
Myocarditis, Congestive heart failure, Stiff neck, Arteritis, Respiratory distress, Miscarriage, ... ORPHA:533
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... OMIM:601559
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Autoimmune Pulmonary Alveolar Proteinosis
Clubbing, Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Tall stature, Increased vertebral height, Scoliosis, Wide femoral metaphysis, Pectus excavatum, C... OMIM:610474
Infantile Krabbe Disease
Increased head circumference, Respiratory distress, Shoulder girdle muscle weakness, Decreased he... ORPHA:206436
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Nephrotic syndrome, Urticaria, Membranous nephropathy, Tubulointe... ORPHA:37042
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Short finger, Tapered finger, Acrocyanosis ORPHA:1867
Neuroblastoma
Anemia, Respiratory distress, Hypertension, Thrombocytopenia, Pathologic fracture, Spinal cord co... ORPHA:635
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Hyperventilation, Multiple glomerular cysts, Ragged-red muscle ... ORPHA:255210
Floating-Harbor Syndrome
Kyphoscoliosis, Long nose, Mesocardia, Dislocated radial head, Short metacarpal, Clinodactyly, Sh... ORPHA:2044
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Camurati-Engelmann Disease
Delayed puberty, Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Scoli... OMIM:131300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Anemia, Death in infancy, Short stature, Joint stiffness, Flexion... ORPHA:847
Congenital Tracheal Stenosis
Abnormality of the kidney, Respiratory distress, Dyspnea, Abnormality of the ureter, Patent ductu... ORPHA:141127
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Cervical C2/C3 vertebral fusion, Delayed eruption of te... OMIM:211380
Lead Poisoning
Delayed puberty, Cranial hyperostosis, Abnormal T cell morphology, Anemia, Delayed eruption of te... ORPHA:330015
Sotos Syndrome
Tall stature, Pectus excavatum, Kyphosis, Abnormal heart morphology, Umbilical hernia, Joint hype... ORPHA:821
Crouzon Syndrome
Lambdoidal craniosynostosis, Hydrocephalus, Mandibular prognathia, Coronal craniosynostosis, Hypo... OMIM:123500
Pulmonary Capillary Hemangiomatosis
Exertional dyspnea, Clubbing of fingers, Dyspnea, Hypoxemia, Cyanosis ORPHA:199241
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Intrauterine growth retardation, Ventriculomegaly... OMIM:256520
Oculopharyngodistal Myopathy 1
Respiratory distress, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG:... OMIM:164310
Marshall Syndrome
Short nose, Genu valgum, Hypoplastic frontal sinuses, Short stature, Hypoplasia of the maxilla, M... ORPHA:560
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Disproportionate tall stature, Joint hyperm... OMIM:162300
Vater/Vacterl Association
Occipital encephalocele, Abnormal sternum morphology, Syndactyly, Absent radius, Intrauterine gro... OMIM:192350
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, Femoral bowing, Short long bone, Tibial bowing, Bowing of the l... ORPHA:140
Yunis-Varon Syndrome
Absent sternal ossification, Flat acetabular roof, Cardiomyopathy, Kyphosis, Decreased skull ossi... OMIM:216340
Meconium Aspiration Syndrome
Pulmonary insufficiency, Respiratory distress, Pulmonary arterial hypertension, Abnormal heart ra... ORPHA:70588
Brain-Lung-Thyroid Syndrome
Hypospadias, Respiratory distress, Vesicoureteral reflux, Microcephaly, Megacystis ORPHA:209905
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Pectus excavatum OMIM:244200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Glomerular sclerosis, Acrocyanosis OMIM:223900
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Broad long... ORPHA:79255
Toxic Epidermal Necrolysis
Respiratory distress, Dysuria, Renal insufficiency, Erythema, Abnormality of the urethra ORPHA:537
Nipah Virus Disease
Respiratory distress ORPHA:99825
Holoprosencephaly 9
Agenesis of incisor, Short nose, Alobar holoprosencephaly, Hydrocephalus, Wide anterior fontanel,... OMIM:610829
Recurrent Respiratory Papillomatosis
Tachypnea, Dyspnea, Respiratory distress ORPHA:60032
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Weakness of facial musculature, Knee flexion contracture OMIM:617239
Treacher-Collins Syndrome
Retrognathia, Encephalocele, Abnormality of the vertebral column, Abnormality of bone mineral den... ORPHA:861
Goodpasture Syndrome
Exertional dyspnea, Glomerular crescent formation, Renal insufficiency, Proteinuria, Macroscopic ... OMIM:233450
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Opsismodysplasia
Macrocephaly, Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Short long bo... OMIM:258480
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Microcephaly, Respiratory distress, Facial hypotonia ORPHA:438216
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Respiratory distress, Mandibular condyle hypoplasia, ... ORPHA:137888
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short long bone, Hypoplastic ilia, Hypo... ORPHA:1865
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Tachypnea, Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610978
Familial Nasal Acilia
Dyspnea, Respiratory distress ORPHA:922
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Short long bone, Hydronephrosis, Patent ductus arteriosus after premat... OMIM:620454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Progressive microcephaly, Microcephaly, Prolonged neonatal jaundice, Acrocyan... OMIM:225750
Gitelman Syndrome
Urinary incontinence, Chondrocalcinosis, Renal tubular acidosis, Renal potassium wasting, Respira... ORPHA:358
Ramos-Arroyo Syndrome
Respiratory distress, Carious teeth, Severe short stature, Patent ductus arteriosus, Atrial septa... ORPHA:1051
Saethre-Chotzen Syndrome
Long nose, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, ... OMIM:101400
Neuroocular Syndrome
Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Tibial torsion, Genu recurvatum, Hyp... OMIM:619539
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Renal cyst ORPHA:137675
Ciliary Dyskinesia, Primary, 2
Sinusitis, Situs inversus totalis, Dextrocardia, Respiratory distress OMIM:606763
Tuberous Sclerosis Complex
Generalized abnormality of skin, Abnormality of the kidney, Respiratory distress, Polycystic kidn... ORPHA:805
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis, Right ventricular hypertrophy ORPHA:555874
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Dyspnea, Orthopnea, Patent ductus arteriosus, Cyanosis, Hypoca... ORPHA:980
Pulmonary Arteriovenous Malformation
Clubbing, Dyspnea, Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Dyspnea, Respiratory distress ORPHA:411703
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Respiratory distress, Death in infancy, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxypheny... OMIM:617156
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Abnormal spinal cord morphology, Distal amyotrophy ORPHA:139578
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Joint stiffness, ... ORPHA:245
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Patent foramen ovale, Double inle... OMIM:619702
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Pectus excavatum, Lymphopen... ORPHA:935
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress ORPHA:98805
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Pectus excavatum, Limb hypertonia ORPHA:488613
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Tall stature, Bone cyst, Scoliosis, Overgrowth, Pectus excavatum, Abnormal heart morphology, Join... OMIM:613675
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Sandal gap, Short hallux, Craniosynostosis, Tapered finger, Camptodacty... OMIM:608156
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Ellis-Van Creveld Syndrome
Epispadias, Genu valgum, Hypospadias, Hypoplastic iliac wing, Ectodermal dysplasia, Short long bo... OMIM:225500
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
X-Linked Intellectual Disability, Porteous Type
Short stature, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Bilateral Perisylvian Polymicrogyria
Limb hypertonia, Abnormality of masticatory muscle, Facial diplegia, Pectus excavatum, Micrognath... ORPHA:98889
Oromandibular Dystonia
Torticollis, Respiratory distress ORPHA:93958
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Left ventricular systolic dysfunction, Hypophosphatemic rick... ORPHA:51608
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Fla... OMIM:250420
Cowden Syndrome
Bone cyst, Scoliosis, Pectus excavatum, Kyphosis, Short stature, Brachydactyly, Mucosal telangiec... ORPHA:201
Atypical Werner Syndrome
Delayed puberty, Rocker bottom foot, Reduced bone mineral density, Calf muscle hypertrophy, Hyper... ORPHA:79474
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Congestive heart failure, Spinal arteriovenous malformation, Abnormality of the v... ORPHA:53721
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Wide nasal bridge OMIM:167730
Atelosteogenesis Type I
Abnormal fibula morphology, Short long bone, Multiple renal cysts, Brachydactyly, Abnormal ossifi... ORPHA:1190
You-Hoover-Fong Syndrome
Kyphoscoliosis, Clinodactyly, Pectus excavatum, Brachydactyly OMIM:616954
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Tricuspid regurgitation, Clinodactyly of the 5th finger, Microretrogna... ORPHA:228396
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Recurrent sin... OMIM:618849
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Renal insufficiency, Acrocyanosis ORPHA:1764
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Hemothorax, Osteolytic defects of the phalanges o... OMIM:130050
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Colchicine Poisoning
Oliguria, Renal insufficiency, Respiratory distress ORPHA:31824
Traboulsi Syndrome
Short finger, Retrognathia, Cubitus valgus, Pectus excavatum, Arachnodactyly, Broad hallux, Malar... OMIM:601552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Flared metaphysis, Short long bone, Metaphyseal spurs, Short metaca... ORPHA:85167
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis, Camptodactyly, Abnormal spinal cord morphology, Flexion contracture of finge... ORPHA:88628
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Apnea, Cyanosis OMIM:620423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Macrocephaly, Enuresis, Brachydactyly, Cyanosis, Central hypoventilation ORPHA:293987
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Intrauterine growth retardation, Ne... OMIM:620501
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Jaundice, Respiratory distress, Corneal scarring, Hepatocellular necrosis, Prolonged neonatal jau... OMIM:256810
Intellectual Developmental Disorder, Autosomal Dominant 42
Limited elbow extension, Limb hypertonia, Pectus excavatum, Growth delay, Joint hypermobility, Ad... OMIM:616973
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal irregularity, Short 4th metacarpal, Genu valgum, Bowed humerus, Metaphyseal cupping, ... OMIM:618019
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Anemia, Respiratory distress OMIM:617300
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Thymoma
Aplastic anemia, Myositis, Dyspnea, Rheumatoid arthritis, Pure red cell aplasia, Imbalanced hemog... ORPHA:99867
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Osteolysis ORPHA:494
Diaphragmatic Hernia 4, With Cardiovascular Defects
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Aplasia of t... OMIM:620025
Angelman Syndrome
Hypoplasia of the maxilla, Scoliosis, Macroglossia, Mandibular prognathia OMIM:105830
Nasolacrimal Duct Cyst
Cellulitis, Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Prematurely aged appearance, Incisional hernia, Atrophic scars, Acrocyanosis, Di... ORPHA:287
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
N-Acetylglutamate Synthase Deficiency
Tachypnea, Respiratory distress OMIM:237310
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
2-3 toe syndactyly, Hypoplasia of the maxilla, Patent ductus arteriosus, Ventricular septal defec... OMIM:106260
Gaisböck Syndrome
Increased hematocrit, Elevated diastolic blood pressure, Elevated plasma cell count, Increased re... ORPHA:90041
Aicardi-Goutières Syndrome
Lipoatrophy, Panniculitis, Myositis, Microcephaly, Prolonged neonatal jaundice, Cutis marmorata, ... ORPHA:51
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Congenital Total Pulmonary Venous Return Anomaly
Exertional dyspnea, Cardiomegaly, Apneic episodes in infancy, Mixed total anomalous pulmonary ven... ORPHA:99125
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplica... OMIM:236680
Fibromuscular Dysplasia, Multifocal
Shoulder subluxation, Joint subluxation, Scoliosis, Pectus excavatum, Micrognathia, Malar flatten... OMIM:619329
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Clinodactyly of the 5th finger, Abnormality of cartilage of ... ORPHA:2399
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Mandibular prognathia, Ventricular septal defect OMIM:619103
Congenital Tracheomalacia
Intercostal retractions, Dyspnea, Apnea, Patent ductus arteriosus, Cyanosis ORPHA:95430
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Trident pelvis, ... OMIM:619479
Alternating Hemiplegia Of Childhood
Facial hypotonia, Respiratory distress, Cardiomyopathy, Cardiac conduction abnormality, Apnea, Ar... ORPHA:2131
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Mitral val... OMIM:203500
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Pelvic kidney, Nasal flaring, Short palm, Brachydactyly ORPHA:466943
Cryptococcosis
Respiratory distress, Hydrocephalus, Dyspnea, Limb muscle weakness, Osteolysis, Lymphoid leukemia... ORPHA:1546
Leptospirosis
Acute kidney injury, Jaundice, Respiratory distress, Cellular urinary casts, Rhabdomyolysis ORPHA:509
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Patent ductus arteriosus, Hydrocephalus, Branchial anomaly,... OMIM:164210
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Short stature, Carious teeth, Hypoplasia of the maxilla, Enamel hyp... OMIM:129400
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Lipodystrophy, Acrocyanosis, Plethora ORPHA:2905
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Abnormal heart valve morphology, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:286
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Short long bone, Hyperechogenic kidneys, Proteinuria, Moderate protein... OMIM:301110
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Microphthalmia, Syndromic 1
Kyphoscoliosis, Radial deviation of finger, Narrow chest, Short clavicles, Scoliosis, Prominent f... OMIM:309800
Postinfectious Vasculitis
Palpable purpura, Hematuria, Vasculitis in the skin, Cutis marmorata, Proteinuria, Acrocyanosis, ... ORPHA:48435
Digeorge Syndrome
Anemia, Patent ductus arteriosus, Intervertebral disk degeneration, Scoliosis, Truncus arteriosus... OMIM:188400
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Death in childhood OMIM:301108
Clapo Syndrome
Macrodactyly, Tall stature, Narrow chest, Overgrowth, Pectus excavatum ORPHA:168984
Sponastrime Dysplasia
Short long bone, Relative macrocephaly, Metaphyseal irregularity, Flattened humeral epiphyses, Hi... ORPHA:93357
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99104
Craniosynostosis And Dental Anomalies
Supernumerary tooth, Syringomyelia, Lambdoidal craniosynostosis, Dental malocclusion, Delayed eru... OMIM:614188
Unilateral Polymicrogyria
Microcephaly, Apnea, Cyanosis ORPHA:268943
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Respiratory distress ORPHA:2309
Lymphangiectasia, Pulmonary, Congenital
Mild postnatal growth retardation, Wide nasal bridge, Pectus excavatum, Malar flattening OMIM:265300
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Acrocyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, Genital hern... ORPHA:285
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Exertional dyspnea, Premature skin wrinkling, Short clavicles, P... ORPHA:740
Hereditary Angioedema Type 1
Urticaria, Dyspnea, Dermatographic urticaria, Respiratory distress ORPHA:100050
Kasabach-Merritt Phenomenon
Anemia, Respiratory distress, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hem... ORPHA:2330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Generalized abnormality of skin, Acute kidney injury, Renal tubular epithelial necrosis, Hematuri... ORPHA:95455
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Lip telangiectasia, Miscarria... OMIM:187300
Axenfeld-Rieger Syndrome
Growth delay, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:782
Amoebiasis Due To Free-Living Amoebae
Stiff neck, Increased red blood cell count, Facial palsy, Myocardial necrosis, Sinusitis, Abnorma... ORPHA:68
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o... ORPHA:199306
Double Outlet Left Ventricle
Tachypnea, Cyanosis, Patent ductus arteriosus ORPHA:3427
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Short finger, Cone-shaped epiphyses of the phalanges of the hand, M... OMIM:250220
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Pectus excavatum OMIM:251750
Pmm2-Cdg
Kyphoscoliosis, Osteopenia, Retrognathia, Respiratory distress, Angina pectoris, Dandy-Walker mal... ORPHA:79318
Dermatomyositis
Facial erythema, Erythema, V-sign, Inflammatory myopathy, Myositis, Cutaneous photosensitivity, E... ORPHA:221
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
X-Linked Cerebral Adrenoleukodystrophy
Facial myokymia, Hamstring contractures, Abnormal spinal cord morphology, Ankle clonus, Myelopathy ORPHA:139396
Primary Sjögren Syndrome
Normocytic anemia, Arteritis, Normochromic anemia, Myositis, Vasculitis, Arthritis, Polyarticular... ORPHA:289390
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Short nose, Respiratory distress, Taurodontia OMIM:305100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea, Patent ductus arteriosus ORPHA:99050
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Superficial Siderosis
Enlarged sylvian cistern, Atrophy of the spinal cord, Internal hemorrhage, Back pain, Abnormal sp... ORPHA:247245
Ablepharon Macrostomia Syndrome
Growth delay, Camptodactyly of finger, Hypoplasia of the maxilla, Umbilical hernia, Toe syndactyl... ORPHA:920
Nocardiosis
Respiratory distress, Abnormal heart valve morphology, Dyspnea, Pericarditis, Endocarditis, Osteo... ORPHA:31204
Branchiooculofacial Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Proximal placement of thumb, Branch... OMIM:113620
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Isolated Arrhinia
Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage, Aplasia of the... ORPHA:1134
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Adrenomyeloneuropathy
Distal lower limb muscle weakness, Dorsal column degeneration, Atrophy of the spinal cord, Leg mu... ORPHA:139399
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Plague
Hematemesis, Abnormality of the elbow, Respiratory distress, Arthritis, Hypotension, Splenomegaly... ORPHA:707
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel... OMIM:610655
Barber-Say Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of t... OMIM:209885
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Pelvic girdle muscle atrophy ORPHA:3044
Alström Syndrome
Short finger, Congestive heart failure, Respiratory distress, Abnormality of dental color, Hypert... ORPHA:64
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Split hand, Ectrodactyly, Split foot, Carious teeth, Hypoplasia of the maxill... OMIM:604292
Waardenburg Syndrome, Type 2E
Pectus excavatum OMIM:611584
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Split hand, Split foot, Carious teeth, Hand polydactyly, Hypoplasia ... OMIM:129900
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Malar flattening OMIM:122880
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Micrognathia, Aprosencephaly OMIM:601374
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Finger aplasia OMIM:207770
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500

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 Fgfrl1

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 Fgfrl1.

No publications found that use IMPC mice or data for Fgfrl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fgfrl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fgfrl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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