banner
Genes Phenotypes Help, News, Blog

Gene: Fgfrl1 MGI:2150920

Log in to follow
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
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Micrognathia, Wide... ORPHA:3098
Catel-Manzke Syndrome
Short stature, Camptodactyly of finger, Ventricular septal defect, Joint stiffness, Micrognathia,... ORPHA:1388
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased... OMIM:613630
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, 11 pairs of ribs, Short stature, Sandal gap, Paroxysmal supraventricular tachycardia,... OMIM:617877
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Microcephaly, Respiratory insufficienc... ORPHA:1166
Rhizomelic Syndrome
Rhizomelia, Short stature, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontane... OMIM:268250
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co... OMIM:602535
Acrocallosal Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Wide anterior fontanel, Postaxial ... ORPHA:36
Eng-Strom Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, A... ORPHA:1937
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Postnatal growth retardation, Pectus excavatum, Patent d... OMIM:179613
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Rocker bottom foot, Short neck, Muscular ventricular septal defect, Wide... OMIM:618804
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... OMIM:201000
Turnpenny-Fry Syndrome
Mandibular prognathia, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow ch... OMIM:618371
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
3C Syndrome
Short neck, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial septal defec... ORPHA:7
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris... OMIM:305620
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Short stature, Carious teeth, Pectus excavatum, Hydrocep... ORPHA:2701
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Ab... ORPHA:3319
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... ORPHA:508498
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Proximal placement of thumb, Clinodactyly of the 5th to... OMIM:620113
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Microcephaly, Wide anterior fontanel, Metaphyseal w... OMIM:263210
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Wide anterior fontanel, Umbilical her... OMIM:222448
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Hemivertebrae, ... OMIM:220210
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Short stature, Short neck, Postnatal growth retardation, Micrognathia, Hydrocep... OMIM:257300
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen o... OMIM:618870
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Patent ductus arteriosus, Anemia, Perimembranous ventricular septal... OMIM:608104
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Congenital diaphragmatic hernia, Microcephaly, Retinal telangiectasia... ORPHA:438134
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Thoracic hypoplasia, Congestive heart failure, De... OMIM:619751
Snijders Blok-Campeau Syndrome
Joint laxity, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Scoliosis... OMIM:618205
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly... OMIM:249670
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... OMIM:609029
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... OMIM:311900
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Postaxial polydactyly... ORPHA:2886
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypopla... OMIM:608149
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bri... ORPHA:166024
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgn... ORPHA:96170
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... ORPHA:559
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Wide anterior fontanel, Macrocephaly, ... ORPHA:2143
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ... OMIM:312870
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de... OMIM:300855
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Short stature, Camptodactyly of finger, Pectus excavatu... ORPHA:376
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Femoral... OMIM:620076
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Tapered finger, Perimembranous vent... OMIM:301040
Lethal Congenital Contracture Syndrome 1
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... OMIM:253310
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Overlapping fingers, Short stature, Ventricular septal defect, Craniosynostosis... OMIM:301056
Scarf Syndrome
Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus cari... ORPHA:3134
Frontometaphyseal Dysplasia
Metaphyseal widening, Short metatarsal, Wrist flexion contracture, Short phalanx of finger, Dislo... ORPHA:1826
Anauxetic Dysplasia 3
Short metacarpal, Severe short stature, Brachydactyly, Thoracolumbar kyphoscoliosis, Metaphyseal ... OMIM:618853
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Micromeli... OMIM:122470
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... OMIM:615290
Scarf Syndrome
Barrel-shaped chest, Diastasis recti, Short neck, Wide nasal bridge, Abnormal form of the vertebr... OMIM:312830
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... OMIM:273750
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, M... ORPHA:2522
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Pectus excavatum, Flexion contracture, Respiratory insufficiency, F... OMIM:609284
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Shor... ORPHA:166272
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Rubinstein-Taybi Syndrome 1
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic i... OMIM:180849
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral dens... OMIM:615279
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis OMIM:302000
Noonan Syndrome 12
11 pairs of ribs, Ventriculomegaly, Ventricular septal defect, Proximal placement of thumb, Pectu... OMIM:618624
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping fingers, Triangular shaped phalang... OMIM:618167
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Ureteral stenosis, Abnormal hemidiaphragm morphology, Ap... ORPHA:2257
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... OMIM:269150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Abnormal bone ossification, Clinodactyly of the 5th fi... ORPHA:79324
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, Broad h... ORPHA:435638
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Micropenis, Broad thumb, Brachydactyly OMIM:300978
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... ORPHA:98913
Sotos Syndrome
Joint laxity, Mandibular prognathia, Ventriculomegaly, Ventricular septal defect, Muscular ventri... OMIM:117550
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta... OMIM:278250
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide ... OMIM:619149
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Genu recurv... OMIM:609008
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Short stature, Ventricular septal defect, Short neck, Pectu... OMIM:610733
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Death in infancy, Overlapping fingers, Short stature, Short neck, Secund... OMIM:608779
Momo Syndrome
Delayed eruption of teeth, Short stature, Short neck, Dental malocclusion, Femoral bowing, Taurod... ORPHA:2563
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... OMIM:212780
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Ovoid vertebral bodies, Abnormal femoral neck mo... ORPHA:63446
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Emphysema ORPHA:171719
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Hallux valgus, Scapular winging, Sacral dimple, Short stature, Camptodacty... ORPHA:1327
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Neonatal respiratory distress, ... OMIM:194080
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Pectus excavatum, Muscular ventricular septal defect, Retrognathia, Fused cervical... OMIM:619227
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Overlapping toe, Carious teeth, Long nose, Muscular ventricular septal defec... ORPHA:363444
3Mc Syndrome 2
Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscl... OMIM:265050
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Aspiration, ... OMIM:618651
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis OMIM:263000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Long toe, Short stature, Arachnodactyly, Kyphoscoliosis, Fle... ORPHA:75496
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Congenital dia... ORPHA:1001
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Disproportionate short stature, Small hand, Mitral valve prolaps... ORPHA:2868
Toriello-Carey Syndrome
Neonatal respiratory distress, Dandy-Walker malformation, Short stature, Ventriculomegaly, Short ... ORPHA:3338
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly, Myopathy, Ethylmalonic aciduria, Increased level of methylsuc... ORPHA:26792
Chromosome 9P Deletion Syndrome
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Short neck, Micrognathia, Tapered ... OMIM:158170
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, Cl... OMIM:619745
Zaki Syndrome
Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Microcephaly, Long fingers, Pate... OMIM:619648
15Q24 Microdeletion Syndrome
Hypospadias, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphol... ORPHA:94065
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Alg9-Cdg
Omphalocele, Hypoplasia of the bladder, Torticollis, Lipodystrophy, Ureteral hypoplasia, Hypoplas... ORPHA:79328
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calc... OMIM:271665
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contractur... OMIM:620369
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Birk-Aharoni Syndrome
Macrocytic anemia, Muscular ventricular septal defect, Micrognathia OMIM:620071
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmati... ORPHA:2311
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Respiratory insuffici... ORPHA:238329
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate short stature, Join... OMIM:277600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Short neck, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, ... ORPHA:96334
Frontoocular Syndrome
Micrognathia, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Coronal craniosynostosis OMIM:605321
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Microcephal... OMIM:254940
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly ORPHA:370079
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Cervical cord compression, Atrial septal... ORPHA:79345
Noonan Syndrome 11
Short stature, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... OMIM:618499
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... ORPHA:2370
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation OMIM:614100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Short stature, Rocker bottom foot, Micrognathia, Pericardial effusion, Carious ... OMIM:620070
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Severe short stature, Hyperlordosis, Abnormal thumb morphol... ORPHA:2511
Noonan Syndrome 8
Atrial septal defect, Short stature, Ventricular septal defect, Short neck, Patent ductus arterio... OMIM:615355
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Short stature, Myelomeningocele, Pulmonic stenosis, Scoliosis, Facial telangiectas... OMIM:620141
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Sprengel Deformity
Abnormal shoulder morphology, Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulde... ORPHA:3181
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Micrognathia, Mitral val... ORPHA:228410
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature, Microcephaly ORPHA:85323
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Sandal gap, Congenital diaphragmatic hernia, Microcephaly OMIM:300887
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Koolen-De Vries Syndrome
Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Vertebral fusion, Prominen... OMIM:610443
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis, Anemia OMIM:617408
Non-Distal Duplication 10Q
Short stature, Micrognathia, Pectus excavatum, Joint hyperflexibility, Scoliosis, Short nose ORPHA:1695
Momo Syndrome
Delayed eruption of teeth, Short neck, Dental malocclusion, Wide nasal bridge, Taurodontia, Short... OMIM:157980
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia,... ORPHA:1832
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... ORPHA:666
Myopathy, Myofibrillar, 8
Scapular winging, Tall stature, Reduced vital capacity, Centrally nucleated skeletal muscle fiber... OMIM:617258
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... OMIM:608728
Noonan Syndrome 7
Short stature, Short neck, Pectus excavatum, Pectus carinatum, Growth delay, Shield chest, Pulmon... OMIM:613706
Trisomy 1Q
Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finge... ORPHA:261344
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal deat... OMIM:620351
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Short thumb, Limitation of joint mobility, Mitral regur... ORPHA:3449
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Noonan Syndrome 2
Short stature, Mitral stenosis, Ventricular septal defect, Short neck, Micrognathia, Cubitus valg... OMIM:605275
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Reduced bone ... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Reduced bone ... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Reduced bone ... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Reduced bone ... ORPHA:881
Takenouchi-Kosaki Syndrome
Ventriculomegaly, Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, T... OMIM:616737
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Short stature, Short neck, Pectus excavatum, Wide nasal bridge,... OMIM:613224
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lum... OMIM:608328
Legius Syndrome
Pectus excavatum, Micrognathia, Short neck, Supravalvar pulmonary stenosis OMIM:611431
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis ORPHA:276630
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Short neck, Prominent metopic ridge, Osteoporosis... ORPHA:488632
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Hypoplasia of the musculature, Ankle flexion contrac... ORPHA:2020
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticul... ORPHA:95706
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Micro... OMIM:114290
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Genu recurv... ORPHA:915
Shprintzen-Goldberg Syndrome
Osteopenia, Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Abnormal... ORPHA:2462
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Postaxial foot polyd... OMIM:258850
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia... ORPHA:139466
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Pectus carinatum, Atrioventricular canal defect, Spin... ORPHA:500
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Mucolipidosis Ii Alpha/Beta
Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar k... OMIM:252500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Se... OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bod... OMIM:619451
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th... OMIM:601163
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectu... OMIM:259440
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscle atrophy, ... ORPHA:2463
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Short neck, Micrognathia, Vertebral fusion, Tethere... OMIM:130720
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Shwachman-Diamond Syndrome 1
Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph... OMIM:260400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Muscular ventricular septal defect, Adducted thumb, Notched primary central inciso... OMIM:620062
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Micrognathia, Pectus excavatum, Wide anterior fontanel, Kyphosis, Overgrowth, Umbi... OMIM:618272
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Prominent metopic ridge, Short stature, Overlapping toe... OMIM:619148
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, U... ORPHA:2437
Noonan Syndrome 5
Mandibular prognathia, Short stature, Short neck, Abnormal sternum morphology, Pulmonic stenosis,... OMIM:611553
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... OMIM:611816
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Mosaic Trisomy 1
Long toe, Broad toe, Omphalocele, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodacty... ORPHA:1692
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Postaxi... ORPHA:2075
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Later... OMIM:618914
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter... ORPHA:1834
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Spondylocostal Dysostosis 4, Autosomal Recessive
Short neck, Reduced forced vital capacity, Reduced forced expiratory volume in one second, Hemive... OMIM:613686
Cardiofaciocutaneous Syndrome 4
Joint laxity, Short stature, Pectus excavatum, Ventricular septal hypertrophy, Abnormal aortic va... OMIM:615280
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Microcephaly, Muscular dystrophy, Macrocephaly, Met... ORPHA:899
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... OMIM:249420
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Glo... ORPHA:2260
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Short stature, Pectus excavatum, Wide nasal bridge, Growth delay, Short palm, Intrauterine growth... ORPHA:73273
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Atrial septal defect, Prominen... OMIM:135900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Hypospadias, Microcephaly OMIM:300934
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Tetrasomy 5P
Respiratory distress, Overlapping toe, Short hallux, Short neck, Postnatal growth retardation, Wi... ORPHA:3309
Coffin-Siris Syndrome 6
Wormian bones, Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, Atrial septal defec... OMIM:617808
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly, Bladder diverticu... OMIM:219100
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... ORPHA:230851
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... ORPHA:1120
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... ORPHA:1842
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Facial palsy, Micrognathia, Respiratory insufficiency due to... OMIM:300580
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Ventriculomegaly, Facial hypotonia, Broad hallux, Micrognathia, Tapered finger, Lo... OMIM:618659
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Multicystic kidney dysplasia, Abnorma... ORPHA:2092
Camptodactyly Syndrome, Guadalajara Type 2
Short stature, Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral ... ORPHA:1326
Brachyolmia, Maroteaux Type
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... ORPHA:93302
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, Le... OMIM:617303
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Micrognathia, Recurrent pneumonia, Spinal canal stenosis, Bronchiect... OMIM:618282
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short stature, Short neck, Micrognathia, Spl... OMIM:115150
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... OMIM:256050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Short stature, Enlarged joints, Bowing of the legs, Pectus excavatum, Dispr... ORPHA:156728
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Pectus... OMIM:218040
Braddock Syndrome
Congenital muscular torticollis, Neonatal respiratory distress, Short stature, Short neck, Microg... ORPHA:52047
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Joint contracture, Hypoplasia of the musculature, Microcephaly OMIM:225790
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... ORPHA:2752
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Secondary microcephaly OMIM:610992
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic her... OMIM:613309
Costello Syndrome
Short stature, Ventricular septal defect, Abnormal dental enamel morphology, Short neck, Mitral v... ORPHA:3071
Noonan Syndrome 10
Atrial septal defect, Short stature, Ventricular septal defect, Short neck, Pectus excavatum, Pat... OMIM:616564
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... OMIM:157800
Intellectual Disability-Strabismus Syndrome
Hypospadias, Rocker bottom foot, Congenital diaphragmatic hernia, Microcephaly, Achilles tendon c... ORPHA:363528
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... ORPHA:2912
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chronic pu... ORPHA:2414
Peters-Plus Syndrome
Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxilla, Proximal placement o... OMIM:261540
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Ara... ORPHA:2461
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Truncus arteriosus, Congenital diaphragmatic hernia, Ventric... OMIM:601186
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Ventricular septal defect, Short stature, Broad hallux, Sandal gap, Secundum at... OMIM:600987
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... ORPHA:192
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p... ORPHA:235
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Martsolf Syndrome 1
Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathi... OMIM:212720
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Short stature, Arachnodactyly, Limited wrist extension, Reduced forced exp... OMIM:108145
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Hydrocephalus... ORPHA:272
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Pectus excavatu... ORPHA:776
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Microcephaly, Small hand, 2-3 toe syndactyly, Um... ORPHA:284180
Dominant Beta-Thalassemia
Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Genu valgum ORPHA:231226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Neutropeni... OMIM:612541
Typical Nemaline Myopathy
Short neck, Micrognathia, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type 1 ... ORPHA:171436
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Lumbar hyperlordosis, Wide... OMIM:616482
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Atelis Syndrome 2
Sacral dimple, Micrognathia, Kyphosis, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonary s... OMIM:620185
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... ORPHA:98863
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Micr... OMIM:612561
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ... OMIM:616733
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge... ORPHA:314679
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Joint laxity, Arachnodactyly, Patent ductu... ORPHA:284984
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Neutropenia, Clinodactyly of the 5th finger, Finger synd... ORPHA:193
Neurofibromatosis-Noonan Syndrome
Abnormal thorax morphology, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis ORPHA:638
Diaphanospondylodysostosis
Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bon... ORPHA:66637
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... OMIM:119600
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Respiratory i... ORPHA:90103
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... OMIM:616294
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st... ORPHA:97360
Distal Deletion 10Q
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Prominent fingertip pads, Clinodact... ORPHA:96148
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Long clavicles, ... ORPHA:83617
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... OMIM:617137
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Joint stiffness, Tapered finger, Splenomegal... ORPHA:2746
Usmani-Riazuddin Syndrome, Autosomal Recessive
Joint laxity, Pectus excavatum, Lumbar scoliosis OMIM:619548
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic mi... ORPHA:66634
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Schisis Association
Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Microcephaly ORPHA:63862
Leopard Syndrome 1
Mandibular prognathia, Bundle branch block, Scapular winging, Short stature, Limited elbow moveme... OMIM:151100
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal placement of thumb, Respirator... ORPHA:1488
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Bicuspid aortic valve, Short stature, Limited elbow movement, Ventricular septal ... OMIM:610759
Vacterl/Vater Association
Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, R... ORPHA:887
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Micrognathia, Short neck, Patent ductus arteriosus after bir... ORPHA:529962
Coffin-Siris Syndrome 3
Inguinal hernia, Microcephaly, Central diaphragmatic hernia, Short distal phalanx of the 5th fing... OMIM:614608
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges o... ORPHA:2990
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Congenital diaphragmatic hernia, Proximal placement of thumb, ... ORPHA:251071
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Distal Duplication 15Q
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Short ... ORPHA:1707
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Short stature, Patent du... OMIM:602782
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Irregular f... OMIM:108300
Weill-Marchesani Syndrome 3
Short stature, Joint stiffness, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly OMIM:614819
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Pectu... ORPHA:163654
Spinocerebellar Ataxia, Autosomal Recessive 31
Pectus excavatum, Growth delay, Lumbar kyphoscoliosis, Death in childhood, Clinodactyly of the 5t... OMIM:619422
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Sprengel anomaly... ORPHA:800
Tyshchenko Syndrome
Ventricular septal defect, Short stature, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atri... OMIM:615102
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, De... OMIM:306955
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Decreased hip abduction, Short stature, Camptodactyly of finger, Lumbar hy... OMIM:114300
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Mcdonough Syndrome
Mandibular prognathia, Short stature, Micrognathia, Pectus excavatum, Kyphosis, Aplasia/Hypoplasi... ORPHA:2471
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Sandal gap, Micrognathia, Tapered finger, Kyphosis, ... OMIM:617061
Craniofaciofrontodigital Syndrome
Osteopenia, Respiratory distress, Bicuspid aortic valve, Cardiomegaly, Pectus carinatum, Finger j... ORPHA:363705
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Short stature, Micrognathia, Pectus excavatum, Ulnar deviation of finger... ORPHA:2013
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Pulmonic stenosis, Hy... OMIM:613312
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Ventriculomegaly OMIM:618354
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Micrognathia, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes, W... ORPHA:3304
Fragile X Syndrome
Joint laxity, Mandibular prognathia, Pectus excavatum, Mitral valve prolapse, Scoliosis, Metacarp... OMIM:300624
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Arachnodactyly, Cariou... OMIM:617602
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria, Progressive microcephaly OMIM:614741
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... OMIM:614080
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Congenital diaphragmatic hernia, Horseshoe kidney ORPHA:2470
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... OMIM:616817
Beta-Thalassemia Major
Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Genu valgum ORPHA:231214
Chromosome 10Q26 Deletion Syndrome
Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Short stature, Congenital hip d... OMIM:609625
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Atrial septal defect, Short stature, Ventricular septal defect,... OMIM:609942
Cardiofaciocutaneous Syndrome
Short stature, Abnormal heart valve morphology, Abnormal morphology of ulna, Short neck, Pectus e... ORPHA:1340
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized aminoacidu... OMIM:231680
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pectus carinatum, Abnormal sternum morphology, Overgrowth, P... ORPHA:137634
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Hand polydactyly, Congenital diaphragmatic hernia, Macrocephaly ORPHA:261197
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly ORPHA:171703
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint laxity, Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidit... OMIM:617066
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Short ... ORPHA:3404
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Down-sloping shoulders, Proportionate short stature, Short neck, Kyphoscoliosis, Mi... ORPHA:391408
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c... ORPHA:363958
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral... ORPHA:175
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Clin... OMIM:300373
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd ... OMIM:156510
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, ... OMIM:300219
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Pectus excavatum, L... OMIM:618316
Acrocraniofacial Dysostosis
Short stature, Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Pectus excavatum, Abno... ORPHA:949
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Atrial septal defect, Pro... OMIM:612474
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, Abnormal sternum morphology, Atrial s... OMIM:163950
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Ventricular septal defect, Rocker bottom foot, Malar flattening, Short n... OMIM:612582
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Abnormal clavicle morphology, Micr... ORPHA:763
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag... OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Short stature, Short metacarpal, Micr... OMIM:216550
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, W... ORPHA:261295
Dysostosis, Stanescu Type
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Abnormal dent... ORPHA:1798
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Short stature, Pectus excavatum, Patent ductus arteriosus, Lateral ven... OMIM:618330
Kabuki Syndrome 2
Joint laxity, Natal tooth, Prominent fingertip pads, Short stature, Micrognathia, Postnatal growt... OMIM:300867
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... OMIM:616914
Intellectual Developmental Disorder, Autosomal Dominant 43
Tapered finger, Wide nasal bridge, Hip dysplasia, Pulmonic stenosis, Umbilical hernia OMIM:616977
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... OMIM:617641
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Apn... OMIM:619503
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, Distal joint laxity, Ge... ORPHA:1900
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triph... OMIM:105650
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Short neck, Hyperl... ORPHA:2789
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Microcephaly, 2-3 toe cutaneous sy... OMIM:618454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Hydrocephalus, Flexion contracture, Dila... OMIM:253800
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Pulmonic stenosis, Camptodactyly, Cl... OMIM:619123
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Microcephaly OMIM:617977
Alpha-Mannosidosis, Infantile Form
Osteopenia, Communicating hydrocephalus, Mandibular prognathia, Thickened ribs, Short neck, Pectu... ORPHA:309282
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebr... OMIM:618223
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, Proportionate tall stature, Atrial septal def... ORPHA:363700
Hamamy Syndrome
Osteopenia, Prolonged QRS complex, Microcytic anemia, Micrognathia, Clinodactyly of the 5th finge... OMIM:611174
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... ORPHA:454836
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pectus excavatum, Slender finger, Patent ductus... ORPHA:329224
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyp... ORPHA:505248
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus... ORPHA:2970
Monosomy 18Q
Mandibular prognathia, Left-to-right shunt, Short stature, Absence of the pulmonary valve, Kyphos... ORPHA:1600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rig... ORPHA:486815
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Split hand, Micropenis, Congenital fibrosis of e... OMIM:157900
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... OMIM:265000
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Rocker bottom foot, Wide nasal bridge, Atrial septal def... ORPHA:89844
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Severe short stature, Joint stiffness, Abnormal t... ORPHA:3242
Christianson Syndrome
Mandibular prognathia, Death in early adulthood, Decreased muscle mass, Pectus excavatum, Abnorma... ORPHA:85278
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Pectus carinatum, N... OMIM:300676
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... ORPHA:1507
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... OMIM:150250
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Short stature, Ventricular septal defect, Craniosynostosis, Short neck, ... OMIM:617506
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Increased... OMIM:619334
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Joint hyperflexibi... ORPHA:261243
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Degcags Syndrome
Osteopenia, Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmatic... OMIM:619488
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Ventricular septal defect, Sandal gap, Micrognathia, Pectus ... OMIM:270450
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... OMIM:613390
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Arachnodactyly, Kyphoscoliosis, Myocardial infarction, Pectus excavatum, Limitation... OMIM:236200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Progressive microcephaly ORPHA:71277
Monosomy 18P
Short stature, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Pectus excavatum, Wide na... ORPHA:1598
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Congenital diaphrag... OMIM:200980
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platysp... ORPHA:90653
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Pect... OMIM:617336
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Short stature, Tapered finger, Pectus excavatum, Cubitus valgus, Malar flattening ORPHA:85280
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Joint... OMIM:305400
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
X-Linked Mandibulofacial Dysostosis
Short stature, Micrognathia, Pectus excavatum, Branchial anomaly, Hypoplasia of the zygomatic bon... ORPHA:1131
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Conical incisor, Cutaneous finger syndactyly, Short palm, Hypo... OMIM:235510
Branchial Arch Syndrome, X-Linked
Short stature, Pulmonic stenosis OMIM:301950
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Rhizomel... OMIM:611209
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, Pectus car... OMIM:121050
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
Galloway-Mowat Syndrome 7
Hallux valgus, Ventricular septal defect, Short stature, Kyphoscoliosis, Micrognathia, Arachnodac... OMIM:618348
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... ORPHA:750
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava... ORPHA:555877
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polyd... OMIM:617102
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Ventriculomegaly, Facial hypotonia, Broad hallux, Postaxial polydactyly,... OMIM:616362
Intellectual Developmental Disorder, Autosomal Dominant 45
Arachnodactyly, Heart murmur, Scoliosis, Pulmonic stenosis, Slender build OMIM:617600
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Microcephaly ORPHA:2409
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Pectus excavatum, Kyphosis, Wide nasal bridge, Cervical ribs ORPHA:77300
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Koolen-De Vries Syndrome
Vertebral fusion, Bicuspid aortic valve, Short stature, Abnormal dental enamel morphology, Arachn... ORPHA:96169
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Short stature, Spina bifida, Pec... ORPHA:3219
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle ... OMIM:224690
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Brachydactyly, Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kypho... OMIM:617425
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Ventriculomegaly, Overlapping toe, Flexion contracture, Short nose, Wide na... OMIM:619383
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co... OMIM:154400
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Facial palsy, Central hypove... ORPHA:171881
Jansen-De Vries Syndrome
Short foot, Central diaphragmatic hernia, Small hand, Brachydactyly OMIM:617450
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... OMIM:618155
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, Splenomegaly, Patent d... OMIM:608799
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoxem... ORPHA:2847
Pentalogy Of Cantrell
Omphalocele, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Abnormal tibia morphol... ORPHA:1335
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, Pectus excavatum, Mitral valve prolapse, Disproportionate... OMIM:157700
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Long thorax, Narrow c... OMIM:616268
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Enlarged sylvian cistern, Short stature, Short neck, Secundum atrial sep... OMIM:615802
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Short stature, Hyperextensibility of ... OMIM:130000
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Short stature, Pectus excavatum, Hip dislocatio... OMIM:219150
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Prominent metopic... ORPHA:2215
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Cervical cord compression, Atr... ORPHA:353281
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S... OMIM:166250
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Sandal gap, Pectus exc... OMIM:612530
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Pectus excavatum, Wide nasal b... OMIM:607131
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Mitr... OMIM:301039
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Pectus excavatum, Small hand, Wide nasal bridge, Pectus carinatum, Broad fi... OMIM:614684
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Short stature, Scoliosis ORPHA:85273
Double Outlet Right Ventricle
Tachycardia, Short stature, Ventricular septal defect, Abnormality of cartilage of external ear, ... ORPHA:3426
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Hypoplasia of the maxilla, Cubitus valgus, Genu valgum, Slender long b... OMIM:608154
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Ventricular septal defect, Proportionate short stature, Sho... OMIM:609654
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Short stature, Portal... OMIM:613385
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Pectus excavatum, Long fingers, Pectus carinatum, Clinodactyly of the 5th finger OMIM:609425
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Abno... ORPHA:457395
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Hemivertebrae, Abnormal rib morpholo... ORPHA:2759
Distal Monosomy 7Q36
Short stature, Micrognathia, Short neck, Pectus excavatum, Symphalangism affecting the phalanges ... ORPHA:1636
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Micrognathia, Progressive intervertebral space narrowing... ORPHA:1716
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Sandal gap, Progeroid fac... OMIM:613177
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmona... OMIM:619433
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Pectus excavatum ORPHA:3270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... OMIM:213980
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Abnormal femur morphology, Abnormal fibula morp... ORPHA:2063
Coffin-Siris Syndrome 4
Short stature, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Wide nasal br... OMIM:614609
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... OMIM:613795
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co... ORPHA:353277
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Allan-Herndon-Dudley Syndrome
Hallux valgus, Pectus excavatum, Flexion contracture, Generalized amyotrophy, Scoliosis OMIM:300523
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification... OMIM:259410
Femoral-Facial Syndrome
Ventriculomegaly, Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal ... ORPHA:1988
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Sudden episodic apnea, Cyanosis, Microcephaly, Rhabdomyolysis, Oliguria, R... ORPHA:159
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion contracture, Camptodactyly, ... OMIM:619694
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Microcephaly, Death in childhood OMIM:615597
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Abnormal fo... ORPHA:904
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Vesicour... ORPHA:2059
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Prominent fingertip pads, Respiratory distress, Tricuspid regurgita... OMIM:612863
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Aminoaciduria, Proximal tubulopathy OMIM:612075
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Short s... ORPHA:2962
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly, Retrognathia OMIM:619092
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Urogenital sinus anomaly OMIM:618901
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Mitral valve ... ORPHA:90354
Loeys-Dietz Syndrome 5
Decreased muscle mass, Osteoarthritis, Pectus carinatum, Bilateral coxa valga, Atrial septal defe... OMIM:615582
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... ORPHA:373
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Short neck, Microcytic anemia, Micrognathia, Short toe, Flexion contracture, Wide ... ORPHA:98791
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Prominent metopic ridge, Ventriculomegaly, Sandal gap, Camptodactyly of fin... ORPHA:261349
Cranioectodermal Dysplasia 4
Short stature, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Decreased nasal ... OMIM:614378
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Boudin-Mortier Syndrome
Joint laxity, Mallet finger, Long toe, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip... OMIM:619543
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspon... OMIM:601216
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... OMIM:220110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... OMIM:615349
Mucolipidosis Iii Gamma
Aortic regurgitation, Short stature, Hyperlordosis, Short neck, Joint stiffness, Kyphosis, Flat c... OMIM:252605
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification... OMIM:271640
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Acrootoocular Syndrome
Delayed eruption of teeth, Small hypothenar eminence, Short metacarpal, Short stature, Abnormal f... ORPHA:2980
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Short stature, Sagittal craniosynostosis, Pectu... OMIM:618027
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Long nose, T lymphocytopeni... ORPHA:508533
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... OMIM:614753
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split hand, Wide ... OMIM:618569
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Microc... OMIM:615919
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Hand muscle weakness, Q... ORPHA:99947
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Pectus excavatum, Double outlet right ventricle, Single ventricle of... OMIM:620294
Trisomy X
Pectus excavatum, Joint hyperflexibility, Hip dysplasia, Clinodactyly of the 5th finger, Tall sta... ORPHA:3375
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper u... ORPHA:3380
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, In... OMIM:241500
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Osteoarthritis, Pectus carinatum, Abnormal metacarpal morphology,... ORPHA:166100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Hypoventilation, Short stature, Bicuspid aortic valve, Ventricular sept... ORPHA:438213
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Pulmonary arterial hypertension, Right ve... OMIM:616028
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Pectus excavatum ORPHA:1375
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polyd... OMIM:617895
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Ectopic kidney, Foot polydactyly, Short palm, Tracheomalacia ORPHA:268249
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus excavatum, Osteo... OMIM:619131
Monosomy 9Q22.3
Delayed eruption of teeth, Ventriculomegaly, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyph... ORPHA:77301
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Feingold Syndrome Type 1
Toe syndactyly, Short stature, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd ... ORPHA:391641
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Bowing of the long bones, Pectus e... OMIM:612940
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ventriculomegaly, Apnea, Thoracic hypoplasia, Cardiomegaly, Micrognathia, S... OMIM:608013
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Ventricular septal defect, Short stature, Thoracolumbar kyphos... OMIM:212066
Van Maldergem Syndrome 1
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy... OMIM:601390
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... ORPHA:2614
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Ulnar deviation of finge... ORPHA:1101
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... OMIM:139210
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broa... ORPHA:798
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Arachnodactyly, Pectus excavatum, Dural ectasia, Mitral valve prolapse, Pect... OMIM:616166
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognat... ORPHA:536545
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Hypospadias, Microcephaly, Pulmon... OMIM:619272
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Micropenis, Bruising susceptibility,... ORPHA:335
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ... OMIM:252100
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped cos... OMIM:187601
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... OMIM:600001
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Short neck, Atrial septal defect, Dysplastic ... OMIM:601808
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Neonatal respiratory distress, Small ab... OMIM:187600
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Short stature, Carious teeth, Pectus excavatum, Small hand,... ORPHA:1786
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavatum,... OMIM:618162
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Overlapping toe, Diastasis recti, Postnatal growth retardation, Large pla... ORPHA:254528
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Aortic regurgitation, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, ... OMIM:225320
Mullegama-Klein-Martinez Syndrome
Short stature, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Wide nasal bridge, Hy... OMIM:301022
Pseudoaminopterin Syndrome
Limited elbow movement, Micrognathia, Asplenia, Patchy reduction of bone mineral density, Patent ... ORPHA:221120
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... ORPHA:1452
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:1647
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Mic... OMIM:245600
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Jacobsen Syndrome
Ventricular septal defect, Short neck, Micrognathia, Pectus excavatum, Hydrocephalus, Flexion con... OMIM:147791
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Death in childhood, Patent foramen ovale, Tricuspi... OMIM:619127
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae, Atrial septal defect, S... ORPHA:96121
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Overlapping toe, Short neck, Pectus excavatum, Wide nasal bridg... OMIM:618571
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Arachnodactyly, Kyphoscoliosis, Postnatal growth retardation, Metatarsus adductus,... OMIM:612513
Monosomy 13Q34
Epistaxis, Micrognathia, Postaxial hand polydactyly, Growth delay, Postaxial foot polydactyly, He... ORPHA:96168
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Tethered cord, Mitral atresia, Clinodactyly, Patent ductus arterio... OMIM:618164
Cat Eye Syndrome
Short stature, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, ... OMIM:115470
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Micrognathia, Equinus calcaneus, F... OMIM:154700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Toe syndactyly, Short stature, Ventricular septal defect, Dextrocardia, Aspl... OMIM:619657
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Abnormal rib morphology... ORPHA:2097
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... OMIM:610967
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Respiratory distress, Ven... ORPHA:79329
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Short neck, Micrognathia, Long fingers, Pectus excavatum... ORPHA:96092
Arterial Tortuosity Syndrome
Joint laxity, Ventricular hypertrophy, Aortic regurgitation, Arachnodactyly, Congenital diaphragm... OMIM:208050
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat... ORPHA:536532
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Ventriculomegaly, Tapered finger, Hypoplasia of the maxilla, Long finger... OMIM:218000
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Abnormality o... ORPHA:429
16P11.2P12.2 Microduplication Syndrome
Pectus excavatum ORPHA:261204
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia,... ORPHA:508488
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short lo... OMIM:618845
Congenital Myasthenic Syndrome
Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory... ORPHA:98914
Chromosome 15Q25 Deletion Syndrome
Long fingers, Inguinal hernia, Dilatation of renal calices, Congenital diaphragmatic hernia OMIM:614294
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Facial palsy, Rec... ORPHA:53
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Tracheomalacia, Micro... ORPHA:2745
Noonan Syndrome 9
Ventricular septal defect, Short stature, Pulmonic stenosis, Short neck OMIM:616559
Fetal Alcohol Syndrome
Biparietal narrowing, Congenital diaphragmatic hernia, Microcephaly ORPHA:1915
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent... OMIM:313850
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basa... OMIM:136760
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Situs inversus totalis, Femoral bowing, Hypertrophic cardiomyopathy, Stillbirth, Aortic... OMIM:615415
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Hypospadia... OMIM:304110
Seckel Syndrome 9
Asthma, Recurrent urinary tract infections, Congenital diaphragmatic hernia, Microcephaly OMIM:616777
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Short femur, Respiratory distress,... OMIM:618188
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal defect, Contracture of the proxi... OMIM:300166
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... OMIM:108721
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Thrombocytosis, Short stature, Increased mean platelet volume, Ventricular ... OMIM:222470
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... ORPHA:2322
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Ring Chromosome 10 Syndrome
Sandal gap, Tapered finger, Micrognathia, Short neck, Pectus excavatum, Wide nasal bridge, Intrau... ORPHA:1438
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Microgna... OMIM:616200
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C... OMIM:619343
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Short stature, Pectus excavatum, Malar flattening, Spina bifida occulta, A... OMIM:268850
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Chronic ... OMIM:619825
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... ORPHA:94068
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Respiratory insufficiency, Nephrocalcinosis, Short long bone, Brachydactyly OMIM:615633
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Cubitus valgus, Pectus excavatum, Hydrocephalus, Patent d... OMIM:104350
Hallermann-Streiff Syndrome
Micrognathia, Metaphyseal widening, Spina bifida, Hyperlordosis, Supernumerary tooth, Scoliosis, ... OMIM:234100
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Pectus excavatum, Patent ductus arteriosus, Osteoporosis, Ank... OMIM:615398
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Congenital diaphragmatic hernia, Aplastic clavicle, Preaxial polydactyly, ... OMIM:616546
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Dental malocclusion, Wide nasal bridge, Reduced bone minera... ORPHA:3079
Thakker-Donnai Syndrome
Hydronephrosis, Congenital diaphragmatic hernia ORPHA:1780
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Respir... ORPHA:98915
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... OMIM:607323
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, 2-3 toe... OMIM:600920
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly,... OMIM:309520
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Microcephaly, 2-3 toe... ORPHA:1596
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Micrognathia, Pectus carinatum, Emph... ORPHA:558
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrot... ORPHA:488627
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... OMIM:615546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Respiratory distress, Sacral dimple, Ventriculomegaly, Short stature, Postaxial pol... OMIM:300968
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Toe syndactyly, Short stature, Bicuspid aortic valve, Craniosynostosis, Valvular pu... OMIM:300707
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia OMIM:611812
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Atrial septal ... OMIM:274000
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Biparietal nar... ORPHA:818
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature, Postaxial polydactyly, Splenomegaly, Supernumerary tooth, Po... OMIM:617088
White-Sutton Syndrome
Duplicated collecting system, Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Pa... OMIM:616364
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Short... ORPHA:950
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Patent ductus arteriosus,... ORPHA:52055
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... ORPHA:544503
Pyruvate Dehydrogenase Deficiency
Pectus excavatum, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Wi... ORPHA:765
Cranioectodermal Dysplasia 2
Short neck, Micrognathia, Narrow chest, Atrial septal defect, Patent foramen ovale, Joint laxity,... OMIM:613610
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... ORPHA:217085
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Aortic regurgitation, Short stature, Ventricular septal defect, Shor... OMIM:607721
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Antegonial notching of man... OMIM:170390
Stt3B-Cdg
Respiratory distress, Micropenis, Microcephaly ORPHA:370924
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Neonatal ... OMIM:250250
C Syndrome
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Congenital diaphragm... ORPHA:1308
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Wide anterior fontanel, Patent... OMIM:606003
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis, Absent thumb OMIM:619239
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... OMIM:265120
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morpho... ORPHA:83468
Hereditary Methemoglobinemia
Microcephaly, Cyanosis, Exertional dyspnea ORPHA:621
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, M... OMIM:618733
Bohring-Opitz Syndrome
Joint dislocation, Apnea, Cardiomegaly, Micrognathia, Congenital contracture, Dandy-Walker malfor... ORPHA:97297
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... ORPHA:99646
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... ORPHA:217093
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Short stature, Micrognathia, Pectus excavatum, Birth length less than 3rd percenti... OMIM:614104
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor... OMIM:613673
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... OMIM:305600
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Short stature, Pectus excavatum, Kypho... ORPHA:3042
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Short stature,... OMIM:607014
Atelosteogenesis, Type I
Laryngeal stenosis, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... OMIM:611588
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Ventriculomegaly, Micrognathia, Long fingers, Pulmonic stenosis, Camptodactyly, Retrognathia, Sle... OMIM:618343
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Pectus carinatum, Abnormal sternum... OMIM:610168
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Death in infancy, Short statu... OMIM:259775
Peters Plus Syndrome
Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Clinodactyly of the 5th finger, S... ORPHA:709
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Tall statu... OMIM:309583
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Spin... ORPHA:93346
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature, Thoracolumbar scoliosis, Short neck, Pectus excavatum, ... OMIM:300472
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Patent ductus arteriosu... OMIM:607143
Pagod Syndrome
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ren... ORPHA:991
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... ORPHA:37553
Macs Syndrome
Joint laxity, Short stature, Micrognathia, Pectus excavatum, Osteoporosis, Wide nasal bridge, Bro... OMIM:613075
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Lacticaciduria OMIM:615595
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... ORPHA:580
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Thoracic scoliosis, Shield chest, Short neck OMIM:616994
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Ventriculomegaly, Micromelia, Patent ductus arteriosus, Disproportionate short stature, Wide nasa... ORPHA:2637
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... OMIM:271225
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Respiratory distress ORPHA:289916
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Aortic regurgitation, Thickened aortic valve cusp, Spatulate ribs, H... OMIM:619698
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Holoprosencephaly, ... OMIM:214800
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Micrognathia, Dental malocclusion, Temporomandibular joint ankylosis... OMIM:614669
Keutel Syndrome
Sinusitis, Ventricular septal defect, Calcification of the auricular cartilage, Miscarriage, Shor... OMIM:245150
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Clinodactyly of the 5th finger, Atrial se... OMIM:194050
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... ORPHA:93473
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Neu-Laxova Syndrome
Skeletal muscle atrophy, Microcephaly, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasi... ORPHA:2671
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, ... ORPHA:60025
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the verteb... ORPHA:93262
Carnitine Deficiency, Systemic Primary
Respiratory distress, Myopathy, Dicarboxylic aciduria, Reduced muscle carnitine level OMIM:212140
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Kyphosis, Tapere... ORPHA:476126
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Pectus excavatum, Patent ductus... ORPHA:96167
Au-Kline Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Craniosynostosi... OMIM:616580
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Intrauterine growth retardation, Short stature, Osteoporosis, Abn... ORPHA:97685
Malan Overgrowth Syndrome
Ventriculomegaly, Pectus excavatum, Slender long bone, Lateral ventricle dilatation, Scoliosis, T... ORPHA:420179
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal ... ORPHA:93352
3Q29 Microdeletion Syndrome
Tapered finger, Pectus excavatum, Patent ductus arteriosus, Subvalvular aortic stenosis, Pectus c... ORPHA:65286
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... OMIM:620099
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Pectus excavatum, Flexion contracture, An... ORPHA:59
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Death in infancy, Cyanosis, Hypospadias,... OMIM:252010
Legius Syndrome
Short stature, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Di... ORPHA:137605
Catel-Manzke Syndrome
Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Jo... OMIM:616145
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Cya... ORPHA:391428
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Bicuspid aortic valve, Short neck,... OMIM:613563
Geleophysic Dysplasia 1
Osteopenia, Short stature, Camptodactyly of finger, Tricuspid stenosis, Joint stiffness, Coxa val... OMIM:231050
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Qazi-Markouizos Syndrome
Torticollis, Tapered finger, Pectus excavatum, Hypoplasia of teeth, Delayed ossification of carpa... ORPHA:3010
Isolated Atp Synthase Deficiency
Respiratory distress, 3-Methylglutaconic aciduria, Renal hypoplasia, Microcephaly ORPHA:254913
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Broad hallux, Micrognathia, Short neck, Tapered finger, Short thumb, Pectus excavatu... OMIM:620224
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia ORPHA:79312
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Disproportionate short stature, Flexion cont... OMIM:222765
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Transposition ... OMIM:619910
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... OMIM:244460
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Abnormality... OMIM:109120
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Micromelia, Micrognathia, Short neck, Dyspnea, Abnorm... ORPHA:3015
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Joint stiffness, Pectus excavatum, Deviation of finger, Congenital finger flexion... ORPHA:1154
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis, Apnea, Cyanosis OMIM:261680
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Arachnodactyly, Kyphosis, Hydrocephalus, Joint hyperflexibility, Shoulder d... ORPHA:2181
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Primary microcephaly... ORPHA:284417
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Long toe, Sh... ORPHA:3455
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Short stature, Thrombocyt... ORPHA:333
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Pectus excavatum, Long nose, Hydrocephalus, Right bundle branch block, Slender long b... OMIM:618590
Mogs-Cdg
Respiratory distress, Atrial septal defect, Thoracic scoliosis, Hypoventilation, Apnea, Cardiomeg... ORPHA:79330
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short stature, Short neck, Secundum atrial septal defect, C... OMIM:601321
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of th... OMIM:242900
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Cough, Abn... ORPHA:464329
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Pectu... ORPHA:464311
Meacham Syndrome
Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Horseshoe kidney,... OMIM:608978
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Respiratory... OMIM:620278
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Multiple joint contractures, Short stature, Ventricular sept... ORPHA:464306
20Q11.2 Microduplication Syndrome
Sacral dimple, Prominent metopic ridge, Pectus excavatum, Wide nasal bridge, Pectus carinatum, Gr... ORPHA:363659
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic... ORPHA:31826
Fumarase Deficiency
Perimembranous ventricular septal defect, Polycythemia, Ventriculomegaly OMIM:606812
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Overlapping toe, Short neck, Micrognathia, Carious teeth, Pa... ORPHA:177907
Holoprosencephaly
Omphalocele, Hypoplasia of penis, Proteinuria, Congenital diaphragmatic hernia, Microcephaly, Res... ORPHA:2162
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Atrial septal... OMIM:614261
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory insufficie... ORPHA:1461
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Horseshoe kidney,... ORPHA:3097
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Generalized joint laxity, Atrial septal defect, Joint laxity, Microretrognathi... OMIM:601776
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... ORPHA:2255
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Congenital hip dislo... ORPHA:496641
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the tar... ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Mandibular prognathia, Brachydactyly, Facial hypotonia, Short statu... OMIM:300534
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency... ORPHA:93315
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Clin... ORPHA:1724
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stif... ORPHA:2588
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Aymé-Gripp Syndrome
Inguinal hernia, Proteinuria, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger... ORPHA:1272
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Oliguria, Abnormal re... ORPHA:90051
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Microcephaly, Long fingers, Joint contracture of the 5th finger, Clinodactyly of ... OMIM:614407
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteri... ORPHA:2519
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Osteomyeli... OMIM:259700
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Congenital diaphragmatic hernia, Hypoplasia of the abdominal w... OMIM:267000
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tricuspid regurgitation, Short stature, Tethered cord, Delayed closure of the ante... OMIM:618460
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Prominent fingertip pads, Advanced eruption of teeth, Clinodactyly of the 5th fing... OMIM:615873
Noonan Syndrome
Short stature, Abnormal pulmonary valve morphology, Micrognathia, Pectus excavatum, Abnormality o... ORPHA:648
Trisomy 13
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Patent ductus arteriosus, Abnorm... ORPHA:3378
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... ORPHA:93311
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Short palm, ... OMIM:269860
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Micrognathia, Pectus excavatum, Generalized joint laxity, Increased variability in... ORPHA:502423
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Myositis, Renal insufficiency, Proteinuria, Cutis marmorata, Sinusitis, Asthma, R... ORPHA:183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Skeletal muscle atrophy, Short femur, Hypospadias, Apnea, Mi... ORPHA:17
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Micrognathia, Pectus excavatum, Patent ductus arteriosus, Upper lim... ORPHA:369837
White-Sutton Syndrome
Duplicated collecting system, Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaph... ORPHA:468678
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Acropectorovertebral Dysplasia
Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Spina bifida, Pectus excavatum, Tr... ORPHA:957
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Metatarsus valgus, Pectus exca... ORPHA:261236
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... OMIM:266920
Beckwith-Wiedemann Syndrome
Omphalocele, Ureteral duplication, Otosclerosis, Inguinal hernia, Diastasis recti, Rhabdomyosarco... ORPHA:116
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles, Cyanosis OMIM:619793
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Microretrognathia, Sacral dimple, Ventriculomegaly, Short neck, Postnatal growth reta... OMIM:300966
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Short stature, Rocker bottom foot, Metatarsus adductus, Pe... OMIM:272950
Autosomal Dominant Robinow Syndrome
Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ... ORPHA:3107
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae OMIM:602473
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Micrognathia, Short neck, Pectus excavatum, Wide nasal bridge, Shortening ... ORPHA:247262
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Tela... ORPHA:576
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Atrial septal defect, Tapered finger, Shor... OMIM:613458
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thu... ORPHA:124
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Ventriculomegaly, Cardiac arrest, Myofiber disarray, Myop... OMIM:604377
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Micrognathia, Recurrent pn... ORPHA:314655
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Short stature, Proximal placement of thumb, Micr... OMIM:610536
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Severe short stature, Thoracic hypoplasia, Mic... OMIM:224410
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Death in infancy... OMIM:615512
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Pitt-Hopkins-Like Syndrome 2
Scoliosis, Pulmonic stenosis, Hyperventilation OMIM:614325
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Ventricular septal defect, Overlapping toe, Pectus excavatum, Splenomegaly, Patent ... OMIM:618268
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Micrognathia, Trismus, Congestive heart failure, Flexion contra... OMIM:616271
Diets-Jongmans Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Hip dysplasia, Umbilical hernia OMIM:618846
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Short fourth metatarsal, Micrognathia, Patent... OMIM:619841
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Prominent fingertip pads, Postnatal growth retardation, Hyp... ORPHA:251061
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Short stature, Cervical kypho... ORPHA:401923
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Cyanosis, Overlapping toe, Microcephaly, Renal cyst OMIM:617478
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Respiratory insufficiency, Reduced bone min... ORPHA:848
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Postaxial hand polydactyly... OMIM:619879
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Congenital diaphragmatic hern... ORPHA:280
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Alagille Syndrome 2
Long nose, Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot OMIM:610205
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Anterior concavity of thoracic vertebrae, Micrognathia, Persistence of hemoglobin ... OMIM:617101
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... OMIM:208530
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Chordee, Micropenis OMIM:309801
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Diastasis recti, Micrognathia, Pectus excavatum, Wide anterior fontanel, Scoliosis, Ventriculomegaly OMIM:618548
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Waardenburg Syndrome Type 3
Camptodactyly of finger, Microcephaly, Abnormal finger morphology, Cutaneous finger syndactyly, T... ORPHA:896
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Flexion contracture, Short finger OMIM:312150
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Vertebral compression fracture, An... OMIM:230800
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Microcephaly OMIM:150260
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Micrognathia, Dental malocclusion, Contractures of the large jo... ORPHA:329178
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Leukocytosis, Anemia, Cough, Pleural effusion, Thro... ORPHA:3392
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:614300
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Hypospadias, Abnormal dental enamel morphology, ... ORPHA:2556
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Arachnodactyly, Broad hallux, Hypoplasia of the... ORPHA:481152
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Short palm, Cl... ORPHA:85279
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Atrial septal defect, Short statur... OMIM:617140
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Short stature, Angina pectoris, Micrognathia, Pectus excavatum, Telangie... ORPHA:109
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short stature, Tapered finger, Supernumerary tooth, Scoliosis, Aortic valve stenosis, Retrognathi... ORPHA:268261
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Pectus excavatum, Skeletal muscle atrophy, Ventriculomegaly OMIM:618603
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Pectus ex... OMIM:618278
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Short s... ORPHA:2834
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus a... ORPHA:210122
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Short stature, Micrognathia, Pectus excavatum, Growth delay, Distal amyotr... OMIM:617675
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho... OMIM:614008
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Respiratory distress, Pulmonary embolism, Intracranial he... ORPHA:3260
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... ORPHA:198
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Ventri... ORPHA:2072
Succinic Acidemia
Respiratory distress OMIM:600335
Cornelia De Lange Syndrome
Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplasia, Abnormal morphology of ulna, P... ORPHA:199
Carpenter Syndrome 2
Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Cutaneou... OMIM:614976
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Increased bone mineral density, Short stature, Facial... OMIM:259720
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Prolonged neonatal jaundi... OMIM:274150
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short t... OMIM:218330
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... OMIM:303600
Chitayat Syndrome
Hallux valgus, Respiratory distress, Short stature, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Congenital Enterovirus Infection
Respiratory distress, Ventriculomegaly, Abnormal macrophage morphology, Pericardial effusion, Myo... ORPHA:292
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias OMIM:250790
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Neutrophilia, Osteomyelitis, Splenomegaly, Periostitis, Osteoly... OMIM:612852
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion, Enlarged kidney OMIM:261740
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Congenital Heart Block
Pleural effusion, Patent ductus arteriosus, Cyanosis, Crackles ORPHA:60041
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... ORPHA:1529
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Hypoplastic pelvis, Congenital diaphragmatic hernia OMIM:273395
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint... OMIM:619122
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Wide nasal bridge, Micrognathia ORPHA:261304
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Camptodactyly of finger, Craniosynostosis, Micrognath... ORPHA:2554
Xq12-Q13.3 Duplication Syndrome
Short stature, Pectus excavatum, 2-3 toe syndactyly, Cutaneous finger syndactyly, Generalized amy... ORPHA:314389
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Ventriculomegaly, Wide nasal bridge, Dysplastic pulmonary valve, Scoliosis OMIM:300958
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Short finger OMIM:253290
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac... ORPHA:97214
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho... ORPHA:811
Diamond-Blackfan Anemia 21
Hallux valgus, Aortic regurgitation, Short stature, Sandal gap, Micrognathia, Secundum atrial sep... OMIM:620072
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, At... ORPHA:371428
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Fem... ORPHA:321
Hurler-Scheie Syndrome
Aortic regurgitation, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffn... OMIM:607015
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Pelvic... OMIM:304150
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Breath-Holding Spells
Cyanosis OMIM:607578
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Mandibular prognathia, Mild postnatal growth retardation, Bicuspid aortic valve, Myoc... OMIM:150230
Scimitar Syndrome
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing... ORPHA:185
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... OMIM:166200
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal... OMIM:601812
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Posterior rib fusion, Neon... OMIM:265380
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... OMIM:144750
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic si... ORPHA:137914
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger ORPHA:2776
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Short tibia, Limb hypertonia OMIM:620306
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re... OMIM:263750
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... ORPHA:367
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Eosinophilia, Pneumonia, Cough, Abnormality of... ORPHA:228123
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Asplenia, Situs inversus totalis, Upper airway obstruction, P... OMIM:612776
Fucosidosis
Decreased muscle mass, Lipoatrophy, Mucopolysacchariduria, Acrocyanosis, Vascular skin abnormality ORPHA:349
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Spinal cord compre... OMIM:307800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Short neck, Micrognathia, Complete atrioventricular canal def... OMIM:617925
Proximal Xq28 Duplication Syndrome
Pectus excavatum, Short stature, Joint stiffness ORPHA:1762
Galloway-Mowat Syndrome 3
Short stature, Arachnodactyly, Micrognathia, Pectus excavatum, Hip dislocation, Hypertension, Cam... OMIM:617729
Cardiospondylocarpofacial Syndrome
Brachydactyly, Severe short stature, Abnormal form of the vertebral bodies, Mitral valve prolapse... ORPHA:3238
Holocarboxylase Synthetase Deficiency
Respiratory distress, Organic aciduria, Tachypnea ORPHA:79242
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury ORPHA:330021
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Pectus excavatum, Abnormal 5th f... ORPHA:1439
Distal Xq28 Microduplication Syndrome
Short stature, Epistaxis, Hypoplasia of the maxilla, Metatarsus adductus, Patent ductus arteriosu... ORPHA:293939
Ethylmalonic Encephalopathy
Acrocyanosis, Ethylmalonic aciduria, Petechiae ORPHA:51188
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus add... OMIM:227330
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Pectus excavatum, Mitral valve prolapse, Malar flattening, Enamel hypoplasia, Addu... OMIM:618874
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Short stature, Pectus excavatum, Kyphosis, Asymmetry ... ORPHA:1969
Viss Syndrome
Epidural hemorrhage, Micrognathia, Generalized joint laxity, Pectus carinatum, Right ventricular ... OMIM:619472
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malo... OMIM:269500
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Broad distal phalanx of the toes,... OMIM:619194
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Inspiratory stridor OMIM:207950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Cough, Atrial septal defect, Intrauterine growth retardat... OMIM:620005
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hy... OMIM:100300
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Pectus excavatum, Asthma, Narrow chest, Clinodactyly of the 5t... OMIM:620237
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Hyperphosphaturia, Metaphyseal chondrodysplasia, Hyper... OMIM:156400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Portal hypertension, Pec... OMIM:613658
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Atrial septal defect... OMIM:275210
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short stature, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Short nose ORPHA:2835
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Short stature, Micrognathia, Hypoplasia of the ma... OMIM:613803
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Respiratory insufficiency, ... ORPHA:207
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pectus excavatum, Short stature, Craniosynostosis ORPHA:314575
Tetanus
Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr... ORPHA:3299
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Long clavicles, Pectus excavatum, Patent ductus arteriosus, Limitation o... OMIM:259100
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of th... ORPHA:1788
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the... OMIM:615630
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor... OMIM:252600
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... OMIM:612289
Agnathia-Otocephaly Complex
Respiratory distress, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Holopr... OMIM:202650
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent pneu... OMIM:619769
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pectus excavatum OMIM:245349
Keipert Syndrome
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... ORPHA:2662
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Short stature, Tapered finger, Postnat... ORPHA:319182
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Hydrocephalus, Abnormal fibula m... ORPHA:1812
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal ... ORPHA:79113
D-Bifunctional Protein Deficiency
Osteopenia, Decreased muscle mass, Ventriculomegaly, Thoracic hypoplasia, Micrognathia, Pectus ex... OMIM:261515
Bacterial Toxic-Shock Syndrome
Respiratory distress, Recurrent urinary tract infections, Renal insufficiency, Myositis, Glomerul... ORPHA:36234
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Pectus excavatum, Joint stiffness, Abnormal thorax morphology, Flexion contracture,... ORPHA:1979
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide anterior font... ORPHA:15
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda... OMIM:258860
Fryns Syndrome
Omphalocele, Ureteral duplication, Hypospadias, Rocker bottom foot, Proximal placement of thumb, ... OMIM:229850
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocytopenia, Spleno... ORPHA:77259
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture, Microcephaly OMIM:618201
Aortic Aneurysm, Familial Thoracic 10
Joint laxity, Bicuspid aortic valve, Pectus excavatum, Dural ectasia, Mitral regurgitation, Dispr... OMIM:617168
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... OMIM:619142
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Ventricular septal defect, Broad hallux,... OMIM:615948
Menkes Disease
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Recurrent fractures, Tarsal... ORPHA:565
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Clinodactyly of the 5th finger, Short s... OMIM:611962
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Calcaneovalgus defor... ORPHA:261552
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Patent d... OMIM:618961
Ellis Van Creveld Syndrome
Micromelia, Conical incisor, Narrow chest, Atrial septal defect, Atrioventricular canal defect, N... ORPHA:289
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic... OMIM:251000
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart failure, Anemia ORPHA:163596
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb muscle weakness, Hypoplasia of the maxilla, Lower limb amyotrophy, S... OMIM:300266
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus, Tachypnea, Hypoxemia, Right ventricular hypertrophy ORPHA:860
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Iron deficiency anemia, Palpit... ORPHA:100078
Craniorachischisis
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia ORPHA:63260
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal clavicle morphology, Short stature, Mi... ORPHA:2067
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis, Glycosuria ORPHA:589
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... ORPHA:348
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Renpenning Syndrome 1
Mandibular prognathia, Short stature, Ventricular septal defect, Micrognathia, Situs inversus tot... OMIM:309500
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Calcaneovalgus defor... ORPHA:2152
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Microcytic anemia, Micrognathia, Splenomegaly, Supernumerary tooth, Pe... OMIM:619525
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Eosinophilia, Abnormal pericardium morphology, Po... ORPHA:284
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Aplasia of the abdominal ... OMIM:100100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Calcaneovalgus defor... ORPHA:261537
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Classic Homocystinuria
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavat... ORPHA:394
Doors Syndrome
Respiratory distress, Hemivertebrae, Abnormal finger morphology, Triphalangeal thumb, Aspiration ... ORPHA:79500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Long toe, Decreased muscle mass, Short stature, Recurrent fractures, Kypho... ORPHA:3063
Eosinophilic Fasciitis
Myositis, Fasciitis, Cellulitis, Muscular edema, Acrocyanosis ORPHA:3165
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Cyanosis, Apnea, Limb hypertonia OMIM:619580
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Glycogen acc... ORPHA:365
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Cellulitis, Subcutaneous hemorrhage ORPHA:238459
Rhyns Syndrome
Renal insufficiency, Radial bowing, Chronic kidney disease, Short long bone, Short femoral neck, ... OMIM:602152
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology, Short stature ORPHA:2374
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hydroceph... OMIM:620157
Shukla-Vernon Syndrome
Pectus excavatum, Long fingers, Tapered finger OMIM:301029
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, 2-3 toe syndactyly, Enlarged kidney, P... OMIM:618280
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ... ORPHA:84
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Mowat-Wilson Syndrome
Delayed eruption of teeth, Short stature, Ventricular septal defect, Pectus excavatum, Patent duc... OMIM:235730
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Respiratory distress, Congenital hip dislocation, Atrial septal defect, Dandy-Walker ... ORPHA:480880
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Broad 2nd toe, Pectus excavatum, Clinodacty... OMIM:280000
Congenital Myopathy 17
Mandibular prognathia, Overlapping fingers, Overlapping toe, Tapered finger, Pectus excavatum, De... OMIM:618975
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Microcephaly, Aplasia of the pectoralis major muscle, Glan... ORPHA:1358
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Short stature, Fifth finger di... OMIM:257850
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysi... OMIM:123000
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Geleophysic Dysplasia 2
Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffness, Limitation of joint m... OMIM:614185
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Lymphatic Malformation 6
Short stature, Micrognathia, Pectus excavatum, Splenomegaly, Chylothorax, Scoliosis, Atrial septa... OMIM:616843
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed... ORPHA:50814
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Short stature, Recurrent fractures, Micrognathia, Persistence of primary teeth, Pec... ORPHA:2785
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Postaxial... OMIM:302960
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Ventri... ORPHA:26793
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Arachnodactyly, Bicuspid aortic valve, Transient ischemic attack, Cardiomeg... ORPHA:91387
Fraser Syndrome 1
Encephalocele, Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Aplasia/... OMIM:219000
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, Microcephaly, ... OMIM:301044
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly OMIM:246560
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis... ORPHA:667
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... ORPHA:79404
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Abnormal metatarsa... ORPHA:85408
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Growth delay, Respiratory failure, R... ORPHA:2707
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Ventriculomegaly, Short stature, Overlapping toe, Craniosynostosis, Micr... OMIM:309590
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Relative macrocephaly, Postaxial polydactyly, Patent ductus arteriosus, Squared ilia... OMIM:616300
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Petechiae, Pneumonia, Epistaxis, D... ORPHA:340
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pulmonary artery pressure... ORPHA:199241
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Short s... ORPHA:508542
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Short stature, Craniosynostosi... ORPHA:794
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Short stature, Tapered finger, Pectus excavatum, Short nose,... OMIM:601088
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Scoliosis, Lymphopenia OMIM:158350
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Atrophy of the spinal cord, Hydro... ORPHA:79282
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Esophageal Atresia
Subglottic stenosis, Respiratory distress, Ventricular septal defect, Clinodactyly, Episodic resp... ORPHA:1199
Harrod Syndrome
Arachnodactyly, Long nose, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyp... ORPHA:2115
Tricuspid Atresia
Cyanosis ORPHA:1209
Witteveen-Kolk Syndrome
Inguinal hernia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Co... OMIM:613406
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Van Esch-O'Driscoll Syndrome
Sacral dimple, Short stature, Ventricular septal defect, Pulmonary valve atresia, Retrognathia, G... OMIM:301030
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormality of the kidney, Neonatal asphyxia, Patent ductus arter... ORPHA:141127
Cocaine Intoxication
Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Rhabdomyolysis, Tachypnea, Pneum... ORPHA:90068
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture... OMIM:259050
Primary Hyperoxaluria
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... ORPHA:416
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Mandibular prognathia, Aortic regurgitation, Tricuspid regurgitation, Short stature... OMIM:617402
Coffin-Siris Syndrome 12
Joint laxity, Short stature, Facial palsy, Micrognathia, Pectus excavatum, Short thumb, Slender f... OMIM:619325
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Short nose, Adducted thumb ORPHA:50810
Orofaciodigital Syndrome Type 14
Microretrognathia, Dilated fourth ventricle, Ventricular septal defect, Broad hallux, Deviation o... ORPHA:434179
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon... ORPHA:2038
Pseudoachondroplasia
Short metacarpal, Brachydactyly, Ulnar metaphyseal irregularity, Irregular carpal bones, Delayed ... OMIM:177170
Campomelic Dysplasia
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... ORPHA:140
Goodpasture Syndrome
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Crackles, Cough, Inc... OMIM:233450
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hypospadias, Microcephaly, Asthma, Recurrent... ORPHA:209905
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe... ORPHA:781
19P13.13 Microdeletion Syndrome
Sandal gap, Pectus excavatum, Long fingers, Macroglossia, Syringomyelia, Malar flattening, Clinod... ORPHA:357001
Tetrasomy 9P
Joint dislocation, Myositis, Short neck, Micrognathia, Clinodactyly of the 5th finger, Patent for... ORPHA:3310
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly OMIM:613819
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis, Hydrocephalus, Hypertension, Hypoplasia of the zygomatic ... ORPHA:1555
Meier-Gorlin Syndrome 4
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, P... OMIM:613804
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... ORPHA:99106
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Microcepha... OMIM:614748
Pallister-Killian Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Cam... OMIM:601803
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Tarsal synostosis, Abnormal mo... ORPHA:1307
Watson Syndrome
Short stature, Pulmonic stenosis, Pectus carinatum OMIM:193520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Emphysema, Lumbar hyperlordosis, ... ORPHA:500150
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... OMIM:241310
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Short stature, Multiple pterygia, Pectus excavatum, Malar flattening, Pterygium OMIM:177980
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Biotinidase Deficiency
Respiratory distress, Apnea, Organic aciduria, Limb muscle weakness, Hyperventilation ORPHA:79241
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... OMIM:613091
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Pectus excavatum, Short toe, Patent ductus arterios... ORPHA:1519
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Ventricular septal defect, Absent thumb, Absent radius, Thrombocytop... OMIM:227645
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Hypospadias, Postaxial polydactyly, R... OMIM:614091
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Short stature, Microgna... ORPHA:1772
Neurofibromatosis, Type I
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Pectus excavatum, Hydrocephal... OMIM:162200
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Scoliosis OMIM:615108
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Rocker bottom foot, Tapered finger, Growth delay, Finger cl... OMIM:601353
Pitt-Hopkins Syndrome
Tapered finger, Hiatus hernia, Microcephaly, Broad fingertip, Small hand, Short metatarsal, Finge... ORPHA:2896
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Microcephaly, Tapered finger, Short finger, Acrocyanosis ORPHA:1867
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... OMIM:609616
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Ventriculomegaly, Facial hypotonia, Broad hallux, Postaxial polydactyly,... ORPHA:457284
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... OMIM:618426
Bartsocas-Papas Syndrome 1
Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,... OMIM:263650
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly, Emphysema OMIM:614437
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Pulmonary valve atresia, Hip d... ORPHA:3474
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Hydrocephalus, Hypertension... OMIM:123790
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Scoliosis OMIM:615109
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Dyskeratosis Congenita
Short stature, Recurrent fractures, Abnormality of neutrophils, Telangiectasia of the skin, Hypop... ORPHA:1775
Iniencephaly
Omphalocele, Renal agenesis, Rocker bottom foot, Congenital diaphragmatic hernia, Arthrogryposis ... ORPHA:63259
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93950
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Abnormal distal phalanx morph... ORPHA:2673
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Branchioskeletogenital Syndrome
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro... ORPHA:1299
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Stiff neck, Crackles, Myocarditis, Leukocytosis, Nonproductive cough... ORPHA:319213
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Asthma, Cranial hyperostosis, Imbalanced hemoglobin synth... ORPHA:330015
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Inguinal hernia, Broad hallux, Sandal g... ORPHA:404448
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... OMIM:616367
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Short neck, Hypoplasia of the maxilla, Tapered f... OMIM:609460
Kallmann Syndrome-Heart Disease Syndrome
Micropenis, Cyanosis, Renal agenesis ORPHA:2326
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Micrognathia, Pectus excavatum, Kyphosis, Radial deviation of finger, Malar flattening, Clinodactyly OMIM:609944
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Nonproductive cough, Patent ductus arteri... ORPHA:980
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... OMIM:259900
Gorlin-Chaudhry-Moss Syndrome
Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Abnormal metacarpal morpholog... ORPHA:2095
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... OMIM:607634
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... OMIM:606851
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Skin Creases, Congenital Symmetric Circumferential, 1
Micrognathia, Pectus excavatum, Long fingers, Short neck, Dandy-Walker malformation OMIM:156610
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Pectus excavatum, Clinodactyly of the 5th finger, Joint hyperm... OMIM:618505
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Decreased sensitivity to hypoxemia, Acrocyanosis, Abnormal renal physiology OMIM:223900
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Microcephaly ORPHA:927
Listeriosis
Back pain, Respiratory distress, Pericarditis, Stiff neck, Osteomyelitis, Miscarriage, Pneumonia,... ORPHA:533
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectu... ORPHA:60030
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Opsismodysplasia
Short metacarpal, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, Respiratory ... OMIM:258480
Infantile Krabbe Disease
Respiratory distress, Decreased head circumference, Respiratory failure, Shoulder girdle muscle w... ORPHA:206436
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Short stature, Pectus excavatum, Wide nasal bridge, Mala... OMIM:201180
Sotos Syndrome
No permanent dentition, Flexion contracture, Atrial septal defect, Abnormal vertebral morphology,... ORPHA:821
Down Syndrome
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... OMIM:190685
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... OMIM:613805
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... ORPHA:79474
Buerger Disease
Acrocyanosis ORPHA:36258
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide nasal bridge, Finger clinodactyly, Pecto... ORPHA:306542
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Toxic Epidermal Necrolysis
Respiratory distress, Renal insufficiency, Dysuria, Abnormality of the urethra, Erythema, Restric... ORPHA:537
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... ORPHA:3429
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis OMIM:618780
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Sinus... OMIM:102700
Stuve-Wiedemann Syndrome 1
Apnea, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of fin... OMIM:601559
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Arthrogryposis multiple... OMIM:601809
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Bowing of the legs, Hypoplastic ilia, Microcephaly, Flexion contra... ORPHA:1865
Frontorhiny
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... ORPHA:391474
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Pneumonia, Urticaria, Tubulointerstitial nephritis, Nephrotic syn... ORPHA:37042
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Respiratory distress... ORPHA:79139
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Joint hyperflexib... ORPHA:96129
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Wide nasal bridge... OMIM:106260
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Abnormal hear... OMIM:601499
Caudal Regression Syndrome
Decreased muscle mass, Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal ... ORPHA:3027
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Facial hypotonia, Microcephaly, Heparan sulfate excretion in urine, Small h... OMIM:615273
Loeys-Dietz Syndrome 1
Joint laxity, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Micrognathia, Hydrocephalu... OMIM:609192
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Pectus excavatum, Increased vertebral height, Scoliosis, Camptodactyly, Camptodac... OMIM:610474
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Atrial... ORPHA:2044
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:861
Camurati-Engelmann Disease
Mandibular prognathia, Skeletal muscle atrophy, Increased bone mineral density, Carious teeth, Di... OMIM:131300
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Micrognathia, Carious teeth, Short neck, Tapered finger, Long fingers, Pectus exca... OMIM:616734
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Finger joint hypermobility, Hypermobility of inte... OMIM:130050
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid... OMIM:251100
Gm1 Gangliosidosis Type 1
Macroglossia, Flared iliac wing, Short long bone, Urinary glycosaminoglycan excretion, Abnormal o... ORPHA:79255
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Patent... OMIM:256520
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Macro... ORPHA:847
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Myopathy, Disproportionate tall stature,... OMIM:162300
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Apnea, Hyperventilation, Dyspnea, Ragged-red muscle fibers, Episodic r... ORPHA:255210
Marshall Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinus... ORPHA:560
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Flexion contracture, Flared metaphysis, Recurrent pneum... OMIM:215150
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Neonatal respiratory distress, 2-3 toe syndactyly, Pulmonary arterial hyperten... OMIM:620025
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Pectus excavatum, Su... OMIM:211380
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Hypopl... ORPHA:245
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Renal cyst, Cough ORPHA:137675
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pectus excavatum, Finger joint hypermobility OMIM:244200
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, Lambd... OMIM:123500
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Ketonuria, Methylmalonic aciduria OMIM:251110
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta... ORPHA:805
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... OMIM:203500
Aicardi-Goutieres Syndrome 1
Microcephaly, Erythema, Progressive microcephaly, Prolonged neonatal jaundice, Acrocyanosis, Pete... OMIM:225750
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Micrognathia, Dental malocclusi... ORPHA:137888
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... OMIM:101400
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Tall stature, Pectus excavatum, Bone cyst, Abnormal heart morphology, Overgrowth, Scoliosis, Join... OMIM:613675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia, Microcephaly ORPHA:438216
Vater/Vacterl Association
Occipital encephalocele, Laryngeal stenosis, Preaxial polydactyly, Abnormal sternum morphology, P... OMIM:192350
Gitelman Syndrome
Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Rhabdomyoly... ORPHA:358
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Carious teeth, Patent ductus arteriosus, Atrial septa... ORPHA:1051
Digeorge Syndrome
Pilonidal sinus, Short stature, Ventricular septal defect, Micrognathia, Splenomegaly, Patent duc... OMIM:188400
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Short stature, Genu rec... OMIM:619539
Bilateral Perisylvian Polymicrogyria
Apnea, Micrognathia, Pectus excavatum, Flexion contracture, Aspiration, Abnormality of masticator... ORPHA:98889
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Jaundice, 4-Hydroxyphenyl... OMIM:617156
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... ORPHA:93316
Nablus Mask-Like Facial Syndrome
Sandal gap, Craniosynostosis, Short neck, Hypoplasia of the maxilla, Tapered finger, Short hallux... OMIM:608156
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Distal amyotrophy, Abnormal spinal cord morphology ORPHA:139578
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Pectus excavatum, Limb hypertonia ORPHA:488613
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Arachnodactyly, Knee osteoarthritis, Disproportionate tall stature, Scol... OMIM:619656
Intellectual Developmental Disorder, Autosomal Dominant 42
Lower limb muscle weakness, Tapered finger, Pectus excavatum, Asthma, Adducted thumb, Growth dela... OMIM:616973
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormality of the knee, Respiratory distress, Calcification of the auri... ORPHA:51608
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymp... ORPHA:935
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Enuresis, M... ORPHA:293987
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Genu valgum, Postaxi... OMIM:225500
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest ORPHA:31824
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... ORPHA:284227
Cowden Syndrome
Short stature, Pectus excavatum, Kyphosis, Bone cyst, Macroglossia, Scoliosis, Mucosal telangiect... ORPHA:201
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, ... OMIM:617300
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Femoral bowing,... OMIM:616462
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, ... OMIM:618849
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Congestive heart failure, Abnormal spinal cord morphology, Spinal arteriovenous m... ORPHA:53721
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Poems Syndrome
Lipodystrophy, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Restricti... ORPHA:2905
You-Hoover-Fong Syndrome
Pectus excavatum, Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:616954
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Rheum... ORPHA:99867
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Hypospadias, Flexion... OMIM:619479
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Tricuspid regurgitation, Clinodactyly of the 5th fi... ORPHA:228396
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Short stature, HbH hemoglobin, Limb hypertonia ORPHA:423479
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th finger OMIM:167730
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Increased skull ossificatio... ORPHA:1422
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog... ORPHA:1190
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Acrocyanosis, Abnormality of the kidney ORPHA:1764
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Abnormal spinal cord morphology, Scoliosis, Camptodactyly, Flexion contr... ORPHA:88628
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Jaundice, Corneal scarring, Hepatocellular necrosi... OMIM:256810
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Arachnodactyly, Broad hallux, Cubitus valgus, Pectus excavatum, Dental malocclusion... OMIM:601552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Osteolysis ORPHA:494
Leptospirosis
Respiratory distress, Cellular urinary casts, Jaundice, Rhabdomyolysis, Cough, Pleural effusion, ... ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Osteol... ORPHA:1546
Angelman Syndrome
Mandibular prognathia, Macroglossia, Hypoplasia of the maxilla, Scoliosis OMIM:105830
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Relative macrocephaly, Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Flared ... OMIM:618019
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Hiatus ... ORPHA:287
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo... ORPHA:90041
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Lipoatrophy, Microcephaly, Panniculitis, ... ORPHA:51
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Pelvic kidney, Short palm, Dilatation of renal calices, Brachydactyly ORPHA:466943
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Short stature, Abnormal heart valve morphology, Te... ORPHA:286
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Aspiration, Flushing ORPHA:2131
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:187300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Hydrolethalus Syndrome 1
Omphalocele, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of p... OMIM:236680
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Palpable purpura, Cuti... ORPHA:48435
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Severe postnatal growth retardation, Clinodactyly of the 5th finger, A... ORPHA:2399
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Fibromuscular Dysplasia, Multifocal
Micrognathia, Pectus excavatum, Joint subluxation, Scoliosis, Malar flattening, Joint hypermobili... OMIM:619329
Lymphangiectasia, Pulmonary, Congenital
Mild postnatal growth retardation, Pectus excavatum, Wide nasal bridge, Chylothorax, Malar flatte... OMIM:265300
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Ventricular septal de... OMIM:164210
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Rapp-Hodgkin Syndrome
Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... OMIM:129400
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Bicuspid aortic valve, Down-sloping shoulders, Kyphoscoliosis, ... OMIM:309800
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Apnea, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Hip... ORPHA:285
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Hutchinson-Gilford Progeria Syndrome
Relative macrocephaly, Prominent superficial blood vessels, Cyanosis, Coxa valga, Absence of subc... ORPHA:740
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Clapo Syndrome
Macrodactyly, Pectus excavatum, Overgrowth, Narrow chest, Tall stature ORPHA:168984
Nocardiosis
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Microcephaly ORPHA:268943
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Stiff neck, Sinusitis, Facial palsy, Pneumonia, Abnormal spinal cord morphol... ORPHA:68
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Respiratory distress ORPHA:2309
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Hallux valgus, Short s... OMIM:614188
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... ORPHA:2330
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Inflammatory myopa... ORPHA:221
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Lymphocytic interstitial pneumonia, Raynaud phenomenon, Polyarticula... ORPHA:289390
Axenfeld-Rieger Syndrome
Growth delay, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:782
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Double Outlet Left Ventricle
Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:3427
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Mandibular prognathia, Angin... ORPHA:79318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, Exertional dyspnea ORPHA:99050
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Pectus excavatum OMIM:251750
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Hamstring contractures, Ankle clonus, Facial myokymia ORPHA:139396
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypoplasia of the maxilla, Taurodontia, Rhinitis, Short nose OMIM:305100
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Hydrocephalus, Agenesis o... OMIM:610829
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Superficial Siderosis
Back pain, Enlarged sylvian cistern, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnorma... ORPHA:247245
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Postnatal growth retardation, Hyperlordosi... OMIM:113620
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Hypoplasia of t... ORPHA:920
Plague
Respiratory distress, Tachycardia, Hematemesis, Splenomegaly, Abnormality of the elbow, Endocardi... ORPHA:707
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Isolated Arrhinia
Respiratory distress, Hypoplasia of the nasal bone, Aplasia of the nose, Absent nasal septal cart... ORPHA:1134
Adrenomyeloneuropathy
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneratio... ORPHA:139399
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Short stature, Portal hype... ORPHA:64
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Pelvic girdle muscle atrophy ORPHA:3044
Waardenburg Syndrome, Type 2E
Pectus excavatum OMIM:611584
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Abnormal spinal cord morphology, Myelitis ORPHA:83597
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Toe syndactyly, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... OMIM:604292
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis, Cough ORPHA:238468
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hypoplasia of the maxilla, Carious teeth, Split hand, Split foot, Hand polydactyl... OMIM:129900
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Craniosynostosis, Micrognathia OMIM:601374
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter