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Gene: Mia3 MGI:2443183

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
MIA SH3 domain ER export factor 3
Synonyms:
B230399H06Rik,  LOC385255,  9130229H14Rik,  Tango,  A930039G15Rik

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 Mia3 mutations

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

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

The table below shows human diseases associated to Mia3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Pruritus, Short toe, Asthma, Cone-shaped epiphyses of the pha... OMIM:619269

The table below shows human diseases predicted to be associated to Mia3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... OMIM:313420
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory... ORPHA:1832
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Anteverted nares, Depressed nasal ... OMIM:616809
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Edema... ORPHA:1423
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... OMIM:300717
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... ORPHA:266
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle... OMIM:618414
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Depressed nasal bridge, Hypoplasia o... OMIM:156530
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture, Polyhydramnios OMIM:615348
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Polyhydramnios, Fetal ascites, Micrognathia, Generalized osteosclerosis, ... OMIM:215045
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Int... ORPHA:2370
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscle weakness, Cryptorchidis... OMIM:611890
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Polyhydramnios, Abnormal limb bone morphology, Hydrops fetalis, L... ORPHA:2204
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure, Polyhydramnios OMIM:225753
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Achondrogenesis
Anteverted nares, Polyhydramnios, Abnormal enchondral ossification, Micrognathia, Micromelia, Hyd... ORPHA:932
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Metaphyse... OMIM:618961
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphysis OMIM:600561
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Lymphedema, Micrognathia, Abnormal pelvis ... ORPHA:1426
Atelosteogenesis, Type Ii
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La... OMIM:256050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Multiple joint contractures, Overlapping fingers, Femur fracture, Polyhydramnios, ... OMIM:618291
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Polyhydramnios, Abnormal enchondral ossification, Microgna... ORPHA:93299
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short 3rd metacarpal, Limb undergrowth, ... OMIM:118651
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Butyrylcholinesterase Deficiency
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... ORPHA:132
Achondrogenesis, Type Ib
Polyhydramnios, Micromelia, Edema, Hydrops fetalis, Respiratory insufficiency, Stillbirth, Short ... OMIM:600972
Achondrogenesis Type 1B
Anteverted nares, Polyhydramnios, Abnormal enchondral ossification, Micrognathia, Micromelia, Hyd... ORPHA:93298
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Short... ORPHA:217340
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinovarus, Camptodacty... OMIM:618011
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Clinodactyly, Short nose OMIM:300577
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi... ORPHA:93329
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal fingertip morpho... ORPHA:79106
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Micrognathia, Multiple prenatal fractures, Flexion contracture, Hydro... OMIM:616897
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short humerus, Telangiectasia of the... ORPHA:75508
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... OMIM:251450
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Polyhydramnios OMIM:616794
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Short nose, Inspiratory stridor, Bra... OMIM:618618
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Edema, Micromelia, Delayed ... ORPHA:93296
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Micromelia, Apnea, Flexi... OMIM:610015
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Choanal atresia, Polyhydramnios, Missing ribs, Dyspnea, Wid... ORPHA:2759
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal b... OMIM:614078
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... OMIM:300863
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Arthro... OMIM:619334
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, Small hand, Abnormal femur mor... ORPHA:969
Intermediate Nemaline Myopathy
Polyhydramnios, Multiple prenatal fractures, Flexion contracture, Cardiomyopathy, Respiratory fai... ORPHA:171433
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Micromelia, Metaphyseal cu... OMIM:613320
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Polyhydramnios ORPHA:1450
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Intraut... ORPHA:2145
Asbestos Intoxication
Reduced vital capacity, Edema, Right ventricular failure, Reduced forced vital capacity, Nonprodu... ORPHA:2302
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Respiratory insufficien... ORPHA:1914
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Micrognathia, Flexion contracture, Elbow flexion contracture, Hyperextensibility at wri... ORPHA:75840
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Polyhydramnios, Bowing of the legs, Micromelia, Abnormal ... OMIM:200600
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Congestive heart failure, Cryptorchidism, Flexion cont... ORPHA:1194
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hyperflexibility, Short nose, Convex ... ORPHA:1695
Geleophysic Dysplasia 3
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited wrist movement, Polyhyd... OMIM:617809
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Camptodactyly o... ORPHA:628
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Multiple prenatal fractures, Flexion contracture, ... OMIM:616867
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Microme... ORPHA:166272
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure OMIM:604801
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum, Femoral bowing, T... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Polyhydramnios, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Re... OMIM:618186
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognathia, Coxa valg... ORPHA:163649
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Moderate Hemophilia A
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Prolonged b... ORPHA:169805
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Respiratory insufficiency, Neonatal death, Tracheomalacia, Pulmonary i... OMIM:245650
Metatropic Dysplasia
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral... ORPHA:2635
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... ORPHA:2590
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Multiple joint contractures, Respiratory insufficiency ORPHA:370968
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenit... OMIM:615330
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Intrauterine growth... ORPHA:1495
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Nonimmune hydrops fetalis, Multiple prenatal fractures, Congestive heart fai... OMIM:166210
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Micromel... OMIM:151210
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De... ORPHA:950
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Intr... OMIM:614732
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Coxa ... ORPHA:166002
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplas... OMIM:108720
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Brachydactyly, Convex nasal ridge, Micrognathia ORPHA:1277
Greenberg Dysplasia
Polyhydramnios, Micrognathia, Multiple prenatal fractures, Micromelia, Patchy variation in bone m... OMIM:215140
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Flexion contracture OMIM:618379
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Osteomyelitis, Sinusitis, Pneumonia, ... ORPHA:449280
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure ORPHA:168486
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Peho-Like Syndrome
Short nose, Edema, Tapered finger OMIM:617507
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Edema, Micrognathia, Dilated cardiomyopathy, Respiratory failure, Arthrogryposis ... OMIM:607598
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Polyhydramnios, Dumbbell-shaped long bone, Advan... OMIM:269250
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... OMIM:302950
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Limb undergrowth, Abnormal metaph... ORPHA:177
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... OMIM:312170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... ORPHA:171839
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, H... ORPHA:178320
Acrocephalopolydactyly
Limb undergrowth, Short nose, Depressed nasal ridge, Brachydactyly ORPHA:221054
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Polyhydramnios, Bowing of the legs, Micromelia, Increa... OMIM:241500
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short metatarsal, Adv... OMIM:614613
Achondroplasia
Short nasal bridge, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hip joint hypermobility... ORPHA:15
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Jo... ORPHA:93323
Rhiny
Short nose, Anteverted nares OMIM:180360
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Respiratory insuf... ORPHA:1895
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Rhizomelia, Congestive heart failure... OMIM:616482
Atelosteogenesis Type Ii
Polyhydramnios, Micrognathia, Micromelia, Short phalanx of finger, Hypoplastic cervical vertebrae... ORPHA:56304
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Short metatarsal, Small ... OMIM:180870
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, 11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Spina bifida occulta, Shor... OMIM:617877
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Clinodactyly, Unilambdoid synostosis, Wide nasal ... OMIM:618577
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Joint hyperflexibility, Acrome... ORPHA:40
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Neonatal respiratory distress, Tricuspid regurgitation, Antevert... OMIM:618870
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites ORPHA:890
Sandestig-Stefanova Syndrome
Rocker bottom foot, Wide nasal bridge, Respiratory failure, Camptodactyly, Intrauterine growth re... OMIM:618804
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Clinodactyly of the 5th finger, S... OMIM:617991
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Short foot, Short finger, Short palm, Prom... OMIM:602342
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebrae, Vertebral hyp... ORPHA:79345
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Pde4D Haploinsufficiency Syndrome
Prominent nose, Micrognathia, Short metatarsal, Bilateral coxa valga, Short phalanx of finger, Br... ORPHA:439822
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypo... OMIM:617895
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose ORPHA:261120
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Abnormal thumb morphology, Depre... ORPHA:1842
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... OMIM:608836
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent skin infections, Broad nasal tip, Clinodactyly, Flexion contracture, Recurrent upper re... ORPHA:391372
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal ... OMIM:184260
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of ha... ORPHA:544503
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Polyhydramnios, Facial edema, Abnormal cartilage matrix, Epiphyseal stippling, ... ORPHA:86822
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger OMIM:155050
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Anteverted nares, Depressed nasal bridge, Overlapping toe, Apnea, ... OMIM:617301
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Kniest Dysplasia
Respiratory distress, Hip contracture, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long b... OMIM:156550
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... ORPHA:79126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Skin rash, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Resp... ORPHA:542323
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Micrognathia, Bulbous nose, Clinodactyly, Wide nasal bridge, Camptodactyly, Int... OMIM:613604
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postax... OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Respiratory failure, Death in infancy OMIM:618240
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth... OMIM:604320
Baker-Gordon Syndrome
Joint laxity, Prominent nasal tip, Short nose OMIM:618218
Thanatophoric Dysplasia
Depressed nasal bridge, Polyhydramnios, Joint stiffness, Micromelia, Increased nuchal translucenc... ORPHA:2655
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Dyspnea, Hypoplasia of th... ORPHA:3015
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short metacarpal, Anteverted nares, Depressed nasal bridge, Polyhy... ORPHA:1427
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Cryptorchidism, Intrauterine growth retardation, Joint contracture, S... OMIM:615419
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial ... OMIM:251230
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, Respiratory failure OMIM:616505
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Tapered finger, Respirato... ORPHA:2746
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Micromelia, Micrognathia, Bowing of the legs, Cryptorchidism, Flexion contracture, L... ORPHA:1865
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... ORPHA:1529
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Joint stiffness, Micrognathia, Abnormality of the humerus, Bulbous nos... ORPHA:2496
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Micrognathia, Ta... OMIM:613544
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect,... OMIM:606612
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Multiple prenatal fractures, Flexion contracture, R... ORPHA:171430
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Pruritus, Wheezing, Rickets OMIM:211600
Fibrochondrogenesis 1
Short palm, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Dumbbell-shaped long ... OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor... ORPHA:2636
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Micromeli... OMIM:211750
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... OMIM:601224
Stuve-Wiedemann Syndrome 1
Apnea, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short ... OMIM:601559
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar ... OMIM:193700
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... ORPHA:3342
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Polyhydramnios ORPHA:531
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Choanal atresia, Micrognathia,... ORPHA:1716
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossi... ORPHA:2772
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Anteverted nares, Depressed nasal bridge, Polyh... ORPHA:50945
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Depressed nasal bridge, Antevert... OMIM:217980
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... ORPHA:1248
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Increased suscepti... ORPHA:561
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Cryp... ORPHA:401935
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Limitation of joint mobility ORPHA:79327
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Polyhydramnios, Micrognathia, Limitation of joint mobility, Symphalangis... ORPHA:2547
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han... OMIM:241800
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation, Hypertr... OMIM:620326
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure ORPHA:70472
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... OMIM:263000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilate... ORPHA:352447
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calc... ORPHA:163966
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... ORPHA:429
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... ORPHA:158687
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Pneumonia, Edema, Polyhydramnios, Cryptorchidism, Flexion contracture, Abnormal res... ORPHA:98905
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowi... ORPHA:453510
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Polyhydramnios, Micromelia, Increased nuchal translucency, Limitation of ... ORPHA:93274
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Osteoglophonic Dysplasia
Osteopenia, Respiratory distress, Short metatarsal, Short palm, Short phalanx of finger, Broad me... OMIM:166250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Overlapping toe... ORPHA:254528
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Short ribs, Limb undergrowth, Ab... ORPHA:1803
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Polyhydramnios, Micromelia, Flared metaphysis, Respiratory insu... OMIM:187601
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Genu valgum, Reduced bone mineral density ORPHA:2983
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Respiratory failure ORPHA:1861
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Death in child... OMIM:614922
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... OMIM:617752
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... OMIM:607778
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Small h... ORPHA:3121
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion contracture, Ab... OMIM:271665
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Craniofacial osteoscler... ORPHA:324964
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Brachydactyly, Anteverted nares, Depressed nasal bridge, Rhizomelia, Flat capital fem... OMIM:271510
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Polyhydramnios, Joint stiffness, M... ORPHA:1860
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphal... OMIM:613870
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Limitation of joint mobility, Micromelia, Coxa vara ORPHA:168555
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Depressed nasal bridge, Anteverted nares, Edema, Micrognathia, Pericardial e... OMIM:617822
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Short nose OMIM:616910
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, Camptodactyly of finge... ORPHA:2176
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Missing ribs, Joint stiffness, Micrognathia, Limitation of ... ORPHA:1801
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Bilateral cryptorchidi... OMIM:619859
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing... OMIM:600081
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodac... ORPHA:1327
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Respiratory failure, Bruising susce... ORPHA:3226
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Reduced bone mineral density, Joint hyperflexibility, Short nose, Spina bifida ... ORPHA:1185
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular ne... ORPHA:2557
Kniest Dysplasia
Depressed nasal bridge, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bo... ORPHA:485
Hypertrichosis Cubiti
Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia ORPHA:2220
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot OMIM:618506
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Short nose, Dysplasia of the femoral h... OMIM:616854
Lethal Kniest-Like Dysplasia
Polyhydramnios, Edema, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal car... ORPHA:2347
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... OMIM:101600
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Microphthalmia With Limb Anomalies
Toe syndactyly, Depressed nasal bridge, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fu... OMIM:206920
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93259
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Micrognathia, Flexion contracture, Tibial bowing, Small proximal tibial epiphyses... ORPHA:96334
Idiopathic Pulmonary Hemosiderosis
Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Restrictive ventilatory defect, Res... ORPHA:99931
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Anteverted nares, Overlapping toe, Flexion contracture... OMIM:619383
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... OMIM:602557
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism, Intrauterine growth re... ORPHA:85173
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Trigonocephaly 1
Short nose, Wide nasal bridge, Craniosynostosis OMIM:190440
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Polyhydramnios, Wide nasal bridge, Limb undergrowth, Intrauterine growth retardation,... OMIM:618005
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Anteverted nares, Micromelia, Sandal gap, Genu valgum, Joint hyperflexibility, Co... ORPHA:1035
Prolidase Deficiency
Chronic lung disease, Depressed nasal bridge, Eczema, Micrognathia, Asthma, Crusting erythematous... OMIM:170100
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Shoulder flexion contracture, Micromelia, Micrognathia... OMIM:255800
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta ORPHA:1514
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossification, Rickets, ... OMIM:300554
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... ORPHA:60025
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Clinodactyly, Wide nasal bridg... OMIM:615583
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Respirator... OMIM:259720
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Micrognathia, Wide anterior fontanel... OMIM:225410
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, 2-3 toe syndactyly, Restric... OMIM:218000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, C... OMIM:616723
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Arachnodactyly, Mitral regurgitation, Bilateral talipes equinovarus, Talipes equino... OMIM:615539
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Polyhydramnios, Micrognathia, Contractures of the large joints,... ORPHA:329178
Teebi Hypertelorism Syndrome 2
Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Clinodactyly of the ... OMIM:619736
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Depressed nasal bridge, Osteomalacia, Joint stiffness, Micro... ORPHA:1901
Coxoauricular Syndrome
Abnormal femur morphology, Micromelia, Reduced bone mineral density ORPHA:1508
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia, Abn... ORPHA:2631
Adult-Onset Still Disease
Pericarditis, Skin rash, Pruritus, Myocarditis, Cartilage destruction, Recurrent pharyngitis, Art... ORPHA:829
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Wide nose, Short nose ORPHA:217385
Gaucher Disease, Perinatal Lethal
Respiratory distress, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Nonimmune hydrops... OMIM:608013
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... ORPHA:93352
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Wide anterior fontanel, Congestive heart failure, Dyspnea, Cardiorespirat... ORPHA:26791
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of... ORPHA:2633
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing... OMIM:241530
Tetrasomy 5P
Respiratory distress, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Congestive h... ORPHA:3309
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee... ORPHA:328
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Eczema, Allergic rhinitis, Asthma, 2-3 toe syndactyly, Knee flexio... OMIM:618162
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnios, Micromeli... ORPHA:85166
Perlman Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Short nose ORPHA:2849
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Clubbing, Bronchiecta... ORPHA:244
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi... OMIM:602875
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Short palm, Shor... ORPHA:93328
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Abnormal pattern of respiration ORPHA:833
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Camptodactyly of finger, Proximal p... ORPHA:261211
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Dehydration, Death in adolescence, Death in childhood OMIM:560000
Lowry-Maclean Syndrome
Osteopenia, Choanal atresia, Craniosynostosis, Micrognathia, Bilateral cryptorchidism, Osteoporos... ORPHA:2409
Peho Syndrome
Edema of the dorsum of feet, Edema, Tapered finger, Edema of the dorsum of hands, Short nose OMIM:260565
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Prolonged bleeding time, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent ... OMIM:616229
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Atopic dermatitis, Osteopetrosis ORPHA:3240
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Prominent nose, Micrognathia, Generaliz... ORPHA:763
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Neonatal respira... ORPHA:168549
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Microme... ORPHA:1318
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Nephronophthisis 2
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary insufficiency, Oligohydra... OMIM:602088
Hypercholanemia, Familial 1
Pruritus, Rickets OMIM:607748
Poikiloderma With Neutropenia
Joint laxity, Skin rash, Depressed nasal bridge, Edema, Joint stiffness, Underdeveloped nasal ala... OMIM:604173
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Respiratory distress... OMIM:613848
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tachycardia, Tapered finger, Bilateral cryptorchidism, Bulbous nose, 2-3 toe synda... ORPHA:485405
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morphology, Radioulnar syno... ORPHA:1988
Immunodeficiency 54
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:609981
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Postaxial foot... ORPHA:474
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Eczema, Cryptorchidism, Bulbous nose, Asthma, Osteoporosis, Wide nas... ORPHA:488632
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Bilateral cr... OMIM:305400
Kagami-Ogata Syndrome
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognathia, Coxa valga, Long fingers,... OMIM:608149
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Decreased testicular size, Wide nose, Broad hallux, Prominent nasal bridge, Micrognat... ORPHA:251028
Geleophysic Dysplasia 1
Osteopenia, Anteverted nares, Camptodactyly of finger, Tricuspid stenosis, Joint stiffness, Coxa ... OMIM:231050
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Edema, Rhizomelia, Hy... OMIM:258480
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... OMIM:268310
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Polyhydramnios, C... ORPHA:363528
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Respiratory failure ORPHA:363400
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clin... OMIM:618828
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Vasculitis, Respiratory failure, Petechiae ORPHA:83313
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Anteverted nares, Micrognathia, Deviation of the 5th toe, Clinodactyly, ... ORPHA:391408
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Lymphedema, Micrognathia, Generalized joint laxity, Flex... ORPHA:536471
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... OMIM:620249
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93260
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Micrognathia, Clinodactyly, Wide nas... OMIM:618529
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Eczema, Craniosynostosis, Micrognathia, Cryptorch... ORPHA:96097
Gm1 Gangliosidosis
Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Broad nasal tip, Congestive hea... ORPHA:354
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Portal hypertension, Tachypnea, Rickets, Respiratory insufficiency, Red... OMIM:613658
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Shor... ORPHA:175
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Clinodacty... OMIM:616331
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal ... OMIM:249620
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Arrhythmia, Brachydactyly ORPHA:2928
Hall-Riggs Syndrome
Anteverted nares, Prominent nose, Joint stiffness, Wide nasal bridge, Limb undergrowth, Abnormal ... ORPHA:2107
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Flexion contracture, Limb undergrowth, Intrauterine growth retarda... ORPHA:79243
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Al-Raqad Syndrome
Joint laxity, Short nose, Sandal gap, Brachydactyly OMIM:616459
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal metap... ORPHA:93160
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
20Q11.2 Microduplication Syndrome
Anteverted nares, Depressed nasal bridge, Palpebral edema, Periorbital edema, Cryptorchidism, Wid... ORPHA:363659
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Cryptor... ORPHA:2083
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho... OMIM:613443
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Clinodactyly, Wide nasal bridge... ORPHA:369891
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Telangiectasia of the skin, Depressed nasal bridge, Underdeveloped nasal alae, Microg... OMIM:616007
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Anteverted nares, Eczema, Prominent nasal bridge, Cryptorchidism, Recurrent pneumon... ORPHA:500159
Atelosteogenesis Type I
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification involving the femora... ORPHA:1190
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Osteoporosis, Lambd... OMIM:615398
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, Short nose, Bra... ORPHA:2701
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Polyhydramnios, Long nose, Micrognathia, Short phalanx of finger, Broad m... ORPHA:508533
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Micrognathia, Small hand, Wi... OMIM:145420
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Facial telangiectasia, Short nose OMIM:615851
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Short nose, Thick nasal alae ORPHA:163961
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia ORPHA:2598
Codas Syndrome
Short metacarpal, Depressed nasal bridge, Anteverted nares, Joint hyperflexibility, Midline defec... ORPHA:1458
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract infections, Calcaneovalgus de... ORPHA:3078
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Oculodentodigital Dysplasia
Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nare... ORPHA:2710
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Cryptorchidi... OMIM:618316
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Short nose, Sandal gap OMIM:300887
Antley-Bixler Syndrome
Anteverted nares, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness... ORPHA:83
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Metaphyseal widening, Bronchospasm, Absent nasal bridge, Short finger, ... OMIM:612813
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Brachydactyly, Recurrent fractures, Prominent nasal bridge, Narrow nos... OMIM:601812
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Short nose, Anteverted nares, Craniosynostosis OMIM:601853
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal no... ORPHA:1295
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Polyhydramnios, Micrognathia, Coxa valga, Hammertoe, Distal arthrogryposi... OMIM:619833
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Respiratory i... ORPHA:1597
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res... OMIM:609015
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Micromelia, Short nose, ... ORPHA:50810
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Bainbridge-Ropers Syndrome
Death in infancy, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominen... OMIM:615485
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Short distal phalanx of toe, Short nose, Bilateral triphalangeal ... OMIM:619356
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Abnormal respiratory system physiology, Absent nasal bridge, Mesomelia,... ORPHA:171866
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion co... OMIM:609945
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Meckel Syndrome, Type 8
Pericardial effusion, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Short nose OMIM:613885
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Cry... OMIM:616638
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Underdeveloped nasal alae, Aplasia/Hypoplasia of... ORPHA:1234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Narrow nasal ridge, Micrognathia, Flexion contracture, Progressive clav... OMIM:608612
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Edema, Pericardial effusion, Short nose, Ascites OMIM:608776
Raine Syndrome
Death in infancy, Increased bone mineral density, Bowing of the long bones, Depressed nasal bridg... OMIM:259775
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Cryptorch... ORPHA:2879
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis, Short nose ORPHA:90653
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose, Joint hypermobility OMIM:300143
Dent Disease 1
Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossification, Rickets, ... OMIM:300009
Marshall-Smith Syndrome
Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Distal widening of metacarpa... OMIM:602535
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Distal Deletion 10Q
Sandal gap, Prominent nasal bridge, Craniosynostosis, Prominent nose, Tapered finger, Micrognathi... ORPHA:96148
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Small hand, Broad columella, Depressed nasal tip, Short foot, Wide n... ORPHA:488434
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Dehydration OMIM:602722
Peho Syndrome
Anteverted nares, Palpebral edema, Tapered finger, Flexion contracture, Limitation of joint mobil... ORPHA:2836
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Micromelia ORPHA:93283
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Phocomelia, Short metacarpal, Depressed nasal bridge, Cryptor... ORPHA:3404
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... OMIM:615512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Flexion contracture, Aspiration, Respiratory insufficiency, Cardiomyopathy, Resp... ORPHA:258
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Polyhydramnios, Death in childhood OMIM:619847
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Myhre Syndrome
Vertebral fusion, Overlapping toe, Prominent nasal bridge, Joint stiffness, Pericardial effusion,... OMIM:139210
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Depressed nasal bridge, Rhizomelia, Craniosynostosis, Micrognathia, Bulbous... OMIM:614114
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Microretrognathia, Recurrent skin infections, Craniosynostosis, Tapered finger... ORPHA:2953
Fibrochondrogenesis
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micromel... ORPHA:2021
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Polyhydramnios, Micrognathia, Fractures of th... ORPHA:496641
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal... ORPHA:93357
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ... ORPHA:521426
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Short palm, Intrauter... ORPHA:238750
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Short nose, Micrognathia OMIM:617183
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... ORPHA:365
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Alg9-Cdg
Microretrognathia, Hitchhiker thumb, Tricuspid regurgitation, Depressed nasal bridge, Ulnar devia... ORPHA:79328
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Micromelia, Abnormality of the nose, Micr... ORPHA:35107
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Bowing of the long bones, Micromelia, Abnorm... ORPHA:1798
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Abnormal fingertip morphology,... ORPHA:79404
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Respirator... OMIM:224410
Geleophysic Dysplasia 2
Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Respiratory insufficiency, Sho... OMIM:614185
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Respiratory insuf... OMIM:607625
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Cryptorchidism, Small hand, Short palm, Clinodactyly of the... ORPHA:1786
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Flexion contracture, Femoral bowing, Choanal stenosis, Elbow ankylosis, Short metac... ORPHA:95699
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Hammertoe, Respiratory failure, Intercostal muscle weakness OMIM:606071
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, P... OMIM:210710
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Respiratory insufficiency, ... ORPHA:746
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Slender nose, Short metacarpal, Aplasia/hypoplas... ORPHA:221016
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Polyhydramnios, Micrognathia, Micromelia, Flexion contracture, Osteopor... ORPHA:2671
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Camptodactyly o... ORPHA:90652
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ... ORPHA:63446
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Poly... OMIM:620369
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Smith-Magenis Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Joint stiffness, Micrognathia, Wide nas... ORPHA:819
Tetrasomy 18P
Large hands, Short nose, Syncope ORPHA:3307
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat... ORPHA:90154
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Polyhydramnios, Craniosynostosis, Choanal stenosis, Short nose ORPHA:1790
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Tarsal synostosis, Duplication of thumb pha... ORPHA:2756
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Internal hemorrhage, Prolonged bleeding time, Sudden cardiac ... ORPHA:906
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Joint hypermobility, Sandal gap, Repeated pneumothoraces, Long nose, Cryptorchidi... OMIM:617602
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure ORPHA:2707
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Ankle flexion contracture, Polyhydramnios, Micrognathia, Hypercapnia, Respirator... ORPHA:2020
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Respiratory failure, Limb joint contracture, Intrauterine growth retardation OMIM:620327
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Metaphyseal cupping, Metaphyseal widening, Short ribs, Short nose OMIM:614524
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Telangiectasia of the sk... ORPHA:2909
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Polyhydramnios, Edema, Bowing of the legs, Short toe, Respiratory insuffici... OMIM:269860
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Sebo... OMIM:300868
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Short nose, Depressed nasal bridge, Micrognathia ORPHA:1913
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat... ORPHA:314655
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly ORPHA:210548
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology ORPHA:803
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal brid... OMIM:619124
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Cerebral edema, Death in childhood OMIM:617186
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Pericardial effusion... ORPHA:555874
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Decreased heart rate var... OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Sandal gap, Micrognathia, Tapered finger, Bulbous nose, Wide nasal bridge... OMIM:617061
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Alkaptonuria
Myocardial infarction, Joint stiffness, Cartilage destruction, Abnormality of the nose, Osteoarth... ORPHA:56
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Laron Syndrome
Limb undergrowth OMIM:262500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Depressed nasal bridge, Rhizomelia, Broad hallux, Bowed hum... OMIM:618019
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,... OMIM:602398
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Long nose, Right bundle branch block, Short nose, Joint hyper... OMIM:618590
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... ORPHA:157215
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis, Respiratory failure ORPHA:88618
Dpm1-Cdg
Depressed nasal bridge, Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb u... ORPHA:79322
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose OMIM:614105
3C Syndrome
Finger syndactyly, Death in infancy, Depressed nasal bridge, Micrognathia, Missing ribs, Wide nas... ORPHA:7
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Aplastic clavicle,... ORPHA:2554
Donnai-Barrow Syndrome
Wide anterior fontanel, Short nose, Depressed nasal bridge ORPHA:2143
Marshall Syndrome
Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Co... OMIM:154780
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent... ORPHA:420741
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Rocker bottom foot, Edema, Micrognathia, Postaxial polydactyly, Long fingers, Respiratory ... OMIM:617527
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... OMIM:618430
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose ORPHA:1702
Costello Syndrome
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ... OMIM:218040
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Prolonged prothro... ORPHA:335
Schwartz-Jampel Syndrome
Apnea, Polyhydramnios, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in i... ORPHA:800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Pulmonic stenosis, Short nose ORPHA:284169
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... ORPHA:679
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Pterygium Colli, Isolated
Short nose OMIM:177990
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia... OMIM:146510
Tetrasomy 12P
Joint hyperflexibility, Short nose, Anteverted nares ORPHA:884
Leigh Syndrome
Multiple joint contractures, Eczema, Congestive heart failure, Respiratory failure, Intrauterine ... ORPHA:506
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Clinodactyly, Int... OMIM:615866
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Po... OMIM:115150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed ossification of carpal bon... OMIM:239300
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Micrognathia, Congestive heart failure, Neonatal asphyxia, Respirato... OMIM:608779
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... OMIM:616430
Baraitser-Winter Syndrome 1
Anteverted nares, Cryptorchidism, Duplication of phalanx of hallux, Wide nasal bridge, Aortic val... OMIM:243310
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... OMIM:617866
Weiss-Kruszka Syndrome
Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th finger, Short nose, Horizo... OMIM:618619
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Intrauterine growth retardation, Shor... ORPHA:1912
Ogden Syndrome
Apnea, Lymphedema, Micrognathia, Ventricular tachycardia, Supraventricular tachycardia, Clinodact... OMIM:300855
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Wide anterior fontanel, Intrauterine growth retardation, Short nose, Joint hype... OMIM:219200
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Wide ... OMIM:613026
Trisomy 20P
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Micrognathia, Cryptorchidism, Preax... ORPHA:261318
Poliomyelitis
Respiratory failure requiring assisted ventilation, Stiff neck, Hypertension, Hypovolemic shock, ... ORPHA:2912
Omodysplasia 1
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Limi... OMIM:258315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:614749
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Wide nasal bridge, Coxa vara, 2-3 toe syndactyly, Radioulnar synost... OMIM:614701
Miller-Dieker Lissencephaly Syndrome
Anteverted nares, Polyhydramnios, Micrognathia, Cryptorchidism, Wide nasal bridge, Polydactyly, C... OMIM:247200
Developmental Delay With Or Without Dysmorphic Facies And Autism
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Narrow nose, Micrognathia, Cryp... OMIM:618454
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Bulbous nose, Anteverted nares, Short nose OMIM:616420
Listeriosis
Respiratory distress, Unusual skin infection, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia,... ORPHA:533
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Depressed nasal bridge, Ankle flexion contracture, Micrognathia OMIM:617802
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Joint stiffness, Intrauterine growth retardation, Short nose ORPHA:1915
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Angina pectoris, Anteverted nares, Lymphedema, Micrognathia, Telangiectasia, Intracran... ORPHA:109
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Micro Syndrome
Anteverted nares, Joint stiffness, Micrognathia, Cryptorchidism, Wide nasal bridge, Intrauterine ... ORPHA:2510
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Limitation of joint mob... OMIM:224400
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Clinodactyly, 4-5 ... OMIM:164200
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Postaxial hand polydactyly ORPHA:1389
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, Sho... OMIM:242860
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... OMIM:610505
Cystinosis
Rickets, Portal hypertension, Dehydration ORPHA:213
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ... ORPHA:251071
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Raynaud phenomenon, Vasculitis, ... ORPHA:1855
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Short nose, Micrognathia ORPHA:496790
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Respiratory insufficiency ORPHA:69077
Meier-Gorlin Syndrome 6
Microretrognathia, Depressed nasal bridge, Anteverted nares, Sandal gap, Underdeveloped nasal ala... OMIM:616835
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Microcephaly-Capillary Malformation Syndrome
Wide nose, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly OMIM:614261
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Talipes equinovarus, Hand clenching, Short nose, Joint h... OMIM:617988
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Respiratory distress, Brachydactyly, Anteverted nares, Overlapping toe, Broa... ORPHA:177907
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex OMIM:230600
Johanson-Blizzard Syndrome
Death in infancy, Edema, Underdeveloped nasal alae, Abnormal nostril morphology, Short nose, Intr... ORPHA:2315
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Polyhydramnios, Micrognathia, Proximal placement of thumb, Knee ... ORPHA:3103
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Respiratory insufficiency, Clinodactyly of the 5th f... ORPHA:2031
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Facial edema, Cryptorchidism, ... ORPHA:221008
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Morbilliform rash, Ecchymosi... ORPHA:99827
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Tricuspid regurgitation, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryp... OMIM:616894
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Subretinal pigment epithelium hemorrhage, Generalized joint la... ORPHA:357074
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Dimple on nasal tip, Broad t... ORPHA:1784
Short Stature, Microcephaly, And Endocrine Dysfunction
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Dilated cardiomyopathy, Limb ... OMIM:616541
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Micromelia, Increased skull ossification, Intrauterine growth retardation, Shor... ORPHA:1422
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Tapered finger, Short hallux, Cryptor... OMIM:608156
Bloom Syndrome
Skin rash, Pneumonia, Micrognathia, Chronic pulmonary obstruction, Oligozoospermia, Telangiectasi... ORPHA:125
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Nocardiosis
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cou... ORPHA:31204
3M Syndrome
Hypoplasia of the ulna, Anteverted nares, Rocker bottom foot, Micromelia, Bulbous nose, Joint hyp... ORPHA:2616
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Apnea, Micrognathia ORPHA:1129
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Block vertebrae, Tarsal synostosis, Anteverted nares, Broad n... OMIM:272460
Intellectual Developmental Disorder, Autosomal Dominant 1
Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Short foot, Short ... OMIM:156200
Abetalipoproteinemia
Osteopenia, Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time, Respiratory ... ORPHA:14
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Polyhydramnios, Micromelia, Lymphedema, Cryptor... ORPHA:3144
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Polyhydramnios, Tapered finger, Intraventricular hemorrhage, Wide nasal bridge... OMIM:613603
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Polyhydramnios, Micro... OMIM:600383
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, De... ORPHA:3003
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... ORPHA:87
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Wide nose, Monorchism, Camptodactyly of finger, Cho... ORPHA:2753
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi... OMIM:610536
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly, Short nose OMIM:618087
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna ORPHA:2491
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Respiratory distress ORPHA:206436
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Trichothiodystrophy 1, Photosensitive
Death in infancy, Asthma, Flexion contracture, Telangiectasia, Erythroderma, Short nose OMIM:601675
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Short nose, Clinoda... OMIM:614225
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Wide nose, Anteverted nares, Overlappi... OMIM:213980
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destructio... ORPHA:29207
Kleefstra Syndrome
Anteverted nares, Cryptorchidism, Dyspnea, Limitation of joint mobility, Talipes equinovarus, Tra... ORPHA:261494
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa valga, Avasc... ORPHA:198
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, T... OMIM:613458
Trisomy 12P
Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Short nose ORPHA:1699
Kinsship Syndrome
Osteopenia, Death in infancy, Micrognathia, Coxa valga, Bulbous nose, Low hanging columella, Fibu... OMIM:619297
Cardioacrofacial Dysplasia 1
Limb undergrowth, Overhanging nasal tip, Postaxial polydactyly, Genu valgum OMIM:619142
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Limited ... OMIM:608728
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Mosaic Trisomy 9
Camptodactyly of finger, Polyhydramnios, Micrognathia, Micromelia, Cryptorchidism, Bulbous nose, ... ORPHA:99776
Warburg Micro Syndrome 3
Micrognathia, Flexion contracture, Clinodactyly of the 5th finger, Short nose, Decreased testicul... OMIM:614222
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Wide nasal bridge, ... ORPHA:1908
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Osteoarthritis, Hypoplastic frontal sinus... ORPHA:560
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx o... ORPHA:364577
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Ante... OMIM:180700
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Polyhydramnios, Micrognathia, M... OMIM:256520
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Recurrent fractures, Osteomalacia, Fibrous dyspl... ORPHA:562
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Short nose, Ascites OMIM:200995
Down Syndrome
Joint laxity, Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Clinodactyly of the 5th ... ORPHA:870
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Short nose, Wide nasal bridge, Micrognathia OMIM:620250
Fontaine Progeroid Syndrome
Syndactyly, Death in infancy, Tricuspid regurgitation, Depressed nasal bridge, Craniosynostosis, ... OMIM:612289
Chops Syndrome
Anteverted nares, Cryptorchidism, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral ... OMIM:616368
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Micrognathia, Cryptorchidism, Short thumb, Osteoporosis, Small hand, Tela... OMIM:268400
Slc39A8-Cdg
Osteopenia, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Knee flexion cont... ORPHA:468699
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency, Prolonged prothrombi... OMIM:618329
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Degcags Syndrome
Osteopenia, Polyhydramnios, Prominent nose, Micrognathia, Intrauterine growth retardation, Syndac... OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Coxa vara, Joint hyperf... ORPHA:2637
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Anteverted nares... ORPHA:1507
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Eczema, Brachyd... OMIM:601358
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Clinodactyly of the 5th finger, P... ORPHA:65286
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Polyhydramnios, Cryptorchi... OMIM:609942
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Polyhydramnios, Microgn... OMIM:612651
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Anteverted nares, Sandal gap, Craniosynostosis, Broad nasal tip... ORPHA:363611
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... OMIM:211350
Au-Kline Syndrome
Overlapping toe, Wide nasal ridge, Craniosynostosis, Sagittal craniosynostosis, Prominent nasal b... OMIM:616580
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short sternum,... OMIM:257300
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, S... ORPHA:264450
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in infancy, Femur fracture, Recurrent pneumonia, Osteo... OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Anteverted nares, Depressed nas... OMIM:269150
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Increased nuchal translucency... ORPHA:357001
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short... OMIM:615803
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Underdeveloped nasal alae, Bilateral cryptorc... OMIM:263650
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Palpebral edema, Depressed nasal bridge, Short nose ORPHA:261144
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Br... ORPHA:97360
Deeah Syndrome
Death in infancy, Neonatal respiratory distress, Overlapping fingers, Decreased heart rate variab... OMIM:619004
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Asthma, Intrauterine g... ORPHA:280200
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Peric... ORPHA:1272
Macrocephaly/Autism Syndrome
Joint laxity, Short nose, Depressed nasal bridge, Hydrocele testis OMIM:605309
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respi... OMIM:252010
Coffin-Siris Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Clinodac... ORPHA:1465
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Fraser Syndrome 2
Wide nose, Underdeveloped nasal alae, Cutaneous syndactyly, Respiratory failure, Oligohydramnios OMIM:617666
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Short nose OMIM:222448
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Vertebral fusion, Bundle branch block, Finger syndactyly, Anteverted nares... ORPHA:373
Witteveen-Kolk Syndrome
Polyhydramnios, Proximal placement of thumb, Clinodactyly, Intracranial hemorrhage, Short palm, C... OMIM:613406
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Sandal gap, Polyhydramnios, Cryptorchidism, Abnormal fibula morphology, S... ORPHA:1812
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Eczema, Death in infan... ORPHA:2308
Toriello-Carey Syndrome
Neonatal respiratory distress, Micrognathia, Wide anterior fontanel, Cryptorchidism, Clinodactyly... ORPHA:3338
Dent Disease
Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossification, Rickets, ... ORPHA:1652
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs, Mu... OMIM:610682
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... ORPHA:666
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Wide nasal bridge,... ORPHA:1449
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Joint stiffness, Congestive heart fai... ORPHA:505248
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum... ORPHA:59315
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Radial deviation of the hand, Short metacarpal, Proximal placement of thumb, M... OMIM:268305
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Wide na... OMIM:607330
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Hydrolethalus
Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Abnormality... ORPHA:2189
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Osteoporosis, Eczema, Rickets OMIM:212750
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis, Pulmonary arteri... ORPHA:2396
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchidism, Talipes equino... ORPHA:261236
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respiratory ... OMIM:617248
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Incr... ORPHA:280633
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence of thumb, Aplasia of the... ORPHA:476126
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Micr... ORPHA:731
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Apnea, Micrognathia, Short tibia, Adactyly, Broad first metatars... ORPHA:2751
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Aortic regurgitation, Microretrognathia, Tricuspid regurgitation, Recurrent skin in... OMIM:601776
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Tapered finger, Crypto... OMIM:615873
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta... ORPHA:85170
Cornelia De Lange Syndrome 1
Depressed nasal bridge, Choanal atresia, Anteverted nares, Micromelia, Micrognathia, Cryptorchidi... OMIM:122470
Malan Syndrome
Long fingers, Short nose, Coxa valga OMIM:614753
Toluene Embryopathy
Cryptorchidism, Short nose, Tapered finger, Micrognathia ORPHA:1920
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose, Micrognathia ORPHA:79113
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Rickets ORPHA:79303
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Short nose, Hyper... ORPHA:1358
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Metatarsus adductus, Cryp... OMIM:227330
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi... ORPHA:2719
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Tricuspid regurgitation, Micrognathia, Dyspnea, Dilated cardiomy... ORPHA:2556
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Short nose OMIM:618571
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal ... OMIM:300749
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge, Recurrent pneumonia OMIM:619179
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Central apnea, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndact... ORPHA:522077
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Tapered finger, Clinodactyly, Wide nasal bridge, Clin... ORPHA:319182
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Micromelia ORPHA:64755
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, 4-5 toe syndactyly, Humeroradial synostosis, 2-3 ... OMIM:260660
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Depressed nasal bridge, Sagittal craniosynostosis, Absent thumb, Arach... ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Micrognathia, Cryptor... OMIM:309590
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Abnormal carpal morphology, Limb undergrowth, Severe intrauterine growth retardat... ORPHA:319675
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Lymphedema, Cryptorchidism... ORPHA:1340
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Depressed nasal bridge, Rhizomelia, Craniosynostosis, Polyhydramnios, M... OMIM:613610
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Rickets ORPHA:2088
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Short nose, Contracture of the proximal interphalangeal joint of the 4th toe ORPHA:457279
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
8Q24.3 Microdeletion Syndrome
Respiratory distress, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spina bifi... ORPHA:508488
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... OMIM:601353
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypto... OMIM:613457
Dend Syndrome
Clinodactyly of the 4th finger, Short nose, Anteverted nares, Dehydration ORPHA:79134
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Excessiv... ORPHA:99826
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Missing ribs, Cryptorchidism, Flexion con... OMIM:147791
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L... ORPHA:273
C Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micro... ORPHA:1308
Waardenburg Syndrome Type 1
Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Trisomy 18
Microretrognathia, Choanal atresia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polyd... ORPHA:3380
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypoxemia, Pulmonary arterial ... ORPHA:2282
Joubert Syndrome 21
Apnea, Dyspnea, Single naris, Respiratory failure, Short ribs, Chronic sinusitis OMIM:615636
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Micrognathia, Short foot, Joint hype... ORPHA:1974
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Tapered finger, Absent frontal sinuses, Cryptorchidism,... OMIM:301040
Distal Renal Tubular Acidosis
Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Dehydration, Increased s... ORPHA:18
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognathia, Hydrocele testis, Short n... OMIM:614080
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Anteverted nares, Cryptorchidism, Aortic valve stenosis, Abnormal testis mo... ORPHA:96147
Cadds
Intrauterine growth retardation, Short nose, Micrognathia ORPHA:369942
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Short nose, Joint... OMIM:230740
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Wide nose, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, ... ORPHA:3107
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postaxial polydactyly, Pos... OMIM:605627
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... OMIM:200990
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Micrognathia, Congestive heart failure, Asthma, Small hand, Fibular hypoplasia,... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Respiratory distress, Calcification of the auricular cartilage, Transient ischemic attack, Osteom... ORPHA:51608
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Recurrent pneumonia, Respiratory ... ORPHA:647
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Edema, Rickets ORPHA:309031
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose OMIM:613038
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Microretrogn... OMIM:270400
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Eczema, Broad nasal ti... OMIM:617157
Trisomy 10P
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathi... ORPHA:171929
Leukocyte Adhesion Deficiency Type Ii
Depressed nasal bridge, Palpebral edema, Overlapping toe, Recurrent pneumonia, Depressed nasal ri... ORPHA:99843
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus... OMIM:244450
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Cryptorchidism, Abnormal pelvis bone... ORPHA:93271
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Gout, Death in childhood, Short nose, Convex nasal ridge OMIM:300661
Schinzel-Giedion Syndrome
Respiratory distress, Overlapping fingers, Overlapping toe, Broad nasal tip, Micrognathia, Wide a... ORPHA:798
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand polydactyly, Postaxi... ORPHA:46059
Wilson Disease
Osteomalacia, Edema, Osteoarthritis, Osteoporosis, Pedal edema, Hyposmia, Ascites, Joint hypermob... OMIM:277900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:614207
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Intrauterine growth re... ORPHA:1765
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Joint contracture, Intrauterine gro... OMIM:618460
Distal Deletion 9P
Short nose, Wide nasal bridge, Brachydactyly ORPHA:1642
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Adenylosuccinase Deficiency
Short nose, Anteverted nares OMIM:103050
Zttk Syndrome
Aortic regurgitation, Depressed nasal bridge, Craniosynostosis, Flexion contracture, Small hand, ... OMIM:617140
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Short nose, Micrognathia OMIM:266810
Mesomelic Dysplasia, Savarirayan Type
Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia OMIM:605274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,... OMIM:301044
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... ORPHA:261112
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Polyhydramnios, Short palm, Short nose, Brachydactyly ORPHA:3339
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares OMIM:613735
Pallister-Hall Syndrome
Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,... ORPHA:672
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, Osteoarthritis, Depressed... ORPHA:828
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Depressed nasal bridge, Anteverted nares, Broad hallux, Underdeveloped nasal... OMIM:618332
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Short palm, Neonatal respiratory distress, Anteverted nares, Depressed nasal brid... OMIM:312870
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Hallux valgus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nas... ORPHA:268261
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Apnea, Fetal ascites, Prominent nose, Micrognathia, Flex... OMIM:619503
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent fractures, Osteomalacia, Joint stiffness, Micrognathia, Cryptorchidis... ORPHA:534
Cornelia De Lange Syndrome
Toe syndactyly, Anteverted nares, Choanal atresia, Depressed nasal bridge, Joint stiffness, Micro... ORPHA:199
Cerebrofaciothoracic Dysplasia
Wide nose, Polyhydramnios, Short nose ORPHA:1394
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Anteverted nares, Choanal atresia, Polyhydramnios, Rhizomelia, Micrognathia, C... ORPHA:818
Peters Plus Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognathia, Micromeli... ORPHA:709
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris OMIM:122880
Williams Syndrome
Osteopenia, Myocardial infarction, Micrognathia, Periorbital edema, Clinodactyly of the 5th finge... ORPHA:904
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares OMIM:234050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Tapered fi... OMIM:619522
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Aortic regurgitation, Osteomyelitis, Anteverted nares, Palpebral edema, Congestive ... OMIM:619475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Polyhydramnios, Micromelia, Aplastic clavicle, Postaxial polydactyly, Pre... OMIM:616546
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short middle phalanx of finger, Clinodactyly of the 5th finger, Intrauter... OMIM:301030
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Ayme-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Radioulnar synostosis, C... OMIM:601088
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly OMIM:614800
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Tapered f... OMIM:303600
Ellis Van Creveld Syndrome
Micromelia, Cryptorchidism, Capitate-hamate fusion, Genu valgum, Hand polydactyly, Foot polydacty... ORPHA:289
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Recurrent skin infections, Pneumonia, Bronchiectasis, Art... OMIM:619381
Niemann-Pick Disease Type C
Fetal ascites, Hydrops fetalis, Respiratory insufficiency, Respiratory failure, Aspiration pneumo... ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Sandal gap, Eczema, Broad nasal tip, Long fingers, Asthma, Recurrent pneumonia, Wid... OMIM:620330
Schisis Association
Micromelia ORPHA:63862
Tuberous Sclerosis Complex
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage ORPHA:805
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short ... OMIM:305100
Holoprosencephaly 7
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... OMIM:610828
White-Kernohan Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose OMIM:619426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, ... OMIM:263520
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Joint hypermobility, Broad nasal tip ORPHA:293948
Monosomy 9Q22.3
Joint hyperflexibility, Short nose, Polydactyly ORPHA:77301
Okamoto Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Wide nasal bridg... ORPHA:2729
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly OMIM:600092
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose OMIM:252160
Infantile Nephropathic Cystinosis
Rickets, Dehydration ORPHA:411629
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bridge, Clinodac... ORPHA:1519
Dihydropyrimidine Dehydrogenase Deficiency
Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Anteverted nares, Mic... ORPHA:1675
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Hallux valgus, Anteverted nares, Depressed nasal bridge, Portal hyperte... OMIM:194050
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Micrognathia, Flexion contracture, Camptodactyly of ... OMIM:601803
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Wide nasal bridge, Arthritis, Macroorchidism, Short... ORPHA:93
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Superficial Siderosis
Abnormal bleeding, Partial anosmia, Subarachnoid hemorrhage, Anosmia, Persistent bleeding after t... ORPHA:247245
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Flexion contracture, Genu valgum, Intrauterine growth retardation, Short nose... OMIM:619321
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Micrognathia, Joint stiffness, Cryptorchidism, Short nose OMIM:618820
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Dehydration, Increased susceptibility to fractures ORPHA:3337
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Cryptorchidism, Rickets, Genu valgum, Finger swelling, Pat... OMIM:309000
Cystinosis, Nephropathic
Metaphyseal widening, Rickets, Dehydration, Genu valgum, Hypophosphatemic rickets OMIM:219800
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Pruritus, Short toe, Asthma, Cone-shaped epiphyses of the pha... OMIM:619269
Yellow Fever
Abnormal bleeding, Shock, Skin rash, Supraventricular arrhythmia, Excessive bleeding after a veni... ORPHA:99829
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Narrow nasal ridge, Hypertension, Pleural effu... OMIM:606721
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Narrow nasal bridge, Telangiectasia of the skin, Transient ischemic attack, Cr... ORPHA:286
Frontofacionasal Dysplasia
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae OMIM:229400
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Penile Agenesis
Depressed nasal bridge, Cryptorchidism, Bilateral talipes equinovarus, Short nose, Oligohydramnios ORPHA:49

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 Mia3

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 Mia3.

No publications found that use IMPC mice or data for Mia3.

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MGI Allele Allele Type Produced
Mia3em1(IMPC)Ccpcz Inter-exon deletion Mice

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