Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... |
OMIM:214300 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Isolated Klippel-Feil Syndrome |
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Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Conductive Deafness-Malformed External Ear Syndrome |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Flexion contracture, High palate, ... |
OMIM:616549 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... |
OMIM:118100 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... |
ORPHA:370010 |
Lethal Congenital Contracture Syndrome 3 |
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Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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Respiratory distress |
ORPHA:2680 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused c... |
ORPHA:2522 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Mucopolysaccharidosis, Type Ix |
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Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Periarticular soft... |
OMIM:601492 |
Frontometaphyseal Dysplasia 1 |
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Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In... |
OMIM:305620 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Perching Syndrome |
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Respiratory distress, Dysphagia, High palate, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Posteriorly rotated ears, Short neck, Dyspnea, Gingival fibromatosis, Gingi... |
ORPHA:1832 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly,... |
ORPHA:2759 |
Thrombocytopenia-Absent Radius Syndrome |
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Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger... |
ORPHA:3320 |
Developmental And Epileptic Encephalopathy 30 |
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Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Muscular Hypertonia, Lethal |
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Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Hyperactivity, Lumbar hyperlordosis, Asymmetry of the ears, Sensorineural hearing impairment, Pic... |
OMIM:617796 |
Arthrogryposis, Distal, Type 1C |
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Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Short neck, Campt... |
OMIM:619110 |
Carey-Fineman-Ziter Syndrome 2 |
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Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, High, narrow palate, Velopha... |
OMIM:619941 |
Acrocraniofacial Dysostosis |
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Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, Triphalangeal ... |
ORPHA:949 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Absent tragus, Accessory oral frenulum, Preaxial hand polydactyly, Overfolded helix, Cleft palate... |
ORPHA:79113 |
Kbg Syndrome |
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Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne... |
OMIM:265000 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set ears, Camptodactyl... |
OMIM:617333 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
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Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Distal Deletion 17Q |
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Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... |
ORPHA:1597 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... |
OMIM:618000 |
Deafness, Conductive, With Malformed External Ear |
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Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Congenital Disorder Of Glycosylation, Type Iy |
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Joint dislocation, Respiratory distress, Wide mouth, Widely spaced teeth, Scoliosis, Clinodactyly... |
OMIM:300934 |
Atelosteogenesis, Type I |
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Laryngeal stenosis, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death... |
OMIM:108720 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Increased bone mineral density, Sandal gap, Anodontia, Proximal placeme... |
ORPHA:90650 |
Diaphanospondylodysostosis |
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Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Sifrim-Hitz-Weiss Syndrome |
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Tapered finger, Cupped ear, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebra... |
OMIM:617159 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Dental crowd... |
OMIM:614669 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Stapes ankylosis, Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal in... |
OMIM:614701 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border... |
ORPHA:530983 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia,... |
ORPHA:1826 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po... |
ORPHA:2916 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
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Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
Lateral Meningocele Syndrome |
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Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Dental crowding, Hyperlordosis,... |
ORPHA:2789 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Short neck, Kyphosis, High palate... |
OMIM:618393 |
Succinic Acidemia |
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Respiratory distress |
OMIM:600335 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... |
OMIM:185800 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... |
OMIM:619227 |
Zimmermann-Laband Syndrome 3 |
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Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Thick lower lip verm... |
OMIM:618658 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Microtia,... |
OMIM:239800 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
Acrodysplasia Scoliosis |
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Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Aarskog-Scott Syndrome |
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Genu recurvatum, Short neck, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:915 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Aplasia of the epiglottis, Protruding ear, High palate, Clinodactyly... |
OMIM:268305 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Velopharyngeal insufficiency, High palate, Low-set ears |
OMIM:608363 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Protruding ear, Tibial bowing, Reduced bone mineral density, High palate, ... |
ORPHA:93315 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatars... |
OMIM:617137 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in... |
OMIM:201550 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... |
OMIM:312150 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Cleft palate, Abnormal v... |
ORPHA:2015 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment |
ORPHA:2291 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Neonatal respi... |
OMIM:602471 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... |
ORPHA:87 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... |
ORPHA:2010 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Posteriorly rotated ears, Accelerated skeletal matura... |
OMIM:617190 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Cleft palate, Upper airway obstruct... |
ORPHA:141152 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... |
ORPHA:3236 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Ankle clonus, Sensorineural hearing impairment, Bifid uvula, Cleft palate |
OMIM:618768 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati... |
OMIM:183900 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft... |
ORPHA:52429 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Short neck, Abnormali... |
OMIM:157900 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Sensorineural hearing impairment, Submuco... |
OMIM:108300 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Wormian bones, Posteriorly rotated ears, Dental crowding, Shor... |
OMIM:130720 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect |
OMIM:618845 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic oti... |
OMIM:101200 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Clinodactyly, Cleft lip, Limited pronation/su... |
ORPHA:1724 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum,... |
OMIM:184260 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Smith-Magenis Syndrome |
|
Brachydactyly, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Abnormal... |
OMIM:182290 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydac... |
OMIM:258850 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swel... |
OMIM:612852 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Protruding ear, Microdontia,... |
OMIM:613458 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... |
OMIM:617088 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Short neck, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof,... |
OMIM:151210 |
Temple Syndrome |
|
Posteriorly rotated ears, Flexion contracture, Small hand, Cleft palate, Short foot, High palate,... |
OMIM:616222 |
Cri-Du-Chat Syndrome |
|
Short neck, Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short ph... |
OMIM:123450 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Death in infancy, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears,... |
OMIM:618622 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of... |
OMIM:141400 |
Otofaciocervical Syndrome |
|
Down-sloping shoulders, Delayed skeletal maturation, Protruding ear, Abnormal antihelix morpholog... |
ORPHA:2792 |
Thakker-Donnai Syndrome |
|
Posteriorly rotated ears, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corner... |
ORPHA:1780 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Conduc... |
OMIM:609053 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the dentition, Celiac disea... |
ORPHA:576283 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, High, narrow palate, Conductive hearing impairment, Anodontia, Sh... |
ORPHA:2980 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Coxa... |
ORPHA:166272 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Dysphagia, Cough |
ORPHA:77260 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Hip d... |
OMIM:611890 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, High, narrow palate, Sensorineural hearing impairment, Long fingers,... |
OMIM:604841 |
Kleefstra Syndrome 2 |
|
Kyphosis, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uvula |
OMIM:617768 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Mesomelia-Synostoses Syndrome |
|
High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5t... |
ORPHA:2496 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi... |
ORPHA:1145 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Delayed skeletal maturation, Rib fu... |
OMIM:157800 |
Chops Syndrome |
|
Hearing impairment, Tracheomalacia, High, narrow palate, Downturned corners of mouth, Aspiration ... |
OMIM:616368 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Sma... |
OMIM:618089 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Cleft upper lip, Aggressive behavior, Cleft palate, Scoliosis, Bifid uvula, Hearin... |
OMIM:300958 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Vertigo, Fused cervical vertebrae, Adult ons... |
ORPHA:268882 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum, Scoliosis, N... |
ORPHA:96184 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Aganglionic megacolon, Sandal gap, Short humer... |
OMIM:607323 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Narrow greater sciatic notch, Abnorm... |
ORPHA:93316 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Hyperlordosi... |
ORPHA:2780 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Sensorineural hearing impairment, Cleft palate, Absent stape... |
OMIM:301022 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Thin upper lip vermilion, Neonatal respiratory distress, ... |
OMIM:615042 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... |
ORPHA:1143 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Kyphosis, Deep philtrum,... |
ORPHA:404440 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Hyperlordosis, Long fingers, Respiratory insufficiency, Protruding ear, High pal... |
ORPHA:169186 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... |
OMIM:613686 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Kyphosi... |
OMIM:211530 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Cu... |
OMIM:224690 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Thin upper lip vermilion, Short neck, Hemivertebr... |
OMIM:615583 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia... |
ORPHA:444077 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Dental crowdi... |
ORPHA:137888 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Prominent fingertip pads, Cholesteatoma |
OMIM:614113 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Anteriorly ... |
OMIM:601390 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif... |
OMIM:615777 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Congenital hip dislocation, Rocker bottom foot, Pyloric stenosis, Short 5th finger, Atresia of th... |
OMIM:133705 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Short neck, Sensorineural hearing impairment, Supernumerary tooth, Gingival fibrom... |
ORPHA:3473 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Short palm, Thoracic hemi... |
OMIM:268310 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Kbg Syndrome |
|
Tented upper lip vermilion, Short neck, Protruding ear, Widely-spaced maxillary central incisors,... |
OMIM:148050 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... |
OMIM:113650 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment |
OMIM:615993 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Attention deficit hyperactivity disorder |
OMIM:300850 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Abnormality of the dentition, Clinodactyly of the 5th finger, Atresia of the external auditory ca... |
OMIM:221320 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Joint stiffness, Non-midline ... |
ORPHA:245 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed an... |
ORPHA:798 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... |
OMIM:150250 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,... |
ORPHA:264450 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Pr... |
OMIM:610443 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Overfriendliness, Median cleft lip, Aganglionic megacolon, Sandal gap, ... |
OMIM:174300 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... |
ORPHA:90652 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Flared metaphysis,... |
ORPHA:93346 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal... |
OMIM:611209 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Delayed skeletal maturation, F... |
OMIM:619383 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Ankle clonus, Bifid uvula, Cleft palate |
ORPHA:506353 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif... |
OMIM:184400 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac... |
OMIM:619981 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,... |
ORPHA:884 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Sh... |
ORPHA:434179 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Tapered finger, Sensorineural hearing impairment, Flexion con... |
ORPHA:544503 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Otitis ... |
ORPHA:581 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Marshall Syndrome |
|
Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper... |
OMIM:154780 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, High palate, Cough, Bif... |
ORPHA:96170 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Dow... |
OMIM:618779 |
Coxoauricular Syndrome |
|
Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pelvic girdle ... |
ORPHA:1508 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... |
ORPHA:2004 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Abnormal pinna morphology, Postaxial polydactyly, Postaxial hand polydactyly, Clef... |
OMIM:614175 |
Temple Syndrome |
|
Small hand, Short foot, Scoliosis, Clinodactyly of the 5th finger, Polyphagia, Bifid uvula |
ORPHA:254516 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Anteriorly ... |
OMIM:615546 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Elsahy-Waters Syndrome |
|
Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid uvula, Abnormality of the... |
OMIM:211380 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Posteriorly rotated ears, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial ha... |
OMIM:615948 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, High, narrow palate, Anotia, Clinodactyly of the 5th finger, Bifid uvula, M... |
ORPHA:2554 |
Auriculocondylar Syndrome 3 |
|
Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis of the externa... |
OMIM:615706 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Low-set ears, Narrow mou... |
OMIM:612776 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft palate, 2-4 finge... |
OMIM:617746 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Knee flexion contracture, Overlapping... |
OMIM:616531 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Long fingers, Macrotia, Flexion contracture, High palate, Arthrogryposis multipl... |
OMIM:601110 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Alg3-Cdg |
|
Osteopenia, Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morpholog... |
ORPHA:79321 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Prominent fingertip pads, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermi... |
OMIM:617412 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Stapes ankylosis, Prominent metopic ridge, Hallux valgus, Broad hallux... |
OMIM:614188 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Osteopathia striata, Craniofacial osteosclerosis, High palate, Conductive... |
OMIM:300373 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Arachnodactyly, Overlapping toe, Pyloric stenosis, Contracture of the dista... |
ORPHA:83617 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate... |
OMIM:619314 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Native American Myopathy |
|
Joint laxity, Conductive hearing impairment, Cleft palate, Abnormal curvature of the vertebral co... |
ORPHA:168572 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... |
OMIM:184705 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Thoracolumbar scoliosis, Short neck, Lop ear, Sensorineural hearing imp... |
OMIM:300472 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Kyphosis, Posterior rib gap, Cle... |
ORPHA:1393 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Smooth philtrum, Sacral dimple, Respiratory distress, Posteriorly rotated ears, Pos... |
OMIM:300968 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Conductive hearing impairment, Calvarial osteosclerosis, Cleft soft... |
OMIM:616331 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Self-mutilation,... |
OMIM:213980 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly |
ORPHA:1445 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Protruding ear, Thin vermilion border, Short p... |
OMIM:608572 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adduct... |
OMIM:227330 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Short neck, Sensorineural hearing impairment, Alveolar ridge overgrowth, Cleft... |
OMIM:612938 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E... |
ORPHA:199302 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior... |
OMIM:114290 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck... |
OMIM:620369 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Kyphosco... |
OMIM:309583 |
Myhre Syndrome |
|
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor... |
OMIM:139210 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Carious teeth, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing i... |
OMIM:606164 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, D... |
OMIM:619121 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Proxi... |
OMIM:217980 |
Radio-Renal Syndrome |
|
Respiratory distress, Short neck, High, narrow palate, Dyspnea, Hypoplasia of the radius, Abnorma... |
ORPHA:3015 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, ... |
ORPHA:98914 |
Crouzon Syndrome |
|
Dental crowding, Sagittal craniosynostosis, High palate, Atresia of the external auditory canal, ... |
OMIM:123500 |
White-Sutton Syndrome |
|
Short neck, Downturned corners of mouth, High palate, Short philtrum, Tics, Abnormal repetitive m... |
OMIM:616364 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Esophageal atresia, Preaxial hand polydactyly,... |
OMIM:610536 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, De... |
OMIM:613848 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Abnormal fi... |
ORPHA:314585 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conduct... |
OMIM:202650 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Genu recurvatum, Accelerated skeletal maturation, Flexion contract... |
OMIM:130070 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly... |
OMIM:154400 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ... |
ORPHA:536532 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Downturned corners of mouth, Short philtrum, Conductive ... |
OMIM:601808 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger c... |
OMIM:164220 |
Caudal Regression Syndrome |
|
Impulsivity, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing... |
ORPHA:3027 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Accelerated skeletal maturation, Generalized osteosclerosis, Macroglossia, ... |
ORPHA:1423 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Delayed skeletal maturation, Non-... |
ORPHA:1770 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Femo... |
OMIM:616482 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Short thumb, Osteoporosis, Cleft palate, Atresia of the external auditory canal, Esop... |
OMIM:612562 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Median cleft lip... |
ORPHA:2213 |
Tetrasomy 5P |
|
Respiratory distress, Posteriorly rotated ears, Overlapping toe, Short hallux, Short neck, Long f... |
ORPHA:3309 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Bresek Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Protruding ear, S... |
ORPHA:85284 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:615942 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Conductive... |
ORPHA:3238 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck, Tapered finger, Narrow mouth, Carious teeth, Dyspnea, Elbow flexion c... |
OMIM:272430 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radi... |
OMIM:617895 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough |
ORPHA:142 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Respiratory insufficiency, High palate, Narrow mouth, Bifid uvula |
OMIM:615959 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Cleft palate |
OMIM:300946 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Bruxism, Cleft palate, Furrowed tongue, Do... |
ORPHA:453499 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Cleft palate, Microtia, Atresia of the external a... |
OMIM:613309 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment... |
ORPHA:2751 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Sensorineural hearing impairment, Submucous cleft hard palate, Incomplete ... |
OMIM:617660 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Microtia, Hand polydactyl... |
ORPHA:2316 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Eruption failure, High palate, Sh... |
OMIM:166250 |
Neuhauser Syndrome |
|
Osteopenia, Genu recurvatum, Arachnodactyly, Cupped ear, Dysphagia, Genu valgum, Large fleshy ear... |
OMIM:249310 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... |
OMIM:117650 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Cleft soft palate, Broad hallux, Sandal gap, Abnormality of the dentiti... |
OMIM:618529 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... |
OMIM:200990 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Hiatus hernia, Malabsorption, Missing ribs, Cleft upper li... |
ORPHA:50 |
Tonne-Kalscheuer Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Dysphagia, Downturned corners of mouth, Self-i... |
OMIM:300978 |
Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Narrow mouth, Submucous cleft hard palate, Abnormal rib morpholog... |
ORPHA:2588 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Abnormal pinna morpho... |
OMIM:607143 |
Esophageal Atresia |
|
Subglottic stenosis, Respiratory distress, Clinodactyly, Abnormality of the ear, Aspiration, Abno... |
ORPHA:1199 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Hyperactivity, Abnormality of the dentition, Wide mouth, Thick vermilion border, Clin... |
OMIM:618505 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Cl... |
OMIM:146510 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Brachydactyly, Narrow internal auditory canal, Short neck, Exter... |
ORPHA:233 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Sensorineural hearing impairment, Achilles tendon contracture |
ORPHA:2596 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Dysphagia, Respirat... |
OMIM:620278 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Abnormality of the dentition, Prominent antihelix, Wide mouth, Inappropriate laughter... |
OMIM:615802 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... |
ORPHA:2658 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ... |
ORPHA:959 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Short neck, Cupped ear, Shortening of all dist... |
ORPHA:247262 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Underfolded helix, Cleft soft palate, Broad hallux, Type A brachydactyly, Accesso... |
OMIM:620107 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistenc... |
ORPHA:97360 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl... |
OMIM:616580 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Down-slo... |
OMIM:109400 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Thin ribs, High palate, Neonatal death, Joint hypermobility |
OMIM:300219 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Sens... |
ORPHA:261236 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth, Short philtr... |
OMIM:194190 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Short neck, Orofacial cleft, Atresia of the ext... |
ORPHA:2328 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Low-set ears, Dysphagia, Adducted thumb |
ORPHA:89844 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... |
OMIM:612863 |
Loeys-Dietz Syndrome 5 |
|
Smooth philtrum, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Kyphoscoliosis, H... |
OMIM:615582 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Short neck, Upper limb peromelia, Anteriorly placed anus, Downturned corners of... |
ORPHA:1299 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment |
OMIM:251800 |
Episodic Ataxia Type 1 |
|
Vertigo, Kyphoscoliosis, Respiratory distress, Scoliosis |
ORPHA:37612 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hi... |
OMIM:614816 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Narrow mouth, Postaxial... |
ORPHA:261112 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Smooth philtrum, Respiratory distress, Ankle flexion contracture, High, narrow palate, Small hand... |
OMIM:608799 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Microtia, Anotia, Atresia o... |
ORPHA:268249 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Downtu... |
OMIM:301030 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Delayed skeletal matur... |
OMIM:241410 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Dental crowding, Ankle flexion contracture, Pneumothorax, Elbow flexion... |
OMIM:618175 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive he... |
OMIM:608257 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Posteriorly rotated ears, Overlapping toe, Craniosynostosis, G... |
OMIM:123790 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear... |
OMIM:218600 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta... |
OMIM:300990 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li... |
ORPHA:98915 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short m... |
ORPHA:3404 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Tracheomalacia, Metatarsus adductus, Repetitive compulsive behavior,... |
ORPHA:513456 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft... |
ORPHA:2189 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Macrotia, Short philtrum |
ORPHA:261304 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid u... |
OMIM:616145 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, Accelerated skeletal maturation, High, narrow palate, Ver... |
ORPHA:373 |
Birk-Barel Syndrome |
|
Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous clef... |
OMIM:612292 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Broad hallux, Underdeveloped superior crus of antihelix, Overlapping toe, Congenital sensorineura... |
ORPHA:293967 |
Marden-Walker Syndrome |
|
Posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus ad... |
ORPHA:2461 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, Velopharyngeal insufficiency, 2-3 toe ... |
OMIM:129400 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s... |
OMIM:602535 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Respiratory distress, Deep philtrum, Dental malocclusion, C... |
ORPHA:329178 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, ... |
ORPHA:1555 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short neck, Downturned corners of mouth, High palate, Compulsive behaviors,... |
ORPHA:177907 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa v... |
ORPHA:3342 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Velopharyngeal ins... |
ORPHA:363444 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Esophageal atresia, Sensorineural hearing impairment, Hemivertebr... |
OMIM:206900 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bo... |
ORPHA:138 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Low-set ears,... |
ORPHA:1790 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Macrotia, Atresia of the external auditory canal, Narrow mouth |
OMIM:245552 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Respiratory distress, Posteriorly rotated ears, De... |
ORPHA:79329 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingi... |
ORPHA:2753 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Antecubital pterygium, Low-set ears, Arthrogryposis multiplex congenita, Bifi... |
OMIM:616258 |
Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... |
OMIM:301018 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Widel... |
OMIM:106260 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Death in infancy, Dysphagia |
ORPHA:178481 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Fragile te... |
ORPHA:2959 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Hyperactivity, Carious teeth, Velopharyngea... |
OMIM:223370 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hearing impairment |
OMIM:616733 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Downturn... |
ORPHA:79500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Respiratory insufficiency, Short long bone, N... |
OMIM:224410 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Abnormal tibia morphology, Osteoarthr... |
ORPHA:666 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Submucous cleft hard palate, Flexion contr... |
ORPHA:2671 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Lumbar hemivertebrae, Cl... |
OMIM:619859 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
W Syndrome |
|
Hypoplasia of the ulna, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus adductus, Submu... |
ORPHA:2804 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Narrow mouth, Microglossia, Narrow inter... |
ORPHA:990 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary gland ... |
ORPHA:2363 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palate, Sho... |
OMIM:617140 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Short neck, Aggressive behavior, Tooth malposition, Upper... |
ORPHA:529962 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper li... |
ORPHA:2707 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Arachnodactyly, Hiatus hernia, Flexion contracture, High palate, Scoliosis, Long ph... |
OMIM:208050 |
Adnp Syndrome |
|
Respiratory distress, Oral-pharyngeal dysphagia, Abnormal finger morphology, Protruding ear, Comp... |
ORPHA:404448 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Mesomelia-Synostoses Syndrome |
|
Progressive forearm bowing, Short metatarsal, Tibial bowing, Carpometacarpal synostosis, Short fo... |
OMIM:600383 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Otitis media, Cough, Pleural effusion |
ORPHA:3392 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Metata... |
ORPHA:35107 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Short metatarsal, High palate, Widely spaced teeth, Clinodactyly of the 5... |
OMIM:266920 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Short neck... |
OMIM:617506 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent... |
OMIM:618188 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, External ear malforma... |
ORPHA:438216 |
Treacher Collins Syndrome 2 |
|
Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impairment |
OMIM:613717 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphology, Abnormality of the... |
ORPHA:2673 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Pyloric stenosis, Dyspnea, Osteoporosis, Gingival... |
ORPHA:363705 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Short neck, Rectal atresia, Cutaneous syndactyly, Respiratory failure, At... |
OMIM:617666 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Delayed sk... |
ORPHA:1435 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Microtia, Everted lower lip ... |
OMIM:608013 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Duplication of thumb phalanx, Short neck, Tarsal synostosis, Accessory oral fr... |
ORPHA:2756 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Coffin-Siris Syndrome 12 |
|
Protruding ear, High palate, Abnormal repetitive mannerisms, Simple ear, Joint laxity, Short thum... |
OMIM:619325 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Dental crowding, Orofacial cleft, Vertebral segmentation... |
ORPHA:2052 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Malabsorption |
OMIM:240300 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Apnea |
ORPHA:79097 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Downturned corners of mouth, Severe sensorineural hearing imp... |
OMIM:620186 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, D... |
ORPHA:100050 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Clinodactyly of t... |
OMIM:607872 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ... |
ORPHA:3206 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de... |
ORPHA:83463 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ... |
OMIM:606851 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Obsessive-compulsive trait, Dysphagia |
OMIM:160900 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Bifid uvula |
OMIM:612561 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H... |
ORPHA:480880 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Short neck, Protruding ear, High palate, Abnormal repetitive mannerisms, Bifid uvula, Joint laxit... |
OMIM:620330 |
Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Submucous cleft hard palate, Cleft palate, Protruding ear, Low-set ears... |
ORPHA:899 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Smooth philtrum, Villous atrophy, Prominent metopic ridge, Thi... |
ORPHA:79328 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Hiatus hernia, Missing ribs, Cleft upper lip, Recur... |
OMIM:304050 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Brachydactyly, Extra concha fold, Velopharyngeal insufficiency, Dental... |
OMIM:209885 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Bruxism |
ORPHA:93958 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Posteriorly rotated ears, Exaggerated cupid's bow, Tapered finger, Narrow mouth, Cupped ear, Thic... |
OMIM:619480 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Clubbing, Recurrent ... |
OMIM:617303 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Short neck, Long philtrum, Adducted thumb |
ORPHA:50810 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, High, narrow palate, Flexion contracture, High palate, Hyp... |
OMIM:180849 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia |
ORPHA:79312 |
Tetrasomy 9P |
|
Joint dislocation, Glue ear, Dental crowding, Short neck, Downturned corners of mouth, Inappropri... |
ORPHA:3310 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Conductive hearing impairment, Abnormal repetitive mannerisms, ... |
ORPHA:580 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment, Dysphagia |
OMIM:620166 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Short tibia, Hama... |
OMIM:617925 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Raine Syndrome |
|
Short neck, Protruding ear, High palate, Microdontia, Neonatal death, Long hallux, Death in infan... |
OMIM:259775 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otiti... |
OMIM:616268 |
Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Sensorineural hearing impairmen... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Sensorineural hearing impairmen... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Sensorineural hearing impairmen... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Sensorineural hearing impairmen... |
ORPHA:93924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Advanced eruption of teeth, Oral ... |
ORPHA:2309 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Short neck, Protruding ear, High palate, Widely spaced teeth, Prominent fingertip pads, Clinodact... |
OMIM:612474 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the l... |
OMIM:619708 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con... |
OMIM:300166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Downturned corners of mouth, High palate, Widely spaced ... |
ORPHA:199 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Wide... |
OMIM:619950 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl... |
OMIM:620183 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... |
OMIM:618733 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue... |
OMIM:269860 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema, Bifid uvul... |
ORPHA:500150 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck,... |
ORPHA:508488 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Underdeveloped tragus, Cleft upper lip, Sensorineural hearing impairment, Partia... |
OMIM:164210 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Bifid uvula, Paroxysmal bursts of laughter, Low-set, posteriorly rotated ears, Mes... |
ORPHA:672 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thi... |
ORPHA:217085 |
Ring Chromosome 7 Syndrome |
|
Prominent crus of helix, Slender finger, Narrow mouth, Small hand, Cleft palate, Genu valgum, Thi... |
ORPHA:1449 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thi... |
ORPHA:217093 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Rectal prolapse, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, High palate, Widely spa... |
OMIM:303600 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... |
ORPHA:293725 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Abnormal pinna morphology, Respiratory distress |
OMIM:231680 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Osteoporosis, Small hand, Short fo... |
OMIM:615273 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Thick vermilion border, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... |
OMIM:608670 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Emphy... |
OMIM:619472 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Bifid uvula, Self-mut... |
OMIM:270400 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... |
OMIM:119500 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing im... |
ORPHA:466943 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Congenital Disorder Of Glycosylation, Type It |
|
Dyspnea, Pierre-Robin sequence, Cleft palate, Recurrent otitis media, Pulmonary arterial hyperten... |
OMIM:614921 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cupped e... |
OMIM:181270 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Protruding ear, High ... |
OMIM:619475 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Short neck, Hypoxemia, Microtia, Submucous cleft soft palate, Pulmonary arteri... |
ORPHA:2282 |
Rodrigues Blindness |
|
Tooth malposition, Nasal flaring, Protruding ear |
OMIM:268320 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal thumb, Clinod... |
ORPHA:84 |
Pai Syndrome |
|
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology |
ORPHA:1993 |
Digeorge Syndrome |
|
Pilonidal sinus, High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia,... |
OMIM:188400 |
Meester-Loeys Syndrome |
|
Joint dislocation, Arachnodactyly, Gingival overgrowth, Cervical spine instability, High palate, ... |
OMIM:300989 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral ... |
ORPHA:1051 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Absent tragus, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasi... |
OMIM:603457 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Abnormality of th... |
OMIM:192430 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri... |
OMIM:306955 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Delayed skeletal maturation, Cupped ... |
ORPHA:264200 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Bilateral sensorineural hear... |
ORPHA:2306 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Clinodactyly of the 5th finger, Conductive hearing impai... |
OMIM:113620 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment |
ORPHA:254913 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Laryng... |
OMIM:219000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lum... |
ORPHA:505248 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morphology, Atresia... |
OMIM:154500 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Atresia of the external auditor... |
ORPHA:1231 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Genu recurvatum, Tapered finger, Unilater... |
OMIM:619539 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... |
ORPHA:228123 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion |
OMIM:613680 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli... |
ORPHA:284984 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, C... |
ORPHA:1071 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Submucous cleft hard palate, Abnormal antiheli... |
ORPHA:3047 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Cleft upper lip, Cleft palate, Congenital contracture, Microtia, Atresia of the external auditory... |
OMIM:236670 |
Infantile Krabbe Disease |
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Respiratory distress, Prolonged brainstem auditory evoked potentials, Ankle clonus, Respiratory f... |
ORPHA:206436 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Otosclerosis 1 |
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Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Farber Disease |
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Respiratory distress, Abnormality of the knee, Short toe, Abnormality of the elbow, Flexion contr... |
ORPHA:333 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Avascular necrosis of the capital femoral epiphysis, Wide mouth, Microtia, Low-s... |
OMIM:222470 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Cleft soft... |
OMIM:614557 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Internally rotated shoulders, Dental crowding, Apnea, De... |
OMIM:619503 |
Loeys-Dietz Syndrome 6 |
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Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... |
OMIM:619656 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
Carnitine Deficiency, Systemic Primary |
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Respiratory distress |
OMIM:212140 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Thumb contracture, Up... |
OMIM:607932 |
Loeys-Dietz Syndrome |
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Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Orofacial cleft, Jo... |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Tented upper lip vermilion, Short neck, Flexion contracture, Anterior... |
OMIM:601803 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Respiratory distress, Stridor |
OMIM:615595 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Sensorineural heari... |
ORPHA:17 |
Listeriosis |
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Back pain, Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Respiratory f... |
ORPHA:533 |
Congenital Tracheal Stenosis |
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Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Abnormal toe morphology, Kyphosi... |
ORPHA:268261 |
Otosclerosis 4 |
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Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Amish Lethal Microcephaly |
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Death in infancy, Cleft soft palate, Limitation of joint mobility, Osteoporosis, Decreased skull ... |
ORPHA:99742 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Craniosynostosis, Posta... |
OMIM:609192 |
Sacral Agenesis With Vertebral Anomalies |
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Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... |
OMIM:615709 |
Chromosome 17Q12 Duplication Syndrome |
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Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Ablepharon Macrostomia Syndrome |
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Toe syndactyly, Camptodactyly of finger, Wide mouth, Microtia, Thin vermilion border, Atresia of ... |
ORPHA:920 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Flexion contractu... |
ORPHA:261537 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infilt... |
OMIM:610168 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Hearing impairment, Dyspn... |
ORPHA:2556 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Respiratory distress, Pulmonary embolism, Low-set ears, Stomatitis, Pulmonary arterial hypertensi... |
ORPHA:79282 |
Mowat-Wilson Syndrome |
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Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Flexion contractu... |
ORPHA:2152 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, Aggressive behavior, Impulsivity, K... |
OMIM:300967 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Joint laxity, Broad hallux, Arachnodactyly, Dental malocclusion, High palate, Short finger, Cubit... |
OMIM:601552 |
Japanese Encephalitis |
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Respiratory distress, Stiff neck, Genu recurvatum, Anorexia, Elbow flexion contracture, Respirato... |
ORPHA:79139 |
Idiopathic Hypereosinophilic Syndrome |
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Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling, Malabsorption,... |
ORPHA:3260 |
Otosclerosis 10 |
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Otosclerosis |
OMIM:615589 |
Cryptococcosis |
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Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Abn... |
ORPHA:1546 |
Diamond-Blackfan Anemia |
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Cleft soft palate, Short neck, Absent thumb, Short thumb, Partial duplication of thumb phalanx, C... |
ORPHA:124 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Bifid Uvula |
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Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr... |
OMIM:613795 |
Lymphatic Malformation 7 |
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Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Respiratory distress |
OMIM:251000 |
Biotinidase Deficiency |
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Respiratory distress, Apnea, Hearing impairment, Sensorineural hearing impairment, Hyperventilation |
ORPHA:79241 |
Orofacial Cleft 13 |
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Oligodontia, Cleft soft palate |
OMIM:613857 |
Bacterial Toxic-Shock Syndrome |
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Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis |
ORPHA:36234 |
Toxic Epidermal Necrolysis |
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Respiratory distress, Cough, Restrictive ventilatory defect, Dysphagia, Polydipsia |
ORPHA:537 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Nocardiosis |
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Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Lujo Hemorrhagic Fever |
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Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia |
ORPHA:319213 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Flexion contractu... |
ORPHA:261552 |
Isolated Arrhinia |
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Respiratory distress, Microtia, Absent nasal septal cartilage |
ORPHA:1134 |
Plague |
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Respiratory distress, Chapped lip, Anorexia, Abnormality of the elbow, Enterocolitis, Acute infec... |
ORPHA:707 |
3-Methylglutaconic Aciduria, Type Viib |
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Respiratory distress, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Congenital Enterovirus Infection |
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Respiratory distress, Pleural effusion |
ORPHA:292 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology... |
ORPHA:79404 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea |
OMIM:115197 |
Hemorrhagic Fever-Renal Syndrome |
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Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, C... |
ORPHA:340 |
Sotos Syndrome |
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Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Conductive hearing ... |
ORPHA:821 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Pneumonia, Anorexia, Ora... |
OMIM:619381 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation |
ORPHA:90068 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Downturned corners of mouth, Sh... |
ORPHA:3455 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Respiratory distress, Pneumothorax |
OMIM:620306 |
Q Fever |
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Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion |
ORPHA:781 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Interstitial pne... |
ORPHA:37042 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Dysphagia, Hyper... |
ORPHA:255210 |
Hardikar Syndrome |
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Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esop... |
OMIM:301068 |
Scimitar Syndrome |
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Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... |
ORPHA:185 |
Gitelman Syndrome |
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Respiratory distress, Salt craving, Vertigo, Gout, Polydipsia, Tinnitus, Chondrocalcinosis |
ORPHA:358 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Methylmalonic Aciduria, Cblb Type |
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Respiratory distress |
OMIM:251110 |
Holoprosencephaly 2 |
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Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral cleft lip and palate, Scoli... |
OMIM:157170 |
Beckwith-Wiedemann Syndrome |
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Otosclerosis, Prominent metopic ridge, Accelerated skeletal maturation, Wide anterior fontanel, A... |
ORPHA:116 |
Holoprosencephaly 3 |
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Solitary median maxillary central incisor, Cleft lip, Bifid uvula, Cleft palate |
OMIM:142945 |
Sepsis In Premature Infants |
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Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
Cleft Soft Palate |
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Cleft soft palate |
OMIM:119570 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Ethylene Glycol Poisoning |
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Tachypnea, Addictive alcohol use, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Tuberous Sclerosis Complex |
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Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Thin upper lip vermilion, Multiple joint contractures, Abnormal pinna m... |
ORPHA:79318 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress |
OMIM:274150 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy |
OMIM:617156 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress |
OMIM:251100 |
Colchicine Poisoning |
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Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow mouth, Macrotia |
OMIM:614748 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Macroglossia, Pleural effusion, Apnea |
OMIM:261740 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... |
OMIM:256810 |
Frontofacionasal Dysplasia |
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Orofacial cleft, Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip |
OMIM:229400 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea |
ORPHA:2330 |
Aprosencephaly And Cerebellar Dysgenesis |
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Bifid uvula, Craniosynostosis |
OMIM:601374 |
Alström Syndrome |
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Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal matur... |
ORPHA:64 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Eisenmenger Syndrome |
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Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Vertigo, Clubbing, Hypox... |
ORPHA:97214 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Cervical ribs, Intestinal malrotation |
ORPHA:2255 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Leptospirosis |
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Respiratory distress, Pleural effusion, Anorexia, Cough |
ORPHA:509 |
Craniorachischisis |
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Bifid sternum, Anal atresia |
ORPHA:63260 |
Liver Disease, Severe Congenital |
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Joint laxity, Chronic gastritis, Pneumonia, Protein-losing enteropathy, Cough, Recurrent otitis m... |
OMIM:619991 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |