Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
teashirt zinc finger family member 1
Synonyms:
NY-CO-33,  Sdccag33,  Tsh1,  5730407I04Rik,  D18Bwg1409e,  Mtsh1,  teashirt1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tshz1 mutations

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

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

The table below shows human diseases associated to Tshz1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842

The table below shows human diseases predicted to be associated to Tshz1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Posterior fusion of lumbosacral vertebrae OMIM:192800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... OMIM:214300
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... OMIM:184460
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Conductive Deafness-Malformed External Ear Syndrome
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
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Flexion contracture, High palate, ... OMIM:616549
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... OMIM:118100
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... ORPHA:370010
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused c... ORPHA:2522
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Periarticular soft... OMIM:601492
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In... OMIM:305620
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Perching Syndrome
Respiratory distress, Dysphagia, High palate, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Short neck, Dyspnea, Gingival fibromatosis, Gingi... ORPHA:1832
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly,... ORPHA:2759
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger... ORPHA:3320
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Asymmetry of the ears, Sensorineural hearing impairment, Pic... OMIM:617796
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Short neck, Campt... OMIM:619110
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, High, narrow palate, Velopha... OMIM:619941
Acrocraniofacial Dysostosis
Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, Triphalangeal ... ORPHA:949
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Accessory oral frenulum, Preaxial hand polydactyly, Overfolded helix, Cleft palate... ORPHA:79113
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... ORPHA:2332
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne... OMIM:265000
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set ears, Camptodactyl... OMIM:617333
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... ORPHA:1597
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... OMIM:618000
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Wide mouth, Widely spaced teeth, Scoliosis, Clinodactyly... OMIM:300934
Atelosteogenesis, Type I
Laryngeal stenosis, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death... OMIM:108720
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Anodontia, Proximal placeme... ORPHA:90650
Diaphanospondylodysostosis
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Sifrim-Hitz-Weiss Syndrome
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
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
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
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po... ORPHA:2916
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Lateral Meningocele Syndrome
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Dental crowding, Hyperlordosis,... ORPHA:2789
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Short neck, Kyphosis, High palate... OMIM:618393
Succinic Acidemia
Respiratory distress OMIM:600335
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
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
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Thick lower lip verm... OMIM:618658
Hypertelorism, Microtia, Facial Clefting Syndrome
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
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnorma... ORPHA:915
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Robin Sequence With Cleft Mandible And Limb Anomalies
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
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-K├╝ster-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