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,  D18Bwg1409e,  5730407I04Rik,  Mtsh1,  Sdccag33,  teashirt1,  Tsh1

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
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis 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
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Brac... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... OMIM:184460
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Widely s... OMIM:135100
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ectopic anus, He... ORPHA:2345
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Short 3rd metacarpal, Broad thumb, Short toe, Broad nasal tip, Recur... ORPHA:370010
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Bulbous nose, Underdeveloped nasal alae, Everted lower lip vermilion, Flexion cont... OMIM:616549
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Tarsal synostosis, Joint laxity, Anteverted nares, Conductive hearing i... OMIM:157800
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Scoliosis, Conductive hearing impairment, Cervical C2/C3 ver... OMIM:118100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Vertebral fusion, Cleft palate, Supernumerary ribs, Vertebral segmentation defect, Prom... OMIM:221950
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Overfolded helix, Aplasia/Hypoplasia of the tongue, Choanal atresia,... ORPHA:2759
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture... OMIM:305620
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Respiratory distress, Po... ORPHA:1832
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Low back pain, Hemivertebrae, Vertebral fusion, Supe... OMIM:122600
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormality of dental morphology, Kyphosis, Low-set ears, Abnormal hip bone morpho... ORPHA:2522
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage colla... ORPHA:485
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Sensorineural hearing impairment, Phocomelia, Genu varum, ... ORPHA:3320
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Vertebral segmentation defect, Hemivertebrae, Vertebral fusion, Abnormality of the od... OMIM:613686
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Underdeveloped nasal alae, Finger clinodactyly, Macrotia, ... ORPHA:2332
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphag... OMIM:614399
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Abnormal form of the verteb... ORPHA:1597
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Accessory oral frenulum, Large earlobe, ... ORPHA:79113
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Hypoplastic frontal sinuses, Abnormality of the metacarpal bones,... ORPHA:90650
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Smith-Magenis Syndrome
Scoliosis, Morphological abnormality of the middle ear, Abnormality of the larynx, Abnormality of... OMIM:182290
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Respiratory distress, Macrotia, Wide mouth, Clinodactyly, Joint dislocation, Widely sp... OMIM:300934
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Perching Syndrome
Respiratory distress, Dysphagia, Camptodactyly, Flexion contracture, High palate, Depressed nasal... OMIM:617055
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Kbg Syndrome
Long philtrum, Oligodontia, Underdeveloped nasal alae, Macrotia, Thoracic kyphosis, Delayed skele... OMIM:148050
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneu... ORPHA:99772
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal... OMIM:113000
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Depressed nasal bridge,... OMIM:156550
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Narrow mouth, Conductive hear... OMIM:239800
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Atresia of the exter... ORPHA:3429
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormality of the antihelix, Postaxial hand polydactyly, Abnormal dental enamel morph... ORPHA:2916
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Short neck, Arthrogryposis mul... OMIM:178110
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Thin upper lip verm... ORPHA:2015
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Hemivertebrae, Hypoplastic vertebral bodies, Postaxial hand... OMIM:263540
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Congenital Velopharyngeal Incompetence
Hearing impairment, Velopharyngeal insufficiency, Abnormal palate morphology, Abnormality of the ... ORPHA:2291
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Elbow dislocation, Condu... ORPHA:3236
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, High palate, Abnormality of the pinna, Velopharyngeal insufficiency OMIM:608363
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Succinic Acidemia
Respiratory distress OMIM:600335
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Dysphagia, Respiratory insufficiency, Cleft... OMIM:201550
Frontometaphyseal Dysplasia 2
Scoliosis, Short metatarsal, Congenital hip dislocation, Camptodactyly, Sensorineural hearing imp... OMIM:617137
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Anteverted nares, Conductive hearing impairment, Low-set, pos... ORPHA:1488
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentat... ORPHA:66637
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Abnormality of the middle ear ossicles, Hyperlordosis, Abnormal form of... ORPHA:2789
Aarskog-Scott Syndrome
Oral cleft, Short neck, Long philtrum, Genu recurvatum, Joint hyperflexibility, External ear malf... ORPHA:915
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Atresia of the external auditory canal, Bilatera... ORPHA:2010
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Apert Syndrome
Delayed eruption of teeth, Broad thumb, Toe syndactyly, Narrow palate, Finger syndactyly, Conduct... ORPHA:87
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Short mandibular rami, Conduct... ORPHA:2549
Lamb-Shaffer Syndrome
Hip dysplasia, Scoliosis, Thoracic kyphosis, Thick vermilion border, Broad nasal tip, Fused cervi... ORPHA:530983
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Abnormality of the middle ear ossicles, Long philtrum, Joint hypermobil... OMIM:130720
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Low-set ears, Duodenal atresia,... OMIM:619227
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, High palate, Short fe... OMIM:618363
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Anteverted nares, Conductive hearing impairment, Beaking of vertebral b... OMIM:108300
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Recurrent otitis media, Acetabular erosions, P... OMIM:601492
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, S... OMIM:183900
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Vertebral fusion, Low-set ears, ... OMIM:312150
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Fla... OMIM:184260
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Arthrogryposis, Distal, Type 1C
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Pursed lips, Short neck, Thin vermilion b... OMIM:619110
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Broad ribs, Joint swelling, Pulmonary fibrosis, Respiratory distress, Flaring of rib ... OMIM:612852
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Choanal atresia, Depressed nasal bridge, Preaxial ha... OMIM:101200
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Thakker-Donnai Syndrome
Narrow mouth, Downturned corners of mouth, Macrotia, Bulbous nose, Hemivertebrae, Posteriorly rot... ORPHA:1780
Temple Syndrome
Scoliosis, Joint hypermobility, Short philtrum, Recurrent otitis media, Flexion contracture, Post... OMIM:616222
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Cleft palate, Limited elbow extension and supination, Abnormal ve... OMIM:244600
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Abnormal nasopharynx morphology, Res... OMIM:157900
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Conductive hearing impairment, Partial duplication of the distal phala... ORPHA:2669
Odontochondrodysplasia
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Respiratory distress, Square pel... ORPHA:166272
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Vertebral fusion, Low-set ears, ... OMIM:253290
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Bulbous nose, Abnormality of the metacarpal bones,... ORPHA:2496
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Scoliosis, Vertigo, Anteriorly placed odontoid proc... ORPHA:268882
Mosaic Trisomy 20
Scoliosis, Down-sloping shoulders, Kyphosis, Craniofacial asymmetry, Vertebral segmentation defec... ORPHA:1724
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft lip, Ora... OMIM:141400
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Hemivertebrae, Vertebral fusion, Thin upper lip vermilion, ... OMIM:615583
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Dysphagia, Pleural effusio... ORPHA:50251
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Conductive hearing impairment, Short 1st metacarpal, Short thumb, Absen... OMIM:609053
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral-pharynge... ORPHA:199306
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short 2nd metacarpal, Long philtrum, Radioulnar synostosis, Elbow dislocation, Conductive hearing... OMIM:171480
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Atresia of ... OMIM:264475
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Vertebral segmentation defect, Sacral dimple OMIM:618845
Acrootoocular Syndrome
Atresia of the external auditory canal, Grayish enamel, Sandal gap, Sensorineural hearing impairm... ORPHA:2980
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Thickened helices, Six lumbar vertebrae, Unilateral cleft lip, Darwin tuberc... OMIM:619122
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Flexion contracture, Gingival overgrowth, Kyphoscoliosis, Anteverted nares,... OMIM:618006
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Intestinal malrotation, Peripheral pu... ORPHA:2712
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Respiratory distress, Short ribs, Respiratory insufficiency, ... ORPHA:1145
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Gaucher Disease Type 2
Dysphagia, Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Enamel hypoplasia, Tarsal synostosis, C2-C3 subluxation, Sensorineural hearing impairm... OMIM:272460
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media, Abno... OMIM:221320
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Long philtrum, Finger sy... ORPHA:178303
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Large iliac wing, Conductive hearing impairm... ORPHA:2780
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Infantile sensorineural hearing impairment, Respiratory distress, Ventilator dependenc... ORPHA:254875
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive hearing impairment, A... OMIM:602471
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dyspnea, Respiratory distress, Dysphagia, Kyphosis, Ankle clonus, Respiratory insuffic... OMIM:211530
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow palate, Bulbous nose, Underdeveloped nasal a... ORPHA:96169
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Dental crowding, Triangu... OMIM:268310
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Enamel hypoplasia, Narrow palate, Persistent open anterior fontanelle, ... OMIM:119600
Metatropic Dysplasia
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Kyphosis, Achilles tendon... OMIM:606612
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Short nose, Respiratory distress, Death in infancy, Congenital contracture, Thin upper... OMIM:615042
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Duane-Radial Ray Syndrome
Scoliosis, Choanal atresia, Sandal gap, Absent radius, Sensorineural hearing impairment, Short th... OMIM:607323
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Platyspondyly, Wide anterior fontanel, Atresia of the external auditory canal, Sho... OMIM:601356
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, 2-3 toe syndactyly, Vertebral... ORPHA:313892
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Respi... OMIM:611890
Trisomy 8P
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, Aplasia/Hypoplasia of ... ORPHA:264450
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Sleep apnea, Downturned corners of mouth, Sensorineural hearing i... ORPHA:444077
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Bowing of the long bones, Wide nasal bridge, Posteriorly rotated ear... OMIM:224410
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow dislocation, Flared iliac wing, Hy... ORPHA:90652
Diaphanospondylodysostosis
Lumbosacral meningocele, Short neck, Short nose, Respiratory distress, Vertebral segmentation def... OMIM:608022
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia... OMIM:216300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Depressed nasal bridge, Hypoplastic cervical ... OMIM:114290
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Short phala... OMIM:114300
Orofaciodigital Syndrome Type 14
Postaxial hand polydactyly, Deviation of the hallux, Short neck, Bulbous nose, Sleep apnea, Low-s... ORPHA:434179
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent otitis media, Hearing impairment, Recurrent respir... OMIM:615993
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Narrow mouth, Joint laxity, Elbow dislocation, Atresia of the external audi... OMIM:224690
Zimmermann-Laband Syndrome 3
Broad nasal tip, Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexi... OMIM:618658
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Abnormality of the stapes, Short distal phalanx of finge... ORPHA:798
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Hemivertebrae, Spina bifida occulta, Rib segmentation ab... OMIM:184400
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad thumb, Broad nasal tip, Anteverted nares, Short nose, Camptodactyly, Abnorma... OMIM:618529
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Natal tooth, Postaxial polydactyly, Abnormality of the pinna, Aplasia of th... OMIM:615948
Nager Syndrome
Hypoplasia of the radius, Low-set, posteriorly rotated ears, Atresia of the external auditory can... ORPHA:245
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Aplasia/Hypoplasia of the radius, ... ORPHA:1147
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Absent radius, Triphalangeal thumb, Hypoplasia... OMIM:154400
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Congenital hip dislocation, Conductive hearing impairment, Atresia of the ext... OMIM:133705
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Respiratory distress, Flexion contracture, Respiratory insufficien... ORPHA:1143
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Hearing impairment, Short distal phalanx... OMIM:256200
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Thin vermilion border, Short neck, Narrow mouth, Respiratory distress, ... OMIM:266910
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:601390
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
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:615546
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Short neck, Depressed nasal bridge, Wide anterior fontanel, Respirat... OMIM:217980
Pfeiffer Syndrome Type 2
Broad thumb, Atresia of the external auditory canal, Broad hallux phalanx, Intestinal malrotation... ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Kyphosis, Achilles tendon... OMIM:607155
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Laryngeal hypoplasia, Conductive hearing impairment, Respiratory distress... OMIM:202650
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Scoliosis, Joint laxity, Bulbous nose, Choanal atresia, Postaxial polydactyly, Depressed nasal br... OMIM:300968
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Laryngotracheomalacia, Aplasia/hypop... ORPHA:93346
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Buratti-Harel Syndrome
Broad thumb, Broad hallux, Posteriorly rotated ears, Low-set ears, Laryngomalacia, Velopharyngeal... OMIM:619314
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Genu ... OMIM:274000
Thyroid Lymphoma
Dyspnea, Respiratory distress, Dysphagia, Upper airway obstruction, Stridor ORPHA:97285
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Respiratory distress, Postaxial polydac... OMIM:617102
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Carious teeth, Phal... ORPHA:536467
Coxoauricular Syndrome
Atresia of the external auditory canal, Reduced bone mineral density, Hearing impairment, Abnorma... ORPHA:1508
Ear-Patella-Short Stature Syndrome
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... ORPHA:2554
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Scoliosis, Joint hypermobility, Finger joint hypermobility, Short nose, Respirator... ORPHA:544503
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Atresia of the external auditory canal, Hypoplas... OMIM:614900
Stickler Syndrome, Type Ii
Joint hypermobility, Pierre-Robin sequence, Sensorineural hearing impairment, Depressed nasal bri... OMIM:604841
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, High palate, Short femoral neck, Flat capital femoral epip... OMIM:612350
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Thin vermilion border, Short philtrum, Short neck, Arthrogryposis multiplex c... OMIM:618622
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Faciodigitogenital Syndrome, Autosomal Recessive
Prominent nasal bridge, Hyperextensible hand joints, Narrow palate, Short nose, Camptodactyly, Do... OMIM:227330
Coffin-Siris Syndrome 11
Uplifted earlobe, Bulbous nose, Downturned corners of mouth, Esophageal atresia, Wide mouth, Smal... OMIM:618779
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Recurrent otitis media, Cleft palat... ORPHA:96184
Gorlin Syndrome
Scoliosis, Carious teeth, Hemivertebrae, Vertebral fusion, Wide nasal bridge, Arachnodactyly, Bra... ORPHA:377
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Kyphosis, Short sternum, Low-set ears, ... OMIM:258850
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Sensorineural hearing impairment, Ankle clonus, Cleft palate OMIM:618768
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Posterior rib gap, Atresia of the external auditory canal, Kyphosi... ORPHA:1393
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, Low-set ears,... OMIM:617412
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Overlapping toe, Underdeveloped nasal alae, Respiratory distress, Contracture of th... ORPHA:83617
Mucopolysaccharidosis Type 3
Scoliosis, Sensorineural hearing impairment, Increased susceptibility to fractures, Joint stiffne... ORPHA:581
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Crouzon Syndrome
Sleep apnea, Lambdoidal craniosynostosis, Abnormal nasopharynx morphology, Dental crowding, Condu... OMIM:123500
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Low-set, posteriorly rotated ears, Plantar flexion contractures, Hi... ORPHA:2872
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Overfo... OMIM:610443
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate, Overfolded helix ORPHA:209908
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Non-midline cleft lip, Hypodontia, Supernume... ORPHA:199302
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Narrow palate, Elbow dislocation, Phalangeal dislocation, Long uvula, Sandal... ORPHA:536532
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Short nose, Respiratory distress, Overfolded helix, Conductive hearing... OMIM:610536
Myhre Syndrome
Narrow mouth, Camptodactyly, Respiratory insufficiency, Joint stiffness, Short neck, Enlarged ver... OMIM:139210
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Congenital Myasthenic Syndrome
Choking episodes, Arthrogryposis multiplex congenita, Episodic respiratory distress, Congenital h... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Choking episodes, Arthrogryposis multiplex congenita, Episodic respiratory distress, Congenital h... ORPHA:98914
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:2213
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae, Small hand, Clinodactyly, Syndactyly ORPHA:1445
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Downturned corners of mouth, Abnormal fo... ORPHA:3015
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Increased susceptibility to fracture... OMIM:166250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Respiratory distress, Hypoplastic ilia, Horizontal ribs,... OMIM:617895
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Macroglossia, Respiratory distress, Flared elbow metaphyses, Gen... ORPHA:1423
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Chromosome 18Q Deletion Syndrome
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:601808
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Low-set, posteriorly rotated ears, Atresia of the exter... ORPHA:1770
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Bulbous nose, High palate, Wide mouth, ... ORPHA:3473
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Joint hypermobility, Broad thumb, Drooling, Dysphagia, Osteopenia, Smooth philtrum... ORPHA:576283
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Conductive hearing impa... ORPHA:2316
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Narrow mouth, Respiratory insufficiency, Protruding ear, Hip contracture, Bifid uv... ORPHA:169186
Esophageal Atresia
Scoliosis, Laryngotracheomalacia, Oral aversion, Intestinal malrotation, Choanal atresia, Abnorma... ORPHA:1199
Hypoglossia With Situs Inversus
Narrow mouth, Respiratory distress, Hypodontia, Low-set ears, Upper airway obstruction, Microglos... OMIM:612776
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Delayed eruption of teeth, Short femur, Short neck, Narrow mouth,... OMIM:300990
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choanal atresia, Hemiv... OMIM:146510
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Joint laxity, Flat a... OMIM:615777
Orofaciodigital Syndrome V
Scoliosis, Postaxial hand polydactyly, Aganglionic megacolon, Cleft palate, Lobulated tongue, Pos... OMIM:174300
Tetrasomy 5P
Short hallux, Long philtrum, Short neck, Wide anterior fontanel, Overlapping toe, Short nose, Res... ORPHA:3309
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Recurrent otitis media, Hypodontia... OMIM:129400
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Esophageal atresia, Hemivertebrae, Vertebral fusion, Sensorineu... OMIM:206900
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping fingers, Scoliosis, Long philtrum, Short nose, Overlapping toe, Respiratory distress,... OMIM:619383
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Short philtrum, Thick lower lip vermilion, Dental crowding, Recurrent fractures, Ab... OMIM:309583
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Thin ribs, Vertebral f... OMIM:271520
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Bulbous nose, Respiratory distress, Macrotia, Wide nasal b... ORPHA:261304
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, S... OMIM:187601
Bresek Syndrome
Scoliosis, Postaxial hand polydactyly, Aganglionic megacolon, Hemivertebrae, Low-set ears, Hearin... ORPHA:85284
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Bulbous nose, Wide nasal bridge, Hearing impairment, Cleft upper lip, Cleft palate, Bi... OMIM:300958
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Conductive hearin... OMIM:608572
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pfeiffer Syndrome Type 3
Broad thumb, Broad hallux phalanx, Intestinal malrotation, Choanal atresia, Stenosis of the exter... ORPHA:93260
Schilbach-Rott Syndrome
Narrow mouth, 3-4 finger cutaneous syndactyly, Posteriorly rotated ears, Clinodactyly, Bifid uvul... OMIM:164220
Diamond-Blackfan Anemia 7
Scoliosis, Esophagitis, Osteoporosis, Atresia of the external auditory canal, Recurrent otitis me... OMIM:612562
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of the vertebral bodies,... ORPHA:3238
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Oligodontia, Natal tooth, Increased susceptibility to... OMIM:224300
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Recurrent fractures, Osteopenia, Hearing impair... OMIM:166200
Alpha-1-Antitrypsin Deficiency
Chronic pulmonary obstruction, Wheezing, Dyspnea, Panacinar emphysema OMIM:613490
Cerebrocostomandibular Syndrome
Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocation, High palate, Elbow flexion c... OMIM:117650
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Conductive hearing impairment, Beaded ribs, Tooth agenesis, Hearing impairme... OMIM:616229
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia OMIM:251800
17Q23.1Q23.2 Microdeletion Syndrome
Scoliosis, Narrow mouth, Bulbous nose, Sandal gap, Long toe, Pulmonary arterial hypertension, Sha... ORPHA:261279
Cri-Du-Chat Syndrome
Scoliosis, Short philtrum, Short metatarsal, Downturned corners of mouth, Thick lower lip vermili... OMIM:123450
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Congenital hip dislocation, Branchial cyst, Conductive hearing impairm... OMIM:113650
Robinow Syndrome
Scoliosis, Dental crowding, Short distal phalanx of finger, Hemivertebrae, Oral cleft, Triangular... ORPHA:97360
Fraser Syndrome 1
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Wide nose, De... OMIM:219000
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Short nose, Respiratory distress, Polydactyly, Deep philtrum, Tented uppe... ORPHA:314655
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Larsen Syndrome
Scoliosis, Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Laryngotracheomalacia, ... ORPHA:503
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Bulbous nose, Abnormality of the metacarpal bones, Abnormality of the metaphysi... ORPHA:2636
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormality of the vertebral column, Abnor... OMIM:184705
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Overfolded helix, Dental crowding, Camptod... OMIM:300373
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Myhre Syndrome
Platyspondyly, Thin vermilion border, Large iliac wing, Narrow mouth, Abnormality of epiphysis mo... ORPHA:2588
Caudal Regression Sequence
Scoliosis, Abnormal iliac wing morphology, Oral cleft, Anal atresia, Missing ribs, Joint stiffnes... ORPHA:3027
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Carious teeth, Long philtrum, Short neck, Narrow mouth, Anteverted nares... OMIM:272430
Tonne-Kalscheuer Syndrome
Broad thumb, Narrow mouth, Downturned corners of mouth, Dysphagia, Wide nasal bridge, Pulmonary h... OMIM:300978
Kapur-Toriello Syndrome
Bulbous nose, Atresia of the external auditory canal, Intestinal malrotation, Posteriorly rotated... ORPHA:2328
Dubowitz Syndrome
Scoliosis, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Respiratory insufficiency... ORPHA:235
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Bulbous nose, Macrotia, Villous atrophy, Flexion contracture,... OMIM:601110
Orofaciodigital Syndrome Type 5
Scoliosis, Enamel hypoplasia, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Acces... ORPHA:2919
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Choanal atresia, Abnormality of the metacarpal bone... ORPHA:2658
Hemifacial Microsomia
Anotia, Vertebral hypoplasia, Unilateral external ear deformity, Branchial anomaly, Conductive he... OMIM:164210
Duane Retraction Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Short neck, Narrow internal auditory canal, ... ORPHA:233
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Atresia of the external auditory canal, Hypoplasia of the ulna, Abnorma... ORPHA:3186
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO OMIM:234810
Myopathy And Diabetes Mellitus
Sensorineural hearing impairment, Respiratory distress, Achilles tendon contracture ORPHA:2596
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Cough, High palate, ... ORPHA:96170
Aicardi Syndrome
Hip dysplasia, Scoliosis, Hiatus hernia, Short philtrum, Rib fusion, Small hand, Protruding ear, ... ORPHA:50
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal, Clinodactyly of the 5th finger ORPHA:3023
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Dysphagia, Cough, Upper airway obstruction, Stridor ORPHA:142
Mycophenolate Mofetil Embryopathy
Anotia, Atresia of the external auditory canal, Short palm, Tracheomalacia, Oral cleft, Bifid tho... ORPHA:268249
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Irregular ossification of hand bones, Odontogenic keratocysts of... OMIM:109400
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Resp... ORPHA:51608
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly, Ste... OMIM:608257
Monosomy 9P
Anotia, Scoliosis, Abnormality of the antihelix, Narrow mouth, Atresia of the external auditory c... ORPHA:261112
Multiple Synostoses Syndrome 4
Otosclerosis, Brachydactyly, Tarsal synostosis, Overlapping toe OMIM:617898
Lambotte Syndrome
Atresia of the external auditory canal, Preaxial foot polydactyly, Narrow mouth, Macrotia OMIM:245552
Synaptic Congenital Myasthenic Syndromes
Abnormality of the knee, Limited wrist extension, Scoliosis, Sleep apnea, Hypoventilation, Respir... ORPHA:98915
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Kleefstra Syndrome 2
Scoliosis, Bifid uvula, Kyphosis, Everted lower lip vermilion OMIM:617768
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Intervertebral disc d... ORPHA:93311
Branchioskeletogenital Syndrome
Thin vermilion border, Craniosynostosis, Carious teeth, Downturned corners of mouth, Upper limb p... ORPHA:1299
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Attached earlobe, Sensorineural hearing impairment, Thin lower lip vermilion, Short di... OMIM:619194
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Agenesis of permanent teeth, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxi... OMIM:614091
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Joint swelling, Flexion contracture of finger, Dental crowding, ... OMIM:618175
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Short palm, Smooth philtrum, Small h... OMIM:608799
Diamond-Blackfan Anemia 10
Respiratory distress, Conductive hearing impairment, Atresia of the external auditory canal, Choa... OMIM:613309
Temple Syndrome
Scoliosis, Polyphagia, Small hand, Short foot, Bifid uvula, Clinodactyly of the 5th finger ORPHA:254516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Narrow palate, Bulbous nose, Respiratory distress, Tapered toe, Overfolded helix, Respirat... OMIM:608836
Primary Dystonia, Dyt4 Type
Respiratory distress, Open mouth, Dysphagia, Movement abnormality of the tongue, Kyphoscoliosis ORPHA:98805
Loeys-Dietz Syndrome 4
Scoliosis, Protrusio acetabuli, Joint laxity, Joint hyperflexibility, Emphysema, Spondylolisthesi... OMIM:614816
Episodic Ataxia Type 1
Scoliosis, Vertigo, Respiratory distress, Kyphoscoliosis ORPHA:37612
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Aplasia/Hypoplasia of the tibia, Oral cleft, Rectovaginal fistula, A... ORPHA:2753
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Overlapping toe, Camptodactyly, Smooth philtrum, Abnormality of the dentition, Thi... ORPHA:363444
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Oral ulcer, Pleural effusion, C... ORPHA:3392
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Camptodactyly, Agenesis of maxillary ... OMIM:311450
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Delayed skeletal maturatio... OMIM:223370
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Bulbous nose, Thoracic kyphosis, Short sternum, Hamartoma of tongue, ... ORPHA:2752
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Dyspnea, Respiratory distress, Cough, Lumbar hyperlordosis, Spinal rigidity ORPHA:86812
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Agenesis of maxillary central in... ORPHA:2804
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Small earlobe, Wormian bones, Short metatarsal, Narrow mouth, D... OMIM:211910
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Respiratory distress, Deep philtrum, Contractures of the large joints, Thi... ORPHA:329178
Native American Myopathy
Arthrogryposis multiplex congenita, Joint laxity, Downturned corners of mouth, Conductive hearing... ORPHA:168572
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Respiratory distress, Ventilator dependence with inability to wean, Respiratory fai... ORPHA:254864
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Broad thumb, Congenital hip dislocation, Death in inf... ORPHA:373
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cupped costochondra... OMIM:187600
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Short nose, Atresia of the external auditory canal, Wide mouth, Smooth p... ORPHA:261236
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Thickened helices, Craniosynostosis, Narrow palate, Narrow mouth, Respiratory distress, Macrotia,... ORPHA:1555
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Thoracic hemivertebrae, Low-set ears, Solitary median maxillary cent... OMIM:301043
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Hereditary Angioedema Type 1
Intestinal edema, Dyspnea, Abnormal soft palate morphology, Abnormal respiratory system morpholog... ORPHA:100050
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Flexion contracture, Respiratory distress, Pulmonary hypoplasia OMIM:616733
Hydrolethalus
Postaxial hand polydactyly, Low-set, posteriorly rotated ears, Tracheal atresia, Gingival cleft, ... ORPHA:2189
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Protruding ... OMIM:147770
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Broad distal phalanx of finger, Long philtrum, Downturned corners of mouth, Kyphosis, ... ORPHA:404440
Cree Mental Retardation Syndrome
Rocker bottom foot, Posteriorly rotated ears, Low-set ears, Cutaneous finger syndactyly, Aplasia/... OMIM:606851
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:178500
Wolf-Hirschhorn Syndrome
Scoliosis, Malrotation of small bowel, Downturned corners of mouth, Split hand, Oral cleft, Metat... OMIM:194190
Ulbright-Hodes Syndrome
Thin vermilion border, Narrow mouth, Bilateral external ear deformity, Phocomelia, Abnormality of... ORPHA:3404
Idiopathic Bronchiectasis
Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emphysema, Acute infectious pneu... ORPHA:60033
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Scoliosis, Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Conge... ORPHA:457279
Arterial Tortuosity Syndrome
Scoliosis, Craniosynostosis, Pulmonary artery stenosis, Hip dysplasia, Rocker bottom foot, Respir... ORPHA:3342
Charge Syndrome
Scoliosis, Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Choanal atresia, Resp... ORPHA:138
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Narrow mouth, Underdeveloped nasal alae, Aphalangy of the... OMIM:218600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Laryngotracheomalacia, Absence of the sacrum, Sensorineural hearing impairmen... OMIM:617660
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Narrow mouth, Joint laxity, Phalang... OMIM:130070
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shaped epiphysis, Wide... OMIM:266920
Neu-Laxova Syndrome
Scoliosis, Osteoporosis, Abnormality of the mouth, Arthrogryposis multiplex congenita, Abnormalit... ORPHA:2671
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Atresia of the external aud... ORPHA:79500
Malaria
Respiratory distress ORPHA:673
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Narrow internal auditory canal, Respiratory distress, Low-set, posteriorly rotated ... ORPHA:990
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Long philtrum, Accessory oral frenulum, Tarsal synostosis, Sho... ORPHA:2756
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Respiratory distress, Dysphagia, Wide nasal bridge, Low-set ears, Adducted th... ORPHA:89844
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Intestinal Botulism
Dyspnea, Dysphagia, Death in infancy, Respiratory insufficiency due to muscle weakness ORPHA:178481
Fraser Syndrome
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Death in infa... ORPHA:2052
Zttk Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... OMIM:617140
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Metatar... ORPHA:2215
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Cardiofaciocutaneous Syndrome 1
Scoliosis, Open bite, Bulbous nose, Open mouth, High palate, Short neck, Depressed nasal bridge, ... OMIM:115150
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Intestinal malrotation, Sa... OMIM:215140
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Craniosynostosis, Narrow palate, Narrow mouth, Respiratory distress, Low... OMIM:123790
Megalocornea-Mental Retardation Syndrome
Genu valgum, Long philtrum, Genu recurvatum, Dysphagia, Osteopenia, Wide nasal bridge, Cupped ear... OMIM:249310
15Q Overgrowth Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Dental crowding, Contracture of the proximal in... ORPHA:314585
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormality of long bone morphology, Abnormality of tibia morphology, C... ORPHA:666
Microlissencephaly-Micromelia Syndrome
Long philtrum, Short neck, Short nose, Respiratory distress, 11 pairs of ribs, Adducted thumb ORPHA:50810
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Ankle clonus, Cleft palate ORPHA:506353
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Marden-Walker Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Radioulnar synostosis, Na... ORPHA:2461
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hip dysplasia, Contractures of the joints of the lower limbs, Recurrent otitis media, Tracheomala... ORPHA:513456
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Wide mouth, Smooth philtrum... ORPHA:2707
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Long philtrum, Respiratory distress OMIM:614741
Neurofaciodigitorenal Syndrome
Abnormality of the philtrum, Atresia of the external auditory canal, Abnormality of the elbow, Ab... ORPHA:2673
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal, 2-3 toe syndactyly, Hypodo... OMIM:106260
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Scoliosis, Upper limb undergrowth, Broad thumb, Short neck, Short p... ORPHA:529962
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Loeys-Dietz Syndrome 5
Hiatus hernia, Joint hypermobility, Congenital finger flexion contractures, Overfolded helix, Fle... OMIM:615582
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Congenital hip dislocation, Respiratory distress, Flexion contracture, Osteop... OMIM:271225
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Chitayat Syndrome
Respiratory distress, Anteverted nares, Thick vermilion border, Tracheomalacia, Abnormal pulmonar... OMIM:617180
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Cleft palate... OMIM:612938
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Gaucher Disease, Perinatal Lethal
Apnea, Arthrogryposis multiplex congenita, Narrow mouth, Open mouth, Short nose, Respiratory dist... OMIM:608013
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Natal tooth, Choanal atresia... OMIM:259775
Coffin-Siris Syndrome 12
Scoliosis, Hip subluxation, Broad thumb, Joint laxity, Bulbous nose, Underdeveloped nasal alae, S... OMIM:619325
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Glutamine Deficiency, Congenital
Apnea, Thin vermilion border, Short nose, Camptodactyly, Flexion contracture, Wide nasal bridge, ... OMIM:610015
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow greater sciatic ... OMIM:617925
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Desmosterolosis
Anomalous pulmonary venous return, Narrow mouth, Short nose, Low-set, posteriorly rotated ears, I... ORPHA:35107
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Respiratory distress, Flared iliac wing, Flexion contracture, Thick vermilion borde... OMIM:617303
Charcot-Marie-Tooth Disease Type 4C
Hip dysplasia, Vestibular dysfunction, Abnormality of the vertebral column, Difficulty in tongue ... ORPHA:99949
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Hyperphosphatasia-Intellectual Disability Syndrome
Hip dysplasia, Shortening of all distal phalanges of the fingers, Thickened helices, Scoliosis, S... ORPHA:247262
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Stillbirth, Low-set, posteriorly rotated ears, Flexion contra... ORPHA:85212
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Conductive hearing impairment, Mixed hearing impairment, Kyphoscoliosis... OMIM:614557
Adnp Syndrome
Broad thumb, Joint laxity, Polydactyly, Sandal gap, Depressed nasal bridge, Abnormality of finger... ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Short ribs, Thin ribs, Osteopenia, Femoral bowing OMIM:618188
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Scoliosis, Congenital hip dislocation, Joint laxity, Choanal atresia, Postaxial polydactyly, High... ORPHA:480880
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hip dysplasia, Scoliosis, Oligodontia, Craniosynostosis, Macroglossia, Open mouth, Downturned cor... ORPHA:453499
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Thickened helices, Short philtrum, Bulbous nose, Smooth philtrum, Posteriorl... ORPHA:293725
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis, Macroglossia, Osteoporosis, Respiratory tract infection, Sleep apnea, D... ORPHA:365
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Posteriorly rotated ears, Low-set ears, Small hand, Depress... OMIM:241410
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Finger syndactyly, Conductive heari... ORPHA:1071
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormality of the pinna, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Synd... OMIM:228940
Cardiac-Valvular Ehlers-Danlos Syndrome
Hypermobility of distal interphalangeal joints, Severe conductive hearing impairment, Genu valgum... ORPHA:230851
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Narrow mouth, Intestinal malrotation, Depressed nasal b... ORPHA:3426
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Tympanosclerosis, Malabsorption, Chronic atrophic gastritis OMIM:240300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Scoliosis, Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Downturned corne... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Scoliosis, Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Downturned corne... ORPHA:352665
Prader-Willi Syndrome Due To Translocation
Scoliosis, Carious teeth, Downturned corners of mouth, Alveolar ridge overgrowth, Triangular-shap... ORPHA:177907
Stüve-Wiedemann Syndrome
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... ORPHA:3206
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Mesomelia-Synostoses Syndrome
Absent uvula, Abnormal vertebral morphology, Metacarpal synostosis, Partial fusion of proximal ro... OMIM:600383
Rodrigues Blindness
Nasal flaring, Protruding ear, Tooth malposition, Narrow nasal bridge OMIM:268320
Aicardi Syndrome
Scoliosis, Hiatus hernia, Recurrent pneumonia, Anteverted nares, Rib fusion, Hemivertebrae, Cleft... OMIM:304050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Incisor macrodontia, Abnormality of primary teet... ORPHA:438216
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Mixed hearing i... OMIM:606164
Restrictive Dermopathy, Lethal
Rocker bottom foot, Narrow mouth, Stillbirth, Ankylosis, Decreased calvarial ossification, Natal ... OMIM:275210
Mucopolysaccharidosis Type 2, Severe Form
Sleep apnea, Sensorineural hearing impairment, Increased size of nasopharyngeal adenoids, Wide no... ORPHA:217085
Cardiofaciocutaneous Syndrome
Scoliosis, Genu valgum, Thickened helices, Cubitus valgus, Long philtrum, Short nose, Macrotia, L... ORPHA:1340
Mucopolysaccharidosis Type 2, Attenuated Form
Sleep apnea, Sensorineural hearing impairment, Increased size of nasopharyngeal adenoids, Wide no... ORPHA:217093
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Submucous cleft soft palate, Wide nasal bridge, Hearing impairment, Pulmonary arteria... ORPHA:2282
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Abnormality of epiphysis morphology, Absent ossification of c... ORPHA:226313
Walker-Warburg Syndrome
Posteriorly rotated ears, Low-set ears, Protruding ear, Cleft palate, Bifid uvula, Metatarsus val... ORPHA:899
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Respiratory distress, Abnormality of the pinna, Neonatal death, Pulmonary... OMIM:231680
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Central sleep apnea, Fragile teeth, Short distal ph... ORPHA:2959
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Limb-Mammary Syndrome
Oligodactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Submucous cleft soft palate, Hypod... ORPHA:69085
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Triphalangeal th... OMIM:604757
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Genu valgum, Hypoplasia of the tooth germ, Broad thumb, Overlapping toe, Marked delay in bone age... ORPHA:293967
Multiple Carboxylase Deficiency
Tachypnea, Hearing impairment, Respiratory distress ORPHA:148
Arboleda-Tham Syndrome
Small earlobe, Craniosynostosis, Narrow mouth, Downturned corners of mouth, 3-4 finger cutaneous ... OMIM:616268
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial hand polydactyly, Respiratory distress, Horizontal ribs, Short ribs, Hypodontia, Low-se... OMIM:617088
Birk-Barel Syndrome
Short philtrum, Dysphagia, Submucous cleft soft palate, Tented upper lip vermilion, Sacral dimple... OMIM:612292
Uvula, Bifid
Bifid uvula OMIM:192100
Neuromuscular Oculoauditory Syndrome
Simple ear, Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Wri... OMIM:618733
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Absent tragus, Conductive hearing impairment, Atresia of the external audito... OMIM:603457
Microphthalmia, Syndromic 2
Scoliosis, Oligodontia, Asymmetry of the ears, Sandal gap, Sensorineural hearing impairment, Cont... OMIM:300166
Short-Rib Thoracic Dysplasia 12
Natal tooth, Horizontal ribs, Intestinal malrotation, Hamartoma of tongue, Respiratory insufficie... OMIM:269860
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Dysphagia, Episodic respiratory distress, Death in infancy OMIM:301790
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Myotonic Dystrophy 1
Dysphagia, Respiratory distress OMIM:160900
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Downturned corners of mouth, Finger syndactyly, Underdevelo...