Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
goosecoid homeobox
Synonyms:
goosecoid

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 Gsc 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 Gsc by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Conductive hearing impairment, Narrow mouth, Malar flattening, Flexion contracture, ... OMIM:602471

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... ORPHA:79113
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Narrow nasal bridge, Atresia of the external auditory canal, Abnor... ORPHA:3236
Braddock-Carey Syndrome 2
Wide mouth, Bulbous nose, Cleft palate, Retrognathia, Atresia of the external auditory canal, Pie... OMIM:619981
Femoral-Facial Syndrome
Sprengel anomaly, Coxa vara, Rib fusion, Vertebral segmentation defect, Talipes equinovarus, Apla... ORPHA:1988
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... OMIM:609166
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathi... OMIM:239800
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... ORPHA:52429
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Microtia, Short mandibular rami, Oral cleft, Atresia... OMIM:141400
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Bulbous nose, Protruding ear, Cleft palate, Microtia, Everted lowe... ORPHA:2316
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, High palate, Depres... ORPHA:2792
Lambotte Syndrome
Narrow mouth, Convex nasal ridge, Retrognathia, Atresia of the external auditory canal, Macrotia OMIM:245552
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Abnormal form of the... ORPHA:1801
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Acrootoocular Syndrome
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Anodontia, ... ORPHA:2980
Bor Syndrome
Abnormality of the middle ear ossicles, Cleft palate, Retrognathia, Stenosis of the external audi... ORPHA:107
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Carious teet... OMIM:147770
Nager Syndrome
Wide mouth, Cleft palate, Microtia, Micrognathia, Abnormal nasal morphology, Low-set, posteriorly... ORPHA:245
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Bifid nose, Atresia of the external auditory canal, Bifi... ORPHA:2213
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Malar flattening, Microtia, Overfolded helix, Micrognathia, Cleft ... OMIM:610536
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ma... ORPHA:1488
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... ORPHA:949
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Skin ul... OMIM:604571
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Scoliosis, Genu varum, Short lower limbs, Carious teeth, Hyperlordosis, Ab... ORPHA:2501
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezing, Chro... OMIM:613808
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... OMIM:606763
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Stenosis of the external auditory canal... ORPHA:1513
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Conductive hearing impairment, Selective tooth agenesis, Hypodontia, Cleft palat... OMIM:106260
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Congenital diaphragmatic hernia, Malar flattening, Microtia, Cleft... OMIM:613309
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, P... ORPHA:64755
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormality of the d... OMIM:182290
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Conductive hearing impairment, Joint contracture of the hand, Malar flatteni... OMIM:608257
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Conductive hearing impairment, Narrow mouth, Malar flattening, Flexion contracture, ... OMIM:602471
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Dental malocclusion, Wide anterior fontanel, Conductive hearing... OMIM:601390
Mosaic Trisomy 14
Narrow chest, High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Campto... ORPHA:1703
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615444
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Dental malocclusion, Wide anterior fontanel, Conductive hearing... OMIM:615546
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Crouzon Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Hypoplasia of the maxilla,... OMIM:123500
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... OMIM:616037
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Verloove Vanhorick-Brubakk Syndrome
Cleft palate, Microtia, Micrognathia, Atresia of the external auditory canal, Non-midline cleft l... ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... OMIM:608728
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Ciliary dyskin... OMIM:614935
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Primary Ciliary Dyskinesia
Conductive hearing impairment, Airway obstruction, Intestinal malrotation, Chronic otitis media, ... ORPHA:244
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Diaphyseal sclerosis, Depressed nasal bridge, Wide nasal bridge,... OMIM:122860
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... ORPHA:99772
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of ca... ORPHA:93351
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Microtia, Depressed nasal bridge, Broad hallux phalanx, Long phil... ORPHA:261295
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia... ORPHA:2097
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent... OMIM:615518
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Retrognathia, Camptodactyly of finge... ORPHA:2631
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, External ear malformation, Atresia of the external auditory canal, ... ORPHA:2673
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media, Abno... OMIM:221320
Barber-Say Syndrome
Wide mouth, Bulbous nose, Abnormal pinna morphology, Delayed eruption of teeth, Atresia of the ex... ORPHA:1231
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of ... OMIM:616367
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Pectus excavatum, Triangular mouth, Hypoplasia of the radius, Depressed nasal bridge,... OMIM:268310
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia OMIM:607842
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Thoracomelic Dysplasia
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ... ORPHA:1803
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Pectus carinatum, Radioulnar synostosis, Short nose, Enamel agenesis, Clinodactyly ... OMIM:614701
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Pectus excavatum, Talipes equinovarus, Flat capital femoral ep... OMIM:601560
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... OMIM:601808
Multiple Synostoses Syndrome 1
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Diastrophic Dysplasia
Kyphosis, Abnormal clavicle morphology, Joint dislocation, Hypoplastic cervical vertebrae, Microg... ORPHA:628
X-Linked Intellectual Disability, Porteous Type
Bulbous nose, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia ORPHA:93945
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... ORPHA:2635
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Chronic rhinitis, Recurrent... OMIM:244400
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed ... ORPHA:1529
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Broad nasal ti... OMIM:136760
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Abnormal respiratory motile cilium morphology, R... OMIM:242680
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... OMIM:265000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Prominent nose, Patellar subluxation, Abnormal number of incis... ORPHA:2958
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Wide nasal... ORPHA:2180
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, M... ORPHA:474
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... ORPHA:429
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Short philtru... ORPHA:1507
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Scoli... ORPHA:916
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Clin... ORPHA:3082
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Congenital stape... OMIM:184460
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... ORPHA:1354
Lujan-Fryns Syndrome
High palate, Protruding ear, Pectus excavatum, Arachnodactyly, Micrognathia, Abnormality of the d... ORPHA:776
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Protruding ear, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip v... OMIM:618737
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Abnormal rib... ORPHA:93267
Thanatophoric Dysplasia, Type Ii
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... OMIM:187601
Lipoid Proteinosis
High palate, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules, Dysphag... ORPHA:530
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... OMIM:607326
Lateral Meningocele Syndrome
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Pectus excava... OMIM:130720
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... OMIM:242670
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Abnormal pinna morphology, Conductive hearing impairment, Paran... OMIM:603457
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... ORPHA:1802
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction OMIM:208550
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Stenosis of the external auditory canal, Glossoptosis, Bilateral cond... OMIM:615706
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... ORPHA:168549
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Lateral clavicle hook, Short femur, Undulate r... OMIM:211350
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Renpenning Syndrome
Sensorineural hearing impairment, Sprengel anomaly, Anal atresia, Pectus excavatum, Narrow mouth,... ORPHA:3242
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Malar flattening, Cleft palate, Intestinal malrotation, Depressed nasa... ORPHA:93259
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Microgn... ORPHA:93359
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... ORPHA:2010
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated t... OMIM:252100
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Delayed eruption ... OMIM:112350
Isotretinoin-Like Syndrome
Thin anteverted nares, Cleft palate, Microtia, Micrognathia, Anotia, Aplasia/Hypoplasia of the in... ORPHA:2306
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Sl... ORPHA:1486
Anauxetic Dysplasia 3
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Pectus ex... OMIM:618853
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Aplasia/Hypoplasia of the distal phalanges of the... ORPHA:1248
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... OMIM:151210
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:2990
Pallister-Hall Syndrome
Cleft palate, Depressed nasal bridge, Y-shaped metacarpals, Short nose, Anteriorly placed anus, R... OMIM:146510
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis OMIM:617092
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Abnormality of the dentition, Chronic otitis med... ORPHA:276422
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... ORPHA:2522
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Microtia, Cleft palate, Micr... ORPHA:2145
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Hypoplas... ORPHA:915
Atelosteogenesis, Type Ii
Cervical kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Bifid hume... OMIM:256050
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Cleft palate, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory canal... ORPHA:1770
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Microtia, Micrognathia, Tracheoesophageal fistula, Anotia, Bifid... ORPHA:268249
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Overfolde... ORPHA:2759
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... OMIM:614669
Acrofacial Dysostosis 1, Nager Type
Cleft upper lip, Low-set ears, Conductive hearing impairment, Wide mouth, Velopharyngeal insuffic... OMIM:154400
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Robinow Syndrome
Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal bridge, Short nose, Bif... ORPHA:97360
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Wide mouth, Cleft upper lip, Cleft palate, Depressed nasal brid... ORPHA:261236
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... ORPHA:1307
Craniosynostosis And Dental Anomalies
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... OMIM:614188
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Short nose, Hypoplasia of the maxi... OMIM:213980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Monosomy 9P
Abnormal antihelix morphology, High palate, Narrow mouth, Congenital diaphragmatic hernia, Malar ... ORPHA:261112
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Micrognathia, Prominent nose, Macrotia, Supernumerary ribs, Vertebral fusion OMIM:221950
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Pyloric stenosis OMIM:133705
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Micrognathia, Metaphyseal widening, Hypoplastic ilia, Hypoplasti... OMIM:614524
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Abnormal pinna morphology, Pectus excavatum, Depressed nasal r... ORPHA:77300
Treacher Collins Syndrome 1
Conductive hearing impairment, Wide mouth, Narrow mouth, Malar flattening, Microtia, Cleft palate... OMIM:154500
Cleidocranial Dysplasia
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay... ORPHA:1452
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short nose, Thick nas... ORPHA:163961
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Depressed nasal ... OMIM:600920
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... ORPHA:1993
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Vertebral wedgi... ORPHA:1159
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Sprengel anomaly, Short fifth meta... OMIM:134780
Kapur-Toriello Syndrome
Bulbous nose, Intestinal malrotation, Oral cleft, Atresia of the external auditory canal, Low-set... ORPHA:2328
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, ... ORPHA:85279
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Grayish... ORPHA:582
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Intestinal malrotation, Atresia of the external auditory canal, Arthrogryposis multiplex congenit... OMIM:243180
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Finger syndactyly, Depressed nasal ridg... ORPHA:178303
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Posterior rib cuppin... OMIM:228520
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Wormian bones, P... OMIM:259440
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Depressed nasal ridge, Malar flattening, Prominence of ... ORPHA:2412
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Convex nasal ridge, Malar flattening, Respiratory insufficiency, B... ORPHA:93262
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long finge... OMIM:218000
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... OMIM:269250
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Malar flattening, Short long bone, Micrognathia, Neonatal death, Bowing of the long... OMIM:224410
3M Syndrome
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... ORPHA:2616
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Mic... ORPHA:440354
Dyggve-Melchior-Clausen Syndrome, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... OMIM:304950
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sensorineural hearing impairment, Rib fusion, Bulbous nose, Clinodactyly of the 5th finger, Taper... ORPHA:544488
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Pectus excavatum, Weakness of facial musculature, Increased variabil... ORPHA:536516
Keipert Syndrome
Sensorineural hearing impairment, Short distal phalanx of finger, Clinodactyly of the 5th finger,... ORPHA:2662
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly... OMIM:604922
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Micrognathia, Scoliosis, Abnormal vertebral morphology, Hand polyda... ORPHA:261197
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Camptodact... OMIM:246560
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs, Wide mouth, Cleft upper lip, Cleft palate... ORPHA:1394
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Schinzel-Giedion Syndrome
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Abnormal helix morph... ORPHA:798
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... ORPHA:85166
Fraser Syndrome 1
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Cleft upper lip,... OMIM:219000
Kbg Syndrome
Cutaneous syndactyly, Macrodontia, Tented upper lip vermilion, Widely-spaced maxillary central in... OMIM:148050
Ear-Patella-Short Stature Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Camptodactyly of fin... ORPHA:2554
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies, ... ORPHA:2370
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Malabsorption, Sinusitis, Respiratory insufficiency, Myositis, Arthritis, Intestinal obst... ORPHA:183
Ablepharon Macrostomia Syndrome
Wide mouth, Microtia, Thin vermilion border, Depressed nasal bridge, Camptodactyly of finger, Mic... ORPHA:920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Del... ORPHA:2972
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Thin ribs, Depressed nasal ridge, Micrognathia, Short philtrum, Metaphyseal cupping o... ORPHA:163966
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Coffin-Lowry Syndrome
High palate, Wide mouth, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed eruption... ORPHA:192
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Retrognathia, Hypoplastic scapulae,... OMIM:618022
Odontochondrodysplasia
Narrow chest, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micr... ORPHA:166272
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Nasal polyposis, Median cleft lip OMIM:155145
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Abnormal rib morphology, Low-set ears, Posteriorly rotated ears, Meckel diverticulum OMIM:300864
Cousin Syndrome
Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger, Talipes equin... OMIM:260660
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of the ankles, Scoliosis, Cuboidal metacarpal, Elbow dislocation, Abno... ORPHA:968
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Short hard palate, Atres... ORPHA:1393
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Diamond-Blackfan Anemia 7
Cleft palate, Atresia of the external auditory canal, Small hypothenar eminence, Choanal atresia,... OMIM:612562
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Wide anterior fontanel, Micrognathia, Broad femoral neck, Wormian bones... ORPHA:85184
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thorax, Abnormality o... ORPHA:1350
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... OMIM:210720
Warburg-Cinotti Syndrome
High palate, Conductive hearing impairment, Gingival overgrowth, Flexion contracture of finger, A... OMIM:618175
Three M Syndrome 2
High palate, Dental malocclusion, Protruding ear, Prominent nasal tip, Malar flattening, Thin rib... OMIM:612921
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Thin ribs, Micrognath... OMIM:259420
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Talipes equinovarus... ORPHA:263508
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Long philtrum, Abnormality of ver... ORPHA:90653
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:1508
14Q22Q23 Microdeletion Syndrome
Malar flattening, Micrognathia, Cupped ear, Atresia of the external auditory canal, Downturned co... ORPHA:264200
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Microtia, Small hand, Micrognathia, Left ventricular hypertrophy, Low-... OMIM:611209
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Thin vermilion border, Short ... OMIM:156510
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, High palate, Pectus excavatum, Pectus carinatum, Hypoplasia of the maxilla, Mandibu... OMIM:300676
Kagami-Ogata Syndrome
Diastasis recti, Thin ribs, Microtia, Retrognathia, Micrognathia, Depressed nasal bridge, Long cl... OMIM:608149
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Broad long bones, Flared metaphysis, Scoliosis, Genu varum, Wormian bones... OMIM:269300
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... OMIM:108720
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Atelosteogenesis Type Iii
Abnormality of the humerus, Patellar dislocation, Thoracic hypoplasia, Elbow dislocation, Hand cl... ORPHA:56305
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Prominence of the premaxilla, Small hand, Scoliosis,... ORPHA:50
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Mult... ORPHA:207
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... ORPHA:2319
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Delayed cranial suture clo... OMIM:601812
Trisomy 8P
Multiple joint contractures, Cleft palate, Short fourth metatarsal, Clinodactyly of the 4th toe, ... ORPHA:264450
Cole-Carpenter Syndrome
Kyphosis, Micrognathia, Scoliosis, Delayed eruption of teeth, Wormian bones, Abnormal form of the... ORPHA:2050
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends ORPHA:168555
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Hypopla... OMIM:257850
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Microtia, Flexion contrac... OMIM:224690
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Depressed nasal bri... ORPHA:2021
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... ORPHA:950
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Macrotia ORPHA:93950
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Atresia of the external auditory canal, Cleft palate OMIM:614900
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Hypoplasi... ORPHA:763
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormal pinna morphology, Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Thick ver... ORPHA:228396
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Abnormally folded helix, Pectus excavatum, Flexion contracture, Arachnodactyly, Micr... OMIM:309520
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... OMIM:187600
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... ORPHA:958
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Bra... OMIM:300232
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Prominent nasal bridge OMIM:608432
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Subaortic Stenosis--Short Stature Syndrome
Short palm, Narrow mouth, Pectus excavatum, Short toe, Malar flattening, Small hand, Barrel-shape... OMIM:271960
Dysosteosclerosis
Short sternum, Platyspondyly, Delayed eruption of teeth, Broad ribs, Sclerotic scapulae, Delayed ... OMIM:224300
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Bulbous nose, Overfolded helix, Limb hypertonia, Pectus carinatum, Thoracic kyphosco... ORPHA:481152
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Abnormal rib morphology,... ORPHA:93298
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... ORPHA:794
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Pectus excavatum, Furrowed tongue, Hypoplasia of the maxilla, Distal lower limb amyo... OMIM:300534
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Antley-Bixler Syndrome
Narrow chest, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostosis, Arachnodactyly, Femo... ORPHA:83
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Flat glenoid fossa, Genu valgum, Irregular iliac crest, Short long bone, Metaphyse... OMIM:250420
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Mesomelic arm ... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... ORPHA:1427
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Microretrognathia, Talipes equinovarus, Hand ol... ORPHA:1788
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... OMIM:608154
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Depressed nasal bridge, Broad nasal ti... OMIM:212720
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Fraser Syndrome
High palate, Dental malocclusion, Conductive hearing impairment, Anal atresia, Abnormality of the... ORPHA:2052
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Hearing abnormality, Abnormality of fibula ... ORPHA:252164
Familial Osteodysplasia, Anderson Type
Large earlobe, Bulbous nose, Clinodactyly of the 5th finger, Tooth malposition, Malar flattening,... ORPHA:2769
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Eruption failure, Persistence of primary teeth, Del... OMIM:600002
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sl... ORPHA:392
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... OMIM:300863
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Pectus carinatum, Gen... OMIM:182212
Wolf-Hirschhorn Syndrome
Cleft palate, Short philtrum, Abnormal lip morphology, Cleft upper lip, Rib fusion, Microtia, Mic... ORPHA:280
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal pinna morphology, Protruding ear, Abnormal muscle fiber morphology, Clinodactyly of the ... ORPHA:3068
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Microretrognathia, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormia... OMIM:616229
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Cleft palate, Right ventricular hypertrophy, Brachydactyly, Heari... OMIM:614261
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Microtia, Neonatal death, Congenital pyloric atresia, Anteverted nares, Unde... OMIM:612138
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Abnormality o... ORPHA:2869
Sheldon-Hall Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overla... ORPHA:1147
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... OMIM:170390
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... ORPHA:93324
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Narrow mouth, Convex nasal ridge, Cleft palate, Craniosynostos... OMIM:251230
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Zttk Syndrome
High palate, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Short philtr... OMIM:617140
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Cupped ear, Hypoplasia of the maxilla, Low-set ears, Wide nasal bridge OMIM:167730
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of fi... ORPHA:2215
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, 2-3 toe syndactyly... OMIM:236500
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Apnea, Cleft palat... OMIM:602483
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Depress... OMIM:608156
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... OMIM:201000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... OMIM:304120
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Hypoplasia of the maxilla,... ORPHA:79345
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... OMIM:602535
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... OMIM:129400
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Hypodontia, Abnormal Eustachian tube... ORPHA:199302
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Short ri... ORPHA:2347
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... OMIM:185800
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Bowing of the... OMIM:617952
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... OMIM:142900
Lowry-Maclean Syndrome
Convex nasal ridge, High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognat... ORPHA:2409
Dysostosis, Stanescu Type
Pectus excavatum, Convex nasal ridge, Tooth agenesis, Macroglossia, Massively thickened long bone... ORPHA:1798
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Short nose, Thoracic hypoplasia, Flexion contracture, Short ribs, Short femur, Micr... OMIM:616897
Distal Xq28 Microduplication Syndrome
High palate, Asthma, Microtia, Broad nasal tip, Recurrent upper respiratory tract infections, Abs... ORPHA:293939
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Pallor, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle musc... OMIM:608423
Autosomal Dominant Omodysplasia
Micrognathia, Short 1st metacarpal, Short humerus, Rhizomelia, Short palm, Patellar dislocation, ... ORPHA:93328
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Radial bowing, Thin r... OMIM:610915
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Back pain, Osteoarthritis of the small joints of the hand, De... ORPHA:93311
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Prominence of the premaxilla, Block vertebrae, Hemiv... OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Anal atresia, Cleft palate, Microtia, Micrognathia, Atresia of the external audi... OMIM:236670
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili... OMIM:169550
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Redundant skin, Microdontia, Hyp... ORPHA:782
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Micrognathia, Short humerus, Scoliosis, Rhizomelia, Stippled calci... OMIM:222765
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Malan Syndrome
Gingival overgrowth, Pectus excavatum, Narrow mouth, Everted lower lip vermilion, Retrognathia, A... OMIM:614753
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Micrognathia, Short neck, Micromelia, Short foot, Short tho... ORPHA:93299
Craniofaciofrontodigital Syndrome
Dental malocclusion, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Palm... OMIM:114620
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Shor... OMIM:194190
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Unicoronal synostosis, Anal atresia, Short ri... OMIM:616300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Jackson-Weiss Syndrome
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... ORPHA:1540
Cardiospondylocarpofacial Syndrome
Wide mouth, Bulbous nose, Cone-shaped epiphysis, Rib fusion, Congenital sensorineural hearing imp... OMIM:157800
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... OMIM:311300
Barber-Say Syndrome
High palate, Wide mouth, Bulbous nose, Microtia, first degree, Delayed eruption of teeth, Hypopla... OMIM:209885
Shprintzen-Goldberg Syndrome
Apnea, Pectus excavatum, Craniosynostosis, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:2462
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Absent sternal ossification, Microtia, Short ribs, Micrognathia, Trach... OMIM:613803
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Depressed nasal bridge,... OMIM:617895
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Otitis media, Abnormality of the dentition, Genu valgum, Thick nasa... ORPHA:581
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thoracic kyphosis, Rhizomelia, Broad thumb, Short 4... OMIM:619638
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Delayed closure of ... OMIM:607872
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Long thorax, Short long bone, An... OMIM:617925
Aarskog-Scott Syndrome
Large earlobe, Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Hyperextensibility of... OMIM:305400
Campomelic Dysplasia
Narrow chest, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing... ORPHA:140
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long b... ORPHA:90652
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... OMIM:271665
Mosaic Trisomy 8
Abnormal antihelix morphology, Narrow chest, Abnormal pinna morphology, Protruding ear, High pala... ORPHA:96061
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Severe... OMIM:200600
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Overhanging nasal tip, ... OMIM:619142
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Knee dislocation, Cleft palate, Malar flattening, Micrognathia, Dep... OMIM:108721
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Cleft palate, Depre... OMIM:312150
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Limb und... OMIM:166210
Doors Syndrome
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Broa... ORPHA:79500
Cohen Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... ORPHA:193
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Renal Dysplasia-Limb Defects Syndrome
High palate, Aplasia of the ulna, Abnormal pinna morphology, Narrow mouth, Convex nasal ridge, Sh... OMIM:266910
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Microretrognathia, Thin ribs, Coronal cran... OMIM:616294
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Short ribs, Micrognathia, ... OMIM:119600
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr... ORPHA:94068
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Brachydactyly, Thin ribs, Craniosynostosis OMIM:618265
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Carious teeth, Ulnar deviation of finger, Sh... OMIM:601559
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Slender long bone, Hypoplasia of the maxil... OMIM:613804
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Talipes equinovarus, Short ribs, Cone-shaped epiphyses of phalang... OMIM:225500
Cohen Syndrome
Facial hypotonia, Thoracic scoliosis, Convex nasal ridge, Macrodontia of permanent maxillary cent... OMIM:216550
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... OMIM:164745
Cornelia De Lange Syndrome
High palate, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Pyloric stenosis, S... ORPHA:199
Microtia
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Trisomy 1Q
Anal atresia, Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Ara... ORPHA:261344
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Conductive hearing impairment, Cleft upper lip, Cleft palate, Micrognathia, Abn... OMIM:601076
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... OMIM:245190
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Micrognathia, Darwin tubercle of helix, Unilateral cleft palate, Unilateral cle... OMIM:619122
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Con... ORPHA:87
Hypophosphatasia
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... ORPHA:436
Thanatophoric Dysplasia Type 1
Narrow chest, Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Pl... ORPHA:1860
Sillence Syndrome
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... ORPHA:3168
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... ORPHA:2491
Pontine Tegmental Cap Dysplasia
Sensorineural hearing impairment, Rib fusion, Ankle clonus, Aspiration, Dysphagia, Facial palsy OMIM:614688
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Carious teeth, Short fo... OMIM:244460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, Barrel-shape... OMIM:215140
Pallister-Hall Syndrome
Depressed nasal ridge, Cleft palate, Short nose, Radial head subluxation, Polydactyly affecting t... ORPHA:672
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Prominent nasal tip, Lower-limb joint contracture, Cleft palate, Tracheomalacia, Abnormal Eustach... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasi... OMIM:272460
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Delayed eruption of teeth, ... OMIM:309350
Frontorhiny
Congenital conductive hearing impairment, Cleft palate, Camptodactyly of finger, Bifid tongue, Lo... ORPHA:391474
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Cleft palate, Depressed nasal ridge,... OMIM:253290
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbel... ORPHA:56304
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Cone-shaped epiphysi... ORPHA:457395
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Atelosteogenesis Type I
Narrow chest, Talipes equinovarus, Joint dislocation, Short femur, Abnormal ossification involvin... ORPHA:1190
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Pallor ORPHA:71518
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Depressed nasal tip, Recurrent upper respiratory tract ... ORPHA:2399
Phaver Syndrome
Conductive hearing impairment, Overfolded helix, Depressed nasal bridge, Camptodactyly of finger,... ORPHA:2876
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... OMIM:601499
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
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Delayed eruption of p... OMIM:273050
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebra... ORPHA:1834
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Cleft palate, Microtia, Retrognathia, Micrognathia, Femoral bowing,... OMIM:616462
Marshall Syndrome
Sensorineural hearing impairment, High palate, Thick upper lip vermilion, Malar flattening, Cleft... ORPHA:560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Auditory Neuropathy And Optic Atrophy
Pallor, Hearing impairment OMIM:617717
3Mc Syndrome 2
Cleft upper lip, Diastasis recti, Torticollis, Hypoplasia of the musculature, Cleft palate, Promi... OMIM:265050
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Macroglossia, Recurrent upper respiratory tract infections, Chro... ORPHA:583
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Apnea, Otitis media, Pallor, Craniosynostosis, Premature loss of primary teeth, Del... ORPHA:667
Myopathy, Mitochondrial, And Ataxia
High palate, Pectus excavatum, Pallor, Micrognathia, Increased variability in muscle fiber diamet... OMIM:617675
Schneckenbecken Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Lateral clavicle hook, Short ribs, Increased fibular ... ORPHA:3144
Codas Syndrome
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Sc... ORPHA:1458
Radio-Renal Syndrome
Respiratory distress, Convex nasal ridge, High, narrow palate, Chylothorax, Retrognathia, Microgn... ORPHA:3015
Raine Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Depressed nas... OMIM:259775
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of fin... ORPHA:254528
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Glutamine Deficiency, Congenital
Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Erythema, Neonatal dea... OMIM:610015
Primary Lateral Sclerosis, Juvenile
Pallor, Dysphagia, Difficulty in tongue movements, Spasticity of facial muscles OMIM:606353
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, De... OMIM:269500
Dermatitis, Atopic
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis OMIM:603165
Pfeiffer Syndrome
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Depressed nasal ... OMIM:101600
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Orofaciodigital Syndrome Iii
Bulbous nose, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Mi... OMIM:258850
Cystic Fibrosis
Reduced forced expiratory volume in one second, Ileus, Asthma, Steatorrhea, Meconium ileus, Chron... OMIM:219700
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplasia of the radiu... OMIM:200980
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Absent thumb, Depressed nasal bridge, Short philtrum, Short nose, Sagittal craniosy... ORPHA:500150
Osteogenesis Imperfecta, Type X
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Micrognathia, Platyspondyly, Micromelia, Scol... OMIM:613848
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po... OMIM:613091
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Femoral bowing, Fibula... ORPHA:85165
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metatarsal osteolysis, Micrognathia, Bilateral elbow dislocation... OMIM:166300
Osteopathia Striata With Cranial Sclerosis
High palate, Apnea, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Delayed closure... OMIM:300373
Elsahy-Waters Syndrome
High palate, Bulbous nose, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Hypoplasi... OMIM:211380
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Narrow chest, Thin ribs, Triangular shaped distal phalanges of th... ORPHA:73230
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Bruck Syndrome 2
Talipes equinovarus, Femoral bowing, Platyspondyly, Wormian bones, Pectus carinatum, Elbow flexio... OMIM:609220
Peutz-Jeghers Syndrome
Intestinal bleeding, Multiple gastric polyps, Intussusception, Labial melanotic macule, Rectal pr... OMIM:175200
Craniolenticulosutural Dysplasia
Narrow chest, High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac... ORPHA:50814
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Cleft palate, Camptodactyly of finger, Bifid nose, Low-set, poster... ORPHA:306542
Pyknoachondrogenesis
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Micromelia, Hypop... ORPHA:3003
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Abnormality of the dentition, Broad ribs, Anteriorly placed anus... OMIM:151050
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia... ORPHA:1505
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:241530
Crane-Heise Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormally ossified vertebrae, Micrognathia,... ORPHA:1512
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
1P36 Deletion Syndrome
Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Pyloric stenosis, Rib fusion, Cl... ORPHA:1606
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Absent ossification of capital femoral epiphysis, Femoral bowing, Short neck, Plat... OMIM:245160
Spastic Paraplegia 16, X-Linked