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Gene: Gsc MGI:95841

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
goosecoid homeobox
Synonyms:
goosecoid

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Narrow mouth... 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
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal dental enamel mor... ORPHA:3236
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Bulbous nose, Wide mout... OMIM:619981
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Cleft upp... OMIM:239800
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... OMIM:609166
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Lambotte Syndrome
Atresia of the external auditory canal, Retrognathia, Narrow mouth, Convex nasal ridge, Macrotia OMIM:245552
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Cleft pal... OMIM:141400
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Otofaciocervical Syndrome
Depressed nasal bridge, Conductive hearing impairment, Atresia of the external auditory canal, An... ORPHA:2792
Acrootoocular Syndrome
Low-set ears, Wide nasal base, High, narrow palate, Small hypothenar eminence, Conductive hearing... ORPHA:2980
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... ORPHA:2316
Kyphomelic Dysplasia
Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Undulate ribs, Bow... ORPHA:1801
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Nager Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... ORPHA:245
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Branchial cyst, Stenosi... ORPHA:107
Hypertelorism-Microtia-Facial Clefting Syndrome
Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Median cl... ORPHA:2213
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:610536
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Poland Syndrome
Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca... ORPHA:1488
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Cleft palate... OMIM:300946
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, High palate, Sho... OMIM:611209
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... ORPHA:1513
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormal epiphysis morphology, Scoliosis, Bowing of the long bones, Metaphyseal ch... ORPHA:2501
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern... OMIM:301022
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:123500
Mhc Class I Deficiency 1
Nasal polyposis, Skin ulcer, Chronic otitis media, Chronic sinusitis OMIM:604571
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Spina bi... ORPHA:64755
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Hearing impairment, Respiratory distress, Otitis media, Sinusitis, Absent inner ... OMIM:606763
Diamond-Blackfan Anemia 10
Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Atre... OMIM:613309
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ante... ORPHA:1703
Deafness, X-Linked 7
Wide nasal bridge, Atresia of the external auditory canal, Hearing impairment, Stenosis of the ex... OMIM:301018
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Conductive hearing impairment, Atresia of the... OMIM:608257
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the exter... OMIM:601390
Fetal Akinesia Deformation Sequence 4
Low-set ears, Wide nasal bridge, Skeletal muscle atrophy, Retrognathia, Arthrogryposis multiplex ... OMIM:618393
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Craniofacial hyperostosis, Cran... OMIM:122860
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal cupping of metacarpals, Abnormal pelvic girdle bone morphology, Abnormality of the ve... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior... OMIM:608728
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Abnormality of the dentition, Chronic otitis media, Conductive hearing impairment, Atresia of the... OMIM:221320
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairme... 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
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Non-midline cleft of the uppe... ORPHA:3429
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:617092
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm... OMIM:277300
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, High, narrow palate, Conductive hearing impairment, Atre... ORPHA:2789
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing... OMIM:609616
Neurofaciodigitorenal Syndrome
Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Atresia of the exter... ORPHA:2673
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal epiphysis morph... ORPHA:93351
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Nasal congestion, Recurrent otitis media, Chronic sinusitis, Absent outer dynein... OMIM:616037
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent ... OMIM:615518
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Pectus carinat... ORPHA:261295
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Narrow mouth... OMIM:602471
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... OMIM:616367
Barber-Say Syndrome
Wide nasal bridge, Delayed eruption of teeth, Atresia of the external auditory canal, Hearing imp... ORPHA:1231
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Chromosome 18Q Deletion Syndrome
Depressed nasal bridge, Bifid uvula, Conductive hearing impairment, Atresia of the external audit... OMIM:601808
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:614935
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Diastrophic Dysplasia
Ulnar deviation of finger, Joint dislocation, Elbow dislocation, Micromelia, Short finger, Campto... ORPHA:628
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Short philtrum, Mandibular prognathia, Macrotia ORPHA:93945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact... ORPHA:1507
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal, Hyposmia OMIM:607842
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... OMIM:268310
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Short nose, Syndactyly, Pectus... OMIM:614701
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Thick upper... OMIM:186500
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Frontonasal Dysplasia 1
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Broad nasal tip, Conductive heari... OMIM:136760
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Depressed nasal bridge, Bifid uvula, Natal tooth, Atresia of the external audito... OMIM:123790
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Thin upper lip vermilion, Smooth philtru... OMIM:618737
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Abnormal form of the vertebr... ORPHA:2311
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical v... ORPHA:2635
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Low-set ears, Retrognathia, Finger clinodactyly, Prominent nose, Supernumerary ribs, Patellar sub... ORPHA:2958
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Bilateral... OMIM:106260
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:615444
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipe... OMIM:265000
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Ulnar deviation of finger, Depressed nasal bridge, Hypoplasia of the maxil... ORPHA:1529
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:608647
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndacty... ORPHA:3082
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Abno... ORPHA:276422
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morph... ORPHA:2180
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Oral-pharyngeal dy... ORPHA:199306
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C... ORPHA:474
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Sprengel anomaly, Microdonti... OMIM:213980
Lipoid Proteinosis
Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Abnorm... ORPHA:530
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Stap... OMIM:184460
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short distal phalanx of finger, Hypoplasia of the ... ORPHA:1248
16P13.11 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Self-injurious behavior, Atresia of the external auditory c... ORPHA:261236
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Short columella, Abnor... ORPHA:1770
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, ... OMIM:211350
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall... ORPHA:949
Primary Ciliary Dyskinesia
Nasal polyposis, Conductive hearing impairment, Hearing impairment, Nasal congestion, Recurrent o... ORPHA:244
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Everted lower lip vermilion, Short foot, Abnormal pinna morphology... ORPHA:915
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Retrognathia, S... OMIM:618853
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... ORPHA:3104
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Choanal atresia, Anosmia, Conductive hearing impairment, Atresia of the external a... OMIM:603457
Pfeiffer Syndrome Type 2
Low-set ears, Choanal atresia, Depressed nasal bridge, Atresia of the external auditory canal, In... ORPHA:93259
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Head-banging, Hear... OMIM:182290
Renpenning Syndrome
High, narrow palate, Skeletal muscle atrophy, Broad columella, Abnormal rib morphology, Macrodont... ORPHA:3242
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Anteverted nares, Micrognathia, Aplasia/Hypoplasi... ORPHA:2306
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Protrud... ORPHA:85279
Pallister-Hall Syndrome
Postaxial foot polydactyly, Toe syndactyly, Atresia of the external auditory canal, Natal tooth, ... OMIM:146510
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... OMIM:252100
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Micrognat... ORPHA:1486
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... OMIM:607326
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Auriculocondylar Syndrome 2A
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... OMIM:614669
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Delaye... OMIM:112350
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... OMIM:602271
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Tapered toe, Retrognathia, Celiac disease, Bulbous nose, Sensorineural h... ORPHA:544488
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Conductive hearing impairment, Chronic sinusitis, Chronic rhinitis, Abs... OMIM:244400
Gorlin Syndrome
Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Arachnodactyly, Rib fusion, Brac... ORPHA:377
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, M... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... ORPHA:2010
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Wide nose, Coronal ... OMIM:614188
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Malar flattening, Brachydactyly, ... ORPHA:2145
Mycophenolate Mofetil Embryopathy
Atresia of the external auditory canal, Hearing impairment, Anotia, Micrognathia, Congenital diap... ORPHA:268249
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... ORPHA:2522
Robinow Syndrome
Low-set ears, Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in er... ORPHA:97360
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Finger syndactyly, Hearing impairment, Micrognathia, High palate, Symphalangism aff... ORPHA:2990
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Anisospondyly, Delayed eruption of... ORPHA:2484
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Sensorineural heari... ORPHA:261197
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae, Cervical ribs,... ORPHA:77300
Monosomy 9P
Low-set ears, Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Atresia of t... ORPHA:261112
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Pyloric stenosis OMIM:133705
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, Ab... ORPHA:1452
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Deviation of finger, Anteve... ORPHA:2412
8Q22.1 Microdeletion Syndrome
Low-set ears, Depressed nasal ridge, Wide nasal bridge, Hypoplasia of the maxilla, Abnormality of... ORPHA:178303
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Multiple rib fractures, Wormian bones... OMIM:259440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Narro... OMIM:618395
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Abnor... ORPHA:1307
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Carious teeth, Joint dislocation, Abnormal epiphysis morphology,... ORPHA:582
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ... ORPHA:2616
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Kbg Syndrome
Ulnar deviation of the 2nd finger, Widely-spaced maxillary central incisors, Macrotia, Syndactyly... OMIM:148050
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Treacher Collins Syndrome 1
Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Micrognat... OMIM:154500
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... ORPHA:99772
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Depressed nasal brid... ORPHA:2662
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Atresia of the external auditory canal, Hearing impairment, Intestinal pseud... OMIM:243180
Diamond-Blackfan Anemia 7
Choanal atresia, Small hypothenar eminence, Atresia of the external auditory canal, Hearing impai... OMIM:612562
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Fibrochondrogenesis 1
Low-set ears, Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l... OMIM:228520
Cerebrofaciothoracic Dysplasia
Narrow chest, Cleft upper lip, Low-set, posteriorly rotated ears, Wide mouth, Rib fusion, Sprenge... ORPHA:1394
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Bulbous nose, Orofa... ORPHA:2328
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Meckel diverticulum, Retrognathia, Thick nasal alae, Episodic tachypnea, Micrognath... ORPHA:163961
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Broad thumb, Micrognathia, Open mouth, Arachnodactyly, Long nose, High palate, Hype... OMIM:309520
Cornelia De Lange Syndrome 6
Low-set ears, Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Sh... OMIM:620568
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Genu valgum, Beaking of vertebral bodie... ORPHA:1159
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal form of the vertebral bodies, Abn... ORPHA:3344
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Retrognathia... OMIM:154400
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Broad thumb, Hearing impairment, Arachnodactyly, High palate, Thoracic kyphoscolios... ORPHA:481152
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Abnormal ... OMIM:246560
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, High, narrow palate, Micro... ORPHA:2554
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Narrow ... ORPHA:85166
Granulomatosis With Polyangiitis
Skin ulcer, Nasal mucosa vasculitis, Oral ulcer, Sinusitis, Concave nasal ridge, Chronic otitis m... OMIM:608710
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Malar f... ORPHA:2972
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal lip morphology, Aplasia/Hypoplasia of ... ORPHA:2759
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi... ORPHA:798
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hypopl... ORPHA:920
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, High palate, Restlessness, Short foot, Macrotia, Hypoplasia of the maxilla, Distal ... OMIM:300534
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Vertebral wedgi... OMIM:610967
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Apnea, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Sensorineural hearing impairment... ORPHA:192
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, Nasal polyposis, High palate OMIM:155145
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Thin ribs, Metaphyseal cupping of metacarpals, Depressed nasal ridge, Abnormality o... ORPHA:163966
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Abnormal middle ear morphology, Abnormal pi... OMIM:219000
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Hypoplasia of the maxil... ORPHA:293939
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metacarpa... ORPHA:2370
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo... ORPHA:2050
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... ORPHA:93316
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Tibial bowing, B... OMIM:259420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abno... ORPHA:93262
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Short palm, Flat acetabular ... OMIM:300106
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Prominent nasal bridge, Pectus excavat... OMIM:300676
Three M Syndrome 2
Thin ribs, Short 5th finger, Depressed nasal bridge, Pectus carinatum, Dental malocclusion, Slend... OMIM:612921
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Cog1-Cdg
Posterior rib gap, Rhizomelia, Micrognathia, Butterfly vertebrae, Vertebral segmentation defect, ... ORPHA:263508
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiph... ORPHA:90653
Recon Progeroid Syndrome
Skeletal muscle atrophy, Dental crowding, Underdeveloped nasal alae, Dry skin, Anteverted nares, ... OMIM:620370
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Death in inf... ORPHA:1393
Baller-Gerold Syndrome
Low-set ears, Erythema, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mout... OMIM:218600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:1508
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes equi... OMIM:108720
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly, Abnormal rib morphology ORPHA:2643
14Q22Q23 Microdeletion Syndrome
Cupped ear, Atresia of the external auditory canal, Hearing impairment, Underdeveloped nasal alae... ORPHA:264200
Aicardi Syndrome
Block vertebrae, Small hand, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs, Sup... ORPHA:50
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Hip dislocation, Abnormality of the ankle, Abnormal pelvic girdle bone morphology,... ORPHA:968
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Warburg-Cinotti Syndrome
Low-set ears, Ankle flexion contracture, Hypoplasia of the ear cartilage, Conductive hearing impa... OMIM:618175
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Atresia of the external auditory canal OMIM:209770
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Carious teeth, Natal tooth, Flared metaphysis, Broad long bones, Broad ri... OMIM:269300
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Short femoral neck, Short humerus, Thoracic scoliosis, Talipes equinovarus, ... OMIM:616716
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia, Macrotia ORPHA:93950
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Pelviscapular Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Abnormality of the joint spac... ORPHA:93333
Acrodysostosis
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... ORPHA:950
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Na... ORPHA:207
Wolf-Hirschhorn Syndrome
Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Short hallux, ... ORPHA:280
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial s... ORPHA:83
Meier-Gorlin Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Atresia of the external a... OMIM:224690
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Benign Schwannoma
Nasal polyposis, Vertigo, Hearing abnormality, Vestibular schwannoma, Intestinal polyposis, Abnor... ORPHA:252164
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Bilateral... OMIM:253010
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Narrow pelvi... OMIM:600002
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Abnormal joint morphology, Fibular bowing, M... ORPHA:1427
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve... OMIM:608149
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Spinal can... OMIM:307800
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal rib morphology, Micrognathia, Talipes equinovarus, Short neck,... ORPHA:93298
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Intestinal obstruction, Myositis, Dysphagia, Arthritis, Sinusitis, Purpura ORPHA:183
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short... ORPHA:439822
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathi... OMIM:257850
Dysosteosclerosis
Natal tooth, Micrognathia, Increased intervertebral space, Diaphyseal undertubulation, Irregular ... OMIM:224300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Skeletal muscle atrophy, Long ... ORPHA:251061
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Macrotia, Limb muscle weak... OMIM:218000
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Depressed nasal ridge, Bifid femur, Carious teeth, Elbow dislocation, Abnormal... ORPHA:2769
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Conical tooth, Diastema, Genu valgum, Long thorax, Postaxial polydacty... OMIM:619142
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Fraser Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Abnormality of the middle e... ORPHA:2052
Peutz-Jeghers Syndrome
Nasal polyposis, Abnormality of the nose, Neoplasm of the colon, Neoplasm of the nose, Stomach ca... ORPHA:2869
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi... ORPHA:3320
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly... OMIM:182212
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Stenosis of the medullary c... ORPHA:93324
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morph... ORPHA:3068
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislo... ORPHA:3258
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th... OMIM:613717
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ... OMIM:620157
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Broad fingertip, Finger joint hypermobility, High ... OMIM:212720
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Bowing of the long bones, Wo... OMIM:617952
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,... ORPHA:1540
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Delaye... ORPHA:794
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,... OMIM:602483
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Low-set ears, Thin ribs, Anterior rib cupping, Flattened epiphysis, High palate, Broad nasal tip,... OMIM:300232
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Anteverted nares, Congenital pyloric atresia, Neonatal death, Flexion ... OMIM:612138
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear OMIM:167730
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Sensorineural hearing impairment, Radioulnar synostosis, Sho... OMIM:194190
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Zttk Syndrome
Low-set ears, Small hand, Narrow mouth, High palate, Short foot, Short nose, Hypoplasia of the ma... OMIM:617140
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... OMIM:170390
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Rhizomelia, Microretrognathia, Narrow chest, Bowing of the long bones, Wormian bon... OMIM:616229
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Hearing impa... ORPHA:782
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of... OMIM:305400
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Congenita... OMIM:615524
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba... OMIM:169550
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Thin ribs, Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger,... OMIM:312150
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Overlapping fingers, Micrognathia, A... ORPHA:1147
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Polyphagia, High palate, Shor... OMIM:607872
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Hearin... OMIM:620099
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Enlarge... OMIM:157800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Depressed nasal ridge, Generalized limb muscle atrophy, Micrognathia, Pallor, Ragged-red muscle f... OMIM:600462
Osteogenesis Imperfecta, Type Viii
Thin ribs, Dentinogenesis imperfecta, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, ... OMIM:610915
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... OMIM:123000
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f... OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin... OMIM:608940
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Lowry-Maclean Syndrome
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, High, narrow palate, Pyloric stenosis, ... ORPHA:2409
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Narrow mouth, Arachnodactyly, Ulnar deviation of finger, Downturned corners of... ORPHA:2215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Muscular dystrophy, Congenital contracture, Atresia of the external auditory canal,... OMIM:236670
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc... ORPHA:93328
Cornelia De Lange Syndrome
Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hernia, Sensorineu... ORPHA:199
Shprintzen-Goldberg Syndrome
Low-set ears, Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bo... ORPHA:2462
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... OMIM:620601
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Auriculocondylar Syndrome 3
Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o... OMIM:615706
Barber-Say Syndrome
Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Dry skin, Micrognathia, High pala... OMIM:209885
Atelosteogenesis, Type Iii
Depressed nasal bridge, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bo... OMIM:108721
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High pa... OMIM:166250
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Abnormal pelvic girdle bone morphology, Stippled calcification proximal humeral epiph... OMIM:222765
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor... OMIM:619638
Rapp-Hodgkin Syndrome
Carious teeth, Hearing impairment, Velopharyngeal insufficiency, Recurrent otitis media, Dry skin... OMIM:129400
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs, Supernumerary r... OMIM:304050
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Achondrogenesis Type 1A
Narrow chest, Micromelia, Micrognathia, Multiple rib fractures, Short neck, Short thorax, Short f... ORPHA:93299
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of... OMIM:305620
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Atresia of the external auditory canal, Bilateral cleft ... OMIM:614900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Macrotia, Cleft... OMIM:616300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Mosaic Trisomy 8
Narrow chest, Broad nasal tip, Arthrogryposis multiplex congenita, Hearing impairment, Camptodact... ORPHA:96061
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Abnormal pinn... OMIM:617925
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Sen... ORPHA:193
Symphalangism, Proximal, 1A
Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Aplasia/Hypoplasi... OMIM:185800
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, 11 pairs of ribs, Femoral bowing, Micro... ORPHA:140
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Depressed nasal ridge, Broad nasal tip, Abnormality of the costoc... ORPHA:79345
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Short distal phalanx of finger, Hypoplasia of the maxilla, Hearing impairment, Clin... OMIM:614261
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Open mouth, Protruding tongue, Sensorineural hearing impairment, Everted lower lip ... OMIM:212066
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Thick low... ORPHA:583
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Wide nasal bridge, Thoracic hypoplasia, Flared metaphysis, Large fleshy ears, Decre... OMIM:616897
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Irregular dentition, D... OMIM:602535
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard palate, Supernumerary ... OMIM:619122
Doors Syndrome
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Short lingual frenulum, Op... ORPHA:79500
Orofaciodigital Syndrome Xix
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... OMIM:620107
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Depressed nasal bridge, Narrow chest, Thoracic hypoplasia, Latera... OMIM:617895
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Microretrognathia, Bulbous nose, Anteverted nares, Redundant neck skin, Neonatal de... OMIM:236500
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasi... OMIM:601812
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe... OMIM:600081
X-Linked Hypophosphatemia
Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyperostosis, Genu varum, Arthrit... ORPHA:89936
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Amyoplasia, Micr... OMIM:253290
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c... OMIM:620369
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis imperfecta, Microretrognath... OMIM:616294
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Delayed eruption of teeth, Bulgin... OMIM:264700
Osteogenesis Imperfecta, Type X
Thin ribs, Dentinogenesis imperfecta, Rhizomelia, Narrow chest, Platyspondyly, Micromelia, Thorac... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Wide distal femoral metaphysis, Femor... OMIM:614856
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Brachydactyly, Craniosynostosis OMIM:618265
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Cleft upper lip, Micrognathia, Sprengel anomaly, Abnormal rib morp... OMIM:601076
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Micrognathia, Barrel-shaped chest, Neona... OMIM:215140
Lethal Congenital Contracture Syndrome 10
Low-set ears, Increased variability in muscle fiber diameter, Narrow chest, Narrow palate, Long p... OMIM:617022
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti... OMIM:225500
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Toe syndactyly, Microretrogna... ORPHA:261344
Glass Syndrome
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Long nose, High palate, Restlessness, P... OMIM:612313
Stuve-Wiedemann Syndrome 1
Low-set ears, Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, ... OMIM:601559
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Delayed pubic bone ossification, Dela... OMIM:119600
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lumbar kyphosis in infancy, Fe... OMIM:100800
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap... ORPHA:436
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Delayed eruption o... OMIM:277440
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Underdeveloped nasal alae, Intestinal malro... OMIM:617666
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Abnormal antihelix morphology, ... ORPHA:261144
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed closure of the anterior fontanel... OMIM:244460
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minima... ORPHA:1190
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bon... ORPHA:1860
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... ORPHA:2876
Pallister-Hall Syndrome
Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing... ORPHA:672
Nablus Mask-Like Facial Syndrome
Low-set ears, Joint contracture of the hand, Clinodactyly, Narrow mouth, Short hallux, Everted lo... OMIM:608156
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Lower limb muscle weakness, Facial hypotonia, Restlessness, Lower limb... OMIM:300266
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... ORPHA:85167
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Anterior concavi... OMIM:309350
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Hearing impairment, Micrognath... OMIM:617675
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bell-shaped thorax,... ORPHA:56304
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Microdontia, Hyp... OMIM:601499
Frontorhiny
Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly rotated ears, Congenital... ORPHA:391474
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Hearing impairment, Delayed eruption of teeth, Apnea... ORPHA:667
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Pallor, Torticollis ORPHA:71518
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... ORPHA:560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... OMIM:122880
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Vert... ORPHA:1834
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... ORPHA:2399
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Dental crowding, Decreased muscle mass, Long philtru... OMIM:130720
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Pallor, Ragged-red muscle fibers, Dysphagia, Generalized amyotrophy OMIM:613561
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Raine Syndrome
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow ... OMIM:259775
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Pseudobulbar paralysis, Pallor, Spasticity of facial muscles, Dys... OMIM:606353
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Broad clavicle... OMIM:269500
1P36 Deletion Syndrome
Delayed cranial suture closure, Narrow mouth, Myopathy, Sensorineural hearing impairment, Abnorma... ORPHA:1606
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Pate... OMIM:613803
Apert Syndrome
Choanal atresia, Depressed nasal bridge, Toe syndactyly, Conductive hearing impairment, Finger sy... ORPHA:87
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
17Q24.2 Microdeletion Syndrome
Wide nasal bridge, Tooth malposition, Otosclerosis, Broad thumb, Abnormality of the ankle, Upper ... ORPHA:529962
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Anorexia ORPHA:79283
Radio-Renal Syndrome
Micromelia, Retrognathia, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hypopl... ORPHA:3015
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
3Mc Syndrome 2
Wide nasal bridge, Hypoplasia of the musculature, Caudal appendage, Hearing impairment, Downturne... OMIM:265050
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus OMIM:614688
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Conductive hearing impairment, Aplasia/H... ORPHA:2095
Meier-Gorlin Syndrome 4
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Lateral clavicle hoo... OMIM:613804
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, E... ORPHA:1106
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Microdontia, Short sternum, ... OMIM:258850
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Elsahy-Waters Syndrome
Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, W... OMIM:211380
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus... OMIM:616507
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Abnormality of the middle ear, High palate, Rectovaginal f... ORPHA:861
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... ORPHA:1458
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Narrow ches... ORPHA:50814
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Sternocleidomastoid amyotrophy, Small hand, Broad nasal tip, Broad femoral neck,... ORPHA:488434
Tarp Syndrome
Low-set ears, Wide nasal bridge, Prominent antihelix, Clinodactyly, Meckel diverticulum, Antevert... OMIM:311900
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Fibular aplasia, ... ORPHA:93323
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolys... OMIM:166300
Peutz-Jeghers Syndrome
Nasal polyposis, Intestinal bleeding, Intussusception, Labial melanotic macule, Rectal prolapse, ... OMIM:175200
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod... ORPHA:85165
Crane-Heise Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger s... ORPHA:1512
Bruck Syndrome 2
Platyspondyly, Pectus carinatum, Pterygium, Elbow flexion contracture, Femoral bowing, Knee flexi... OMIM:609220
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Femoral bowing, Biconcave flattened vertebrae, Wormian b... OMIM:166200
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Rhizomelia, Narrow chest, Micromelia, Delayed cranial suture closure, ... OMIM:610682
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... OMIM:300373
Emanuel Syndrome
Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, Congen... ORPHA:96170
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductive hearing ... ORPHA:306542
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Abnormality of the verteb... OMIM:607634
Cerebrofacioarticular Syndrome
Wide nasal bridge, Self-injurious behavior, Hypoplasia of the maxilla, Anal stenosis, Conductive ... ORPHA:314679
Microcephaly-Micromelia Syndrome
Low-set ears, Narrow chest, Absent thumb, Short tibia, Oligodactyly, Micrognathia, Narrow mouth, ... OMIM:251230
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945