Gene: Gsc MGI:95841

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.

Human diseases associated with Gsc (1 diseases)
Human diseases predicted to be associated with Gsc (879 diseases)

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		Micrognathia, High palate, Atresia of the external auditory canal, Narrow mouth, Conductive heari...	OMIM:602471

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

Disease	Matching phenotypes	Source
Cervical Rib	Cervical ribs	OMIM:117900
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix...	ORPHA:79113
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr...	ORPHA:3236
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Abnor...	ORPHA:1988
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Small thenar eminence, Microtia, Bi...	OMIM:239800
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Branchiootic Syndrome	Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma...	ORPHA:52429
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Lambotte Syndrome	Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Convex nasal ridge	OMIM:245552
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ...	OMIM:141400
Acrootoocular Syndrome	Delayed eruption of teeth, Small hypothenar eminence, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Otofaciocervical Syndrome	Scapular winging, Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix mo...	ORPHA:2792
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Johnson Neuroectodermal Syndrome	Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Protruding ear...	ORPHA:2316
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Nager Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Abnormal nasal morphology, Hypoplasia of the max...	ORPHA:245
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory ca...	ORPHA:2213
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r...	OMIM:173800
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing...	ORPHA:949
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag...	ORPHA:1488
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate,...	OMIM:610536
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec...	OMIM:616037
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect...	OMIM:617092
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ...	OMIM:300946
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Antev...	OMIM:611209
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Nasal polyposis, Wheezing, Recurrent pneumonia, Abnormal axonemal ...	OMIM:613808
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Chronic otitis media, Emphysema, Chronic sinusitis	OMIM:604571
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Absent inner and outer dynein a...	OMIM:606763
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Co...	ORPHA:1513
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Bifid uvula, Depre...	OMIM:301022
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b...	OMIM:106260
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ve...	ORPHA:2790
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ...	ORPHA:64755
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgagn...	OMIM:613309
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m...	OMIM:608940
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,...	OMIM:608257
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Atresia of the ex...	OMIM:123500
Deafness, X-Linked 7	Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ...	OMIM:301018
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin...	ORPHA:1703
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs...	OMIM:615444
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Craniof...	OMIM:122860
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an...	OMIM:601390
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Microgna...	OMIM:618393
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Posteriorly rotated ears, Dental crowding, Abnormality of the middle e...	ORPHA:2789
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the external auditory can...	ORPHA:3429
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re...	OMIM:614935
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia...	OMIM:615546
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Wheezin...	ORPHA:244
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv...	ORPHA:2097
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Hypoplasia of the pre...	ORPHA:2673
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal...	ORPHA:261295
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Atresia of the external auditory canal, Narrow mouth, Conductive heari...	OMIM:602471
Immunodeficiency 13	Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasi...	OMIM:615518
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal, Abno...	OMIM:221320
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ...	OMIM:268310
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ...	ORPHA:1231
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe...	ORPHA:2631
Aural Atresia, Congenital	Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal	OMIM:607842
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, U-Shaped upper lip vermilion, Thin upper lip vermilion, Depressed nasal br...	OMIM:601808
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Wide n...	OMIM:614701
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge...	ORPHA:628
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Hypoplastic nasal septum, Cutaneous finger syn...	OMIM:186500
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum,...	ORPHA:776
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, ...	OMIM:265000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Prominent nose, Coxa valga, Finger clinodactyly, Patellar subluxatio...	ORPHA:2958
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Anteverted nares, Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia,...	OMIM:123790
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Anosmia, Bronchiect...	OMIM:244400
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Narrow nasal bridge, Broad hallux phalanx, Toe syndactyly, Micrognathia, M...	ORPHA:3082
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse...	ORPHA:1832
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ...	OMIM:184460
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Smooth philtru...	OMIM:618737
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Clef...	ORPHA:261236
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ...	OMIM:211350
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Aggressive behavior, Celiac disease, Tapered finger, Bulbous nose, Sensorineural hea...	ORPHA:544488
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala...	ORPHA:1770
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
Aarskog-Scott Syndrome	Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th ...	ORPHA:915
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear	OMIM:618302
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Prominent nose, Pectus excavatum, Hi...	ORPHA:3242
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin...	ORPHA:2990
Aase-Smith Syndrome	Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal...	ORPHA:916
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Na...	OMIM:213980
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Atres...	ORPHA:93259
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares,...	OMIM:146510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Asthma, Nasal Polyps, And Aspirin Intolerance	Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction	OMIM:208550
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, ...	ORPHA:85279
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,...	OMIM:603457
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Dental crowd...	OMIM:614669
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec...	OMIM:618853
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Lethal Congenital Contracture Syndrome Type 1	Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the...	ORPHA:1486
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ...	ORPHA:1802
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural...	OMIM:620186
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis...	OMIM:620197
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au...	ORPHA:2010
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal...	ORPHA:2145
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Anotia...	ORPHA:268249
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microt...	ORPHA:2306
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Melnick-Needles Syndrome	Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ...	ORPHA:2484
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen...	ORPHA:2831
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Posteriorly rotated ears, Choanal atresia, Abnormality of the philtrum, Mis...	ORPHA:2759
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Anteverted ...	ORPHA:97360
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Underdeveloped...	ORPHA:77300
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Congenital diaphragmatic...	ORPHA:261112
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High...	OMIM:614188
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Sensorineural ...	ORPHA:261197
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal	OMIM:133705
Granulomatosis With Polyangiitis	Sinusitis, Oral ulcer, Skin ulcer, Respiratory insufficiency, Concave nasal ridge, Cough, Chronic...	OMIM:608710
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Abnormal pinna morphology, Underfolded helix, Camptodactyly of finger, Abnorma...	ORPHA:178303
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Posteriorly rotated ears, Thick nasal alae, Episodic tachypnea, Micrognathia...	ORPHA:163961
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent ...	ORPHA:1307
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scol...	OMIM:259440
Pai Syndrome	Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m...	ORPHA:1993
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth...	OMIM:177170
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Kbg Syndrome	Tented upper lip vermilion, Protruding ear, Widely-spaced maxillary central incisors, Oligodontia...	OMIM:148050
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the...	OMIM:600920
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction...	OMIM:243180
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal pa...	OMIM:154500
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Impulsivity, Broad nasal tip, Hypoplasia of the maxilla, Aggre...	ORPHA:293939
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,...	ORPHA:2662
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi...	ORPHA:582
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morpho...	ORPHA:93262
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Kapur-Toriello Syndrome	Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Atresia of the e...	ORPHA:2328
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Wormian bones, Posteriorly rotated ears, Dental crowding...	OMIM:130720
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Rib fusion, Cleft palate, Broad ph...	ORPHA:1394
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Atresia of the external auditory canal, Hearing impairment	ORPHA:3023
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat...	OMIM:246560
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Hypoplas...	ORPHA:2554
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib...	ORPHA:798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola...	ORPHA:2972
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ...	OMIM:156510
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Acrofacial Dysostosis 1, Nager Type	Posteriorly rotated ears, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, ...	OMIM:154400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Pectus c...	ORPHA:481152
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp...	ORPHA:920
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Nasal polyposis, Sinusitis, Intestinal obstruction, Malabsorption, Cough, Asthma, Respi...	ORPHA:183
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Protruding ear, Pectus carina...	ORPHA:192
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai...	ORPHA:99772
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco...	ORPHA:2370
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog...	OMIM:610967
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, High palate, Bifid uvula, Median cleft lip	OMIM:155145
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Thin ribs, Tibial bowing, Sl...	OMIM:259420
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathia, Short nec...	ORPHA:263508
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri...	ORPHA:3035
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Anteverted nares, Depressed nas...	OMIM:612921
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio...	ORPHA:85184
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Abnorm...	ORPHA:90653
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Promin...	OMIM:620370
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Choanal atresia, Cleft palate, Atresia of the external auditory canal,...	OMIM:612562
Cerebrocostomandibular Syndrome	Death in infancy, Micrognathia, Cleft palate, Glossoptosis, Atresia of the external auditory cana...	ORPHA:1393
Coxoauricular Syndrome	Microtia, Atresia of the external auditory canal, Hearing impairment	ORPHA:1508
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos...	OMIM:218600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Atresia of the external auditory canal	OMIM:601356
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the maxilla, Pectu...	OMIM:300676
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Dental crowding, Narrow nose, Underdeveloped nasal alae, Ankle flexion ...	OMIM:618175
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
14Q22Q23 Microdeletion Syndrome	Posteriorly rotated ears, Underdeveloped nasal alae, Micrognathia, Cupped ear, Downturned corners...	ORPHA:264200
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi...	ORPHA:50
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Respiratory insufficiency, Multiple su...	ORPHA:207
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal	OMIM:209770
Kagami-Ogata Syndrome	Long clavicles, Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Hypoplas...	OMIM:608149
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide anterior fo...	OMIM:269300
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Clinodactyly of the 5th finger, Conductive ...	ORPHA:264450
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac...	OMIM:218000
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi...	ORPHA:958
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia	ORPHA:93950
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo...	OMIM:187600
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Hearing ...	ORPHA:2021
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula...	OMIM:616716
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla...	ORPHA:228396
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl...	ORPHA:950
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Camptodactyly of finger, Ar...	ORPHA:83
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr...	ORPHA:763
Dysosteosclerosis	Micrognathia, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral e...	OMIM:224300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Fraser Syndrome 1	Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Abnormal pinna morphology, Depres...	OMIM:219000
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c...	ORPHA:93298
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Hyperactivity, Torticollis, Prominent fingertip pads, Wide nasal ridge, ...	ORPHA:251061
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h...	OMIM:171480
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip	ORPHA:2776
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with...	OMIM:608154
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Micrognathia, Ragged-red muscle fibers, Depressed nasal ridge, Generalized limb...	OMIM:600462
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Otitis media, Aspiration pneumoni...	ORPHA:581
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C...	ORPHA:2769
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ...	OMIM:253010
Eiken Syndrome	Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru...	OMIM:600002
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou...	ORPHA:280
Fraser Syndrome	Low-set, posteriorly rotated ears, Death in infancy, Anal stenosis, Cleft ala nasi, Depressed nas...	ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal pinna morphology, Prominent nasal br...	ORPHA:3068
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Cenani-Lenz Syndrome	High, narrow palate, Protruding ear, Short philtrum, Foot oligodactyly, Synostosis of carpal bone...	ORPHA:3258
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An...	OMIM:613717
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea...	ORPHA:2869
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin...	ORPHA:794
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum...	OMIM:194190
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Tibial bowing, Thin ribs, Bell...	OMIM:166210
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hearing impairment, Broad nasal tip, Micrognathia, Hypoplasia of the maxil...	OMIM:620157
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Conductive...	ORPHA:2215
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morph...	OMIM:123000
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Apnea, Micrognath...	OMIM:602483
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide...	OMIM:182212
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High...	OMIM:617140
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears	OMIM:167730
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Underdeveloped nasal alae, Flexion contracture, Congenital pyloric atresia, Mic...	OMIM:612138
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Cleft upper lip, Pectus ex...	OMIM:305400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cuppin...	OMIM:300232
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de...	ORPHA:83463
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Neonatal respirato...	ORPHA:79345
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E...	ORPHA:199302
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs...	OMIM:305620
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wo...	OMIM:617952
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Ulnar deviation of fin...	ORPHA:1147
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl...	OMIM:619142
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Orofacial cleft, High palate, Thickened helices, Conductive hearing impair...	OMIM:607872
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Beaded ribs, Micrognathia, Flexion contracture, Large fleshy ears, Anteverted nares, Decreased fi...	OMIM:616897
Microphthalmia, Syndromic 12	Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Broad nasal tip, Wide nasa...	OMIM:615524
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Cleft upper lip, Flexion co...	OMIM:312150
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Micrognath...	ORPHA:513456
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Cong...	ORPHA:2409
Dysostosis, Stanescu Type	Narrow nasal bridge, Persistent open anterior fontanelle, Bowing of the long bones, Abnormal dent...	ORPHA:1798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Micrognathia, Cleft upper lip, Cleft palate, Congenital contracture, Microtia, Atresia of the ext...	OMIM:236670
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Anteverted nares...	OMIM:157800
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Redundant skin, Hypoplasia of the maxilla, Wide nasal brid...	ORPHA:782
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Shprintzen-Goldberg Syndrome	Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Pectus carin...	ORPHA:2462
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Wide...	OMIM:209885
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Stenosis of the external auditory canal, Atresia of the external auditory...	OMIM:614900
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal...	OMIM:619638
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fus...	OMIM:304050
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch...	ORPHA:93299
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal bridge, Narr...	OMIM:617925
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth, Widely spaced teeth, ...	ORPHA:199
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Mosaic Trisomy 8	Wide nose, Abnormal pinna morphology, Anteverted nares, Camptodactyly of finger, Micrognathia, Br...	ORPHA:96061
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Brachydactyly, Depressed nasal bridge, Thoracic hypoplasia, Pos...	OMIM:617895
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio...	OMIM:166250
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Proximal placement of thumb, Abnormal repetitive mannerisms, Self-mutilati...	OMIM:212066
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Cleft palate, Low-set ears, Ri...	OMIM:614261
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Sm...	OMIM:601559
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Conductive hearing impairme...	OMIM:601076
Doors Syndrome	Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Anteverted...	ORPHA:79500
Atelosteogenesis, Type Iii	Radial bowing, Depressed nasal bridge, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow...	OMIM:108721
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Spin...	OMIM:307800
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Depres...	OMIM:253290
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Pallister-Hall Syndrome	Depressed nasal ridge, Bifid uvula, Paroxysmal bursts of laughter, Low-set, posteriorly rotated e...	ORPHA:672
Osteopetrosis, Autosomal Dominant 2	Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the vertebral endplates, Ab...	OMIM:166600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing...	OMIM:614856
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn...	ORPHA:89936
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, 2-3 t...	OMIM:236500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:264700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Micrognathia, Hypoplasia ...	ORPHA:96334
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,...	OMIM:602557
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Retrognathia, Brachydactyly	OMIM:618265
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,...	OMIM:129400
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Barrel-shaped chest, Abnormally ossi...	ORPHA:94068
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Overlapping fingers, Micrognathia, Increased variability in musc...	OMIM:617022
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Depressed nasal bridge, Camptodactyly of finger, Co...	ORPHA:261344
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Recurrent upper respiratory tract infections, Thick lower lip ve...	ORPHA:583
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ...	OMIM:613804
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca...	OMIM:147891
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Glass Syndrome	Dental crowding, Apnea, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodont...	OMIM:612313
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:277440
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Pontine Tegmental Cap Dysplasia	Facial palsy, Sensorineural hearing impairment, Rib fusion, Ankle clonus, Dysphagia, Aspiration	OMIM:614688
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Atresia of the exte...	OMIM:617666
Greenberg Dysplasia	Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hyp...	OMIM:215140
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ...	OMIM:244460
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Protrudi...	ORPHA:261144
Cohen Syndrome	Thoracic scoliosis, Short metacarpal, Facial hypotonia, Prominent nasal bridge, Micrognathia, Hyp...	OMIM:216550
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Coxa v...	OMIM:119600
Cole-Carpenter Syndrome 2	Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, La...	OMIM:616294
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ...	OMIM:619122
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi...	OMIM:613848
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Thoracic hypoplasia, Bowing of the legs, L...	OMIM:100800
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Micrognathia, Pectus excavatum, Distal amyotrophy, High palate, Pallor, In...	OMIM:617675
Spastic Paraplegia 16, X-Linked	Restlessness, Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb musc...	OMIM:300266
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed nasal bridge, ...	OMIM:608156
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Phaver Syndrome	Broad hallux phalanx, Posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, ...	ORPHA:2876
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl...	ORPHA:397973
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle bone morpho...	OMIM:222765
Frontorhiny	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti...	ORPHA:391474
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru...	OMIM:601499
Cystic Fibrosis	Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expiratory volume in on...	ORPHA:586
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Hypopla...	ORPHA:3015
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume...	OMIM:164745
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bow...	OMIM:616462
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Short neck, Missing ribs, Abnormal rib morphology, Abnorma...	ORPHA:1834
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Vertigo, Pallor	ORPHA:71518
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cupped ear, Recur...	ORPHA:2399
Primary Lateral Sclerosis, Juvenile	Pseudobulbar paralysis, Spasticity of facial muscles, Pallor, Dysphagia, Difficulty in tongue mov...	OMIM:606353
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Apnea, Premature loss of primary teeth, Cran...	ORPHA:667
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
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior...	OMIM:619698
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris...	OMIM:122880
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Respiratory ...	OMIM:224410
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,...	OMIM:265050
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi...	OMIM:607634
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Cystic Fibrosis	Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced v...	OMIM:219700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Flexion contracture of finger, Redundant neck skin, Anteverted nares, Depressed nasal b...	ORPHA:254528
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor, Anorexia	ORPHA:79283
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micro...	OMIM:200980
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment...	ORPHA:861
Sclerosteosis 1	Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Depressed nasal bridge, F...	OMIM:269500
1P36 Deletion Syndrome	Depressed nasal ridge, Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal re...	ORPHA:1606
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Syndactyly, Tracheomalacia, Micrognathia, Hypoplasia of the m...	ORPHA:314679
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormal fibul...	ORPHA:252164
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl...	OMIM:613091
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo...	ORPHA:73230
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme...	ORPHA:2095
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m...	ORPHA:1458
Raine Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Choanal stenosis, High palate, Microdontia, ...	OMIM:259775
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Orofaciodigital Syndrome Iii	Pectus excavatum, Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, ...	OMIM:258850
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema...	ORPHA:500150
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebra...	OMIM:616507
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Broad nasal tip, Thickened cortex of l...	ORPHA:488434
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala...	OMIM:300373
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s...	OMIM:166300
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H...	OMIM:234100
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Tarp Syndrome	Posteriorly rotated ears, Anteverted nares, Rocker bottom foot, Micrognathia, Pectus excavatum, P...	OMIM:311900
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Emanuel Syndrome	Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni...	ORPHA:96170
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Erythema, Flexion...	OMIM:610015
Neuropathy, Congenital Hypomyelinating, 3

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