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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	Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, Re...	OMIM:618186
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul...	OMIM:610682
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Bruck Syndrome 2	Elbow flexion contracture, Pectus carinatum, Femoral bowing, Knee flexion contracture, Platyspond...	OMIM:609220
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs, Abnormal rib morphology, Orofa...	ORPHA:3301
Osteogenesis Imperfecta, Type I	Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermob...	OMIM:166200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia...	ORPHA:306542
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Rheumatic Fever	Sinusitis, Epistaxis, Anorexia, Recurrent pharyngitis, Erythema, Aplasia/Hypoplasia of the abdomi...	ORPHA:3099
Peutz-Jeghers Syndrome	Nasal polyposis, Rectal prolapse, Clubbing, Multiple gastric polyps, Oral melanotic macule, Hamar...	OMIM:175200
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradia...	OMIM:251230
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Abnormal pinna morphology, Depressed nasal bridge, Congenital diaph...	OMIM:614437
Pyknoachondrogenesis	Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Poo...	ORPHA:3003
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond...	OMIM:117650
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Mic...	OMIM:114290
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Abnormality of the wri...	ORPHA:529962
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Sensorineural hearing impair...	ORPHA:3378
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Pallor	ORPHA:90064
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Cyclic Vomiting Syndrome	Attention deficit hyperactivity disorder, Pallor, Anorexia, Hearing impairment	OMIM:500007
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Kinsship Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced t...	OMIM:619297
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist fle...	ORPHA:800
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pete...	OMIM:608013
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Arthrogryposis multiple...	OMIM:601809
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Anterio...	ORPHA:1299
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:241530
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Anteverted nares, Depressed nasa...	ORPHA:254519
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l...	ORPHA:289157
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing p...	OMIM:166220
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Senso...	OMIM:164210
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph...	OMIM:231070
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo...	OMIM:600785
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi...	OMIM:250250
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Monosomy 9Q22.3	Delayed eruption of teeth, Hyperactivity, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, P...	ORPHA:77301
Optic Atrophy 7 With Or Without Auditory Neuropathy	Sensorineural hearing impairment, Pallor	OMIM:612989
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft, Atresia of the external auditory canal, Aplasia of the nose, A...	ORPHA:3186
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short...	ORPHA:2044
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Xylt1-Cdg	Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav...	ORPHA:370930
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Platyspondyly, Scoliosis, Femoral bowing	OMIM:126550
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Leishmaniasis	Abnormal oral mucosa morphology, Anorexia, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity mor...	ORPHA:507
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Anteverted nar...	OMIM:101800
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bulbous...	OMIM:609460
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Oppositional defiant disorder, Hyperactivity, Anteverted nare...	OMIM:252940
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Esophageal Atresia	Respiratory distress, Laryngotracheomalacia, Abnormality of the ear, Pallor, Aspiration, Barrett ...	ORPHA:1199
Degcags Syndrome	Micrognathia, Prominent nose, Oral-pharyngeal dysphagia, High palate, Pallor, Diaphragmatic event...	OMIM:619488
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,...	OMIM:109120
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscl...	ORPHA:2463
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Malabsorption, Enamel hypoplasia, Tympanosclerosis, Atrophic gastritis	OMIM:240300
Dominant Beta-Thalassemia	Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Malar prominence...	ORPHA:231226
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost...	OMIM:616723
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sensorineural hearing impairment, Pallor, Anorexia	ORPHA:49827
Acute Myelomonocytic Leukemia	Dyspnea, Abnormality of the gingiva, Pallor	ORPHA:517
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Hypoplasia of the maxilla, Broad metatarsal, Elbow flex...	OMIM:608328
Harrod Syndrome	Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird...	ORPHA:2115
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Ky...	OMIM:253200
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Optic Atrophy 1	Pallor	OMIM:165500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Neonatal respiratory distress, Diastasis recti, Intestinal malrotation, Micr...	OMIM:265380
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen...	OMIM:308050
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Apnea, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot po...	OMIM:617563
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Dental malocclusion, Pectus carinatum, Abnormal pelvic girdle bone morphol...	ORPHA:3079
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Cervical ribs	ORPHA:66630
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Diamond-Blackfan Anemia	Depressed nasal bridge, Cleft soft palate, Micrognathia, Absent thumb, Cleft lip, Short thumb, Pa...	ORPHA:124
Aspergillosis	Chronic lung disease, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnor...	ORPHA:1163
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Fibrous syn...	ORPHA:1300
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My...	OMIM:300219
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever...	OMIM:227330
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Wide nose, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sen...	ORPHA:217085
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Abnormal repetitive mannerisms, Oppositional defiant disorder, Hyp...	ORPHA:580
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short palm, Brachydactyly, Hypoplasia of the ma...	ORPHA:2588
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Asymmetry ...	OMIM:619124
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hyp...	ORPHA:75508
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:615108
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs...	ORPHA:171430
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Wide nose, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sen...	ORPHA:217093
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear...	ORPHA:2751
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Protruding ear, Short p...	ORPHA:52
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac...	ORPHA:2167
Beta-Thalassemia Major	Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Malar prominence...	ORPHA:231214
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo...	ORPHA:2911
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, High, narrow palate, ...	OMIM:122470
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxia...	OMIM:617088
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal br...	ORPHA:3404
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Clinodactyly, Flexion contracture, Femoral bowing, Anteriorly placed anus, C...	ORPHA:95699
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Sensorineural hearing impairment, Abno...	OMIM:118100
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Prominent nose, H...	OMIM:180849
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossifi...	OMIM:109400
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera...	OMIM:610828
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Preaxial hand polydactyly, Short thumb, A...	ORPHA:1120
Deafness-Lymphedema-Leukemia Syndrome	Vertigo, Sensorineural hearing impairment, Respiratory failure, Pallor, Chronic otitis media	ORPHA:3226
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Early ossification of capital fem...	OMIM:208500
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:304120
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, ...	OMIM:303600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:615109
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly	OMIM:184400
Diamond-Blackfan Anemia 1	11 pairs of ribs, Micrognathia, Cleft upper lip, Short thumb, Absent thumb, Hypoplastic ilia, Dep...	OMIM:105650
Phosphoribosylaminoimidazole Carboxylase Deficiency	Depressed nasal bridge, Anteverted nares, Choanal atresia, Missing ribs, Esophageal atresia, Trac...	OMIM:619859
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Non-Functioning Paraganglioma	Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Pallor	ORPHA:94080
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proc...	OMIM:252500
Waldenström Macroglobulinemia	Epistaxis, Hearing impairment, Anorexia, Malabsorption, Vertigo, Respiratory insufficiency, Pallo...	ORPHA:33226
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Metaphyseal chondrodysplasia...	OMIM:260400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Depressed nasal bridge, Redundant skin, Wide anterior fontan...	OMIM:616482
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Sarcoidosis	Abnormal nasal mucosa morphology, Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Upper airw...	ORPHA:797
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Anteverted nares, Depressed nasal bridge, Camptod...	ORPHA:93473
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy...	ORPHA:3044
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu...	OMIM:208150
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip ...	ORPHA:2003
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Posteriorly rotated ears, Aggressive behavior, Tapered finger, Abnormal r...	OMIM:301066
Distal Deletion 19P	Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C...	ORPHA:96129
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Choanal atresia, Congenital diaphragmatic h...	ORPHA:3380
Plummer-Vinson Syndrome	Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,...	ORPHA:54028
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, High palate, Respiratory insufficiency, Thin ribs	ORPHA:456328
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D...	OMIM:614008
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Wide cranial sutures, Short femur, Anteverted nares, Depressed nasal bridge...	OMIM:618188
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture...	OMIM:259050
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Occipital Horn Syndrome	Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav...	OMIM:304150
Branchiooculofacial Syndrome	Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Depressed nasal bridge, ...	OMIM:113620
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Micrognathia, Pectus excavatum, ...	OMIM:616145
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Pallor	ORPHA:276608
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Short neck, Limited knee fle...	OMIM:258315
Evans Syndrome	Dyspnea, Pallor, Epistaxis, Petechiae	ORPHA:1959
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad long bone diaphyses, Spatulate ribs, Broad nasal tip, Gingival over...	ORPHA:79255
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M...	OMIM:105830
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Hyperinsulinism Due To Ucp2 Deficiency	Polyphagia, Agitation, Pallor	ORPHA:276556
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Scaling skin, Neonatal death, Depres...	OMIM:275210
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Broad ribs, Mi...	OMIM:229850
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ...	ORPHA:373
Dravet Syndrome	Impulsivity, Pallor, Limited knee extension, Obsessive-compulsive trait, Tibial torsion	ORPHA:33069
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Polyphagia, Agitation, Pallor	ORPHA:276575
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Pallor, Conductive...	OMIM:609053
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Simple ea...	OMIM:613610
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Polyphagia, Agitation, Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Polyphagia, Agitation, Pallor	ORPHA:324575
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:158350
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of the hand, Br...	OMIM:277600
Hemoglobin D Disease	Pallor	ORPHA:90039
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Advanced eruption of ...	ORPHA:818
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femo...	OMIM:210710
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte...	ORPHA:3027
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m...	OMIM:305100
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Mixed hearing impairment, Thickened ribs, Depressed nasal bridge, Facial h...	ORPHA:309282
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus...	OMIM:607143
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ...	ORPHA:534
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology	ORPHA:2772
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Isolated Exencephaly	Hypoplasia of the frontal bone, Depressed nasal bridge, Abnormal facial skeleton morphology, Low-...	ORPHA:563612
Charge Syndrome	Abnormal tibia morphology, Hypoplasia of the semicircular canal, Compulsive behaviors, Clinodacty...	ORPHA:138
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Narrow chest, Thoracic hypoplasia,...	OMIM:619479
8P11.2 Deletion Syndrome	Depressed nasal bridge, Micrognathia, External ear malformation, Anosmia, High palate, Supernumer...	ORPHA:251066
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Upper limb...	ORPHA:1435
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Thickened ribs, Recurrent upper respiratory tract infections, Everted lower lip ve...	OMIM:252930
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Thickened ribs, Aggressive behavior, Recurrent upper respiratory tract infections,...	OMIM:252920
Incontinentia Pigmenti	Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Pallor, Supernumerary ribs, Hypo...	OMIM:308300
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs	OMIM:614857
Breath-Holding Spells	Pallor	OMIM:607578
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Sensorineural hearing impairment, Microtia, Hypoplasia of the zygomatic b...	OMIM:618500
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing	OMIM:239000
Congenital Heart Block	Pleural effusion, Pallor, Crackles	ORPHA:60041
Fontaine Progeroid Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Hypoplasia of the abdom...	OMIM:612289
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Generalized amyotro...	OMIM:264090
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough	ORPHA:99931
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, Depressed nas...	OMIM:619127
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology, Impulsivity, Dysphagia	ORPHA:280195
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Hearing impairment	ORPHA:2578
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Sagit...	OMIM:218330
Waardenburg Syndrome, Type 1	Mandibular prognathia, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi...	OMIM:193500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Aplasia/Hypoplasia inv...	ORPHA:1662
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, ...	ORPHA:1101
Gracile Bone Dysplasia	Slender long bone, Thin ribs, Flared metaphysis, Brachydactyly	OMIM:602361
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Underdevelop...	ORPHA:83617
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Anal stenosis, Absence of Stensen duct, Choanal atresia, Selecti...	OMIM:604292
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Thickened ribs, Recurrent upper respiratory tract infections, Hearing impairment	OMIM:252900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,...	ORPHA:169189
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Rhizomeli...	ORPHA:508542
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Facial hypotonia, Anorexia, Aggressive behavior, O...	ORPHA:2131
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Anorexia, Cheilitis, Pallor, Glossitis	ORPHA:90045
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper ...	OMIM:615465
Beta-Thalassemia	Respiratory insufficiency, Pallor, Skin ulcer	ORPHA:848
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Pallor	ORPHA:276621
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Agitation, Pallor, Dysphagia	ORPHA:13
Primary Myelofibrosis	Anorexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Pectus excavatum, Persistence of primary teeth, Abnormality of the dentition, Thick...	ORPHA:2785
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Prominent metopic r...	ORPHA:1272
Beta-Ketothiolase Deficiency	Anorexia, Tachypnea, Agitation, Pallor, Cough, Oral aversion	ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal...	OMIM:261540
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrotation, Microgna...	ORPHA:2166
American Trypanosomiasis	Dyspnea, Aganglionic megacolon, Pallor, Cough	ORPHA:3386
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Generalized Arterial Calcification Of Infancy	Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ...	ORPHA:51608
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Esophageal stenosis, Abnormality of the dentition, Hypoplas...	ORPHA:1775
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Anorexia	OMIM:611590
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Enterocolitis, Abnormal respiratory syste...	ORPHA:90051
Fumarase Deficiency	Necrotizing enterocolitis, Depressed nasal bridge, Anteverted nares, High palate, Pallor	OMIM:606812
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Ankle...	ORPHA:3260
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Pallor	ORPHA:29072
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Agitation, Pallor	ORPHA:263455
Charge Syndrome	Micrognathia, Hand monodactyly, Self-mutilation, Hypoplasia of the ulna, Facial palsy, Cleft uppe...	OMIM:214800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Everted lower lip vermilion, Pallor, Muscular dystrophy, Malar flattening, Short na...	OMIM:253280
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Childhood Absence Epilepsy	Punding, Pallor, Attention deficit hyperactivity disorder, Hyperventilation	ORPHA:64280
Panhypophysitis	Sensorineural hearing impairment, Polydipsia, Pallor	ORPHA:95513
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Redundant skin, Congenital diaphrag...	ORPHA:116
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90037
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90036
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Apnea, Pallor, Anorexia	ORPHA:20
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Letterer-Siwe Disease	Stomatitis, Dyspnea, Pallor	OMIM:246400
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Depressed nasal ridge, Gingival overgrowth	OMIM:230500
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia	ORPHA:93941
Lethal Congenital Contracture Syndrome 5	Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in...	OMIM:615368
Irida Syndrome	Abnormal intestine morphology, Pallor	ORPHA:209981
Fanconi Anemia, Complementation Group D2	Anemic pallor, Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polyda...	OMIM:227646
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent upper and lower respiratory tract infections, Pallor	ORPHA:331206
Imerslund-Gräsbeck Syndrome	Glossitis, Pallor, Angular cheilitis	ORPHA:35858
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Adenohypophysitis	Sensorineural hearing impairment, Pallor	ORPHA:95512
Otosclerosis 10	Otosclerosis	OMIM:615589
Non-Functioning Pituitary Adenoma	Vertigo, Pallor	ORPHA:91349
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Sheehan Syndrome	Vertigo, Dry skin, Pallor, Sensorineural hearing impairment	ORPHA:91355
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Exertional dyspnea	ORPHA:90033
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Pallor, Skin ulcer	ORPHA:231222
Cold Agglutinin Disease	Pallor	ORPHA:56425
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Congenital hip dislocation, Depressed nasal bridge, Dental crowding, Arachnoda...	OMIM:225400
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs...	OMIM:157170
Congenital Dyserythropoietic Anemia Type Iii	Pallor, Gingival bleeding	ORPHA:98870
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Prolactinoma	Vertigo, Pallor	ORPHA:2965
Tetrasomy 9P	Joint dislocation, Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Abno...	ORPHA:3310
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joint subluxati...	OMIM:182250
Fanconi Anemia, Complementation Group C	Anemic pallor, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complete duplicatio...	OMIM:227645
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Anorexia, Malabsorption, Erythema, Steatorrhea, Pallor, Death in childhood	OMIM:557000
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,...	OMIM:118450
Senior-Loken Syndrome 8	Polydactyly, Pallor	OMIM:616307
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete...	OMIM:617397
Fanconi Anemia, Complementation Group E	Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx, H...	OMIM:600901
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Fanconi Anemia, Complementation Group A	Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx, H...	OMIM:227650
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Fused cervical vertebrae, Joint swelling, Flaring of rib cage, Stomatitis, ...	OMIM:612852
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Flexion contracture, Thin ribs	OMIM:614833
Aregenerative Anemia	Dyspnea, Pallor	ORPHA:101096
Hereditary Spherocytosis	Gout, Pallor, Skin ulcer	ORPHA:822
Histiocytoid Cardiomyopathy	Tachypnea, Pallor, Cleft palate, Cough	ORPHA:137675
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Myelofibrosis	Pallor, Purpura	OMIM:254450
Retinitis Pigmentosa 75	Pallor	OMIM:617023
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Pallor	ORPHA:98849
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Intestinal perforation, Dyspnea, Pleural empyema, Pallor, Septic arthritis, Intussusce...	ORPHA:544482
Refractory Anemia With Excess Blasts	Anemic pallor, Exertional dyspnea	ORPHA:86839
Von Hippel-Lindau Disease	Vertigo, Upper limb muscle weakness, Pallor, Endolymphatic sac tumor, Distal lower limb muscle we...	ORPHA:892
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Pituitary Apoplexy	Pallor	ORPHA:95613
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Proximal amyotrophy, Thick vermilion border, P...	ORPHA:653
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Natal tooth, Short femur, Camptodactyly of finger, Irregular sclerotic e...	ORPHA:3455
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Liver Disease, Severe Congenital	Chronic gastritis, Depressed nasal bridge, Pneumonia, Narrow nasal ridge, Micrognathia, Protein-l...	OMIM:619991
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Broad hallux phalanx...	ORPHA:857
Sotos Syndrome	Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Aggressive behavior, Pectus ex...	ORPHA:821
Tsh-Secreting Pituitary Adenoma	Vertigo, Pallor	ORPHA:91347
Elliptocytosis 1	Pallor	OMIM:611804
Coccidioidomycosis	Respiratory distress, Pneumonia, Abnormal long bone morphology, Arthritis, Pleural empyema, Cough...	ORPHA:228123
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Pneumonia, Oral ulcer, Bronchiectasis, Arth...	OMIM:619381
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo...	ORPHA:329971
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Cough, Exertional dy...	OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Congenital diaphragmatic hernia, Death in ...	ORPHA:991
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Death in childhood	OMIM:612301

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gsc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gsc.

No publications found that use IMPC mice or data for Gsc.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Gsc^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gsc^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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