Gene: Slc39a13 MGI:1915677

Registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 39 (metal ion transporter), member 13

Synonyms:

1100001L14Rik, ZIP13

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 Slc39a13 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 Slc39a13 (2 diseases)
Human diseases predicted to be associated with Slc39a13 (1441 diseases)

The table below shows human diseases associated to Slc39a13 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3		Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Flat...	OMIM:612350
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome		Broad femoral neck, Downslanted palpebral fissures, Flexion contracture, Tapered finger, Short fe...	ORPHA:157965

The table below shows human diseases predicted to be associated to Slc39a13 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Genu valgum, Pseudoepiphyses, Irregular vertebral endplates, Tapered finger, ...	OMIM:601668
Metaphyseal Chondrodysplasia, Spahr Type	Hyperlordosis, Genu varum, Progressive leg bowing, Abnormality of the dentition, Hip dysplasia, S...	ORPHA:2501
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Flat...	OMIM:612350
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ...	OMIM:144750
Cranioectodermal Dysplasia	Finger syndactyly, Rhizomelia, Epicanthus, Microdontia, Hypodontia, Taurodontia, Clinodactyly of ...	ORPHA:1515
Pyle Disease	Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti...	OMIM:265900
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short 5th metacarpal, Short middle phalanx of the 5th finger, Short stature, Osteoporosis of vert...	OMIM:156510
Osteolysis Syndrome, Recessive	Knee flexion contracture, Short stature, Elbow flexion contracture, Metacarpal osteolysis, Hypopl...	OMIM:259610
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Arthrit...	ORPHA:61
Craniosynostosis 3	Left unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusion, Hallux valgus, Brachy...	OMIM:615314
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Hip ...	ORPHA:1858
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Keratoglobus, Epicanthus, Joint laxity, Congenital hip dislocation, Sp...	OMIM:229200
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ...	ORPHA:2790
Gnathodiaphyseal Dysplasia	Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteope...	ORPHA:53697
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Deeply set eye, Hallux valgus, Short stature, Synophrys, Kyphoscoliosis	OMIM:615541
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va...	OMIM:608940
Rubinstein-Taybi Syndrome 2	Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, Short first metatars...	OMIM:613684
Mulibrey Nanism	Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Short stature, Hypodontia, T...	OMIM:253250
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High palate, Tapered ...	OMIM:618292
Atkin-Flaitz Syndrome	Downslanted palpebral fissures, Genu valgum, Tapered finger, Kyphosis, Exaggerated median tongue ...	OMIM:300431
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol...	ORPHA:1802
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyp...	ORPHA:3416
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Hypoplasia of the maxilla, Osteolysis, Proptosis, Short distal phalanx of finger, ...	ORPHA:2776
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, Sparse eyebrow, Epicanthus, Joint laxity, Brachydactyly, High, narrow palate	OMIM:619692
Trichodentoosseous Syndrome	Increased bone mineral density, Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Muenke Syndrome	Dental malocclusion, Short middle phalanx of toe, Downslanted palpebral fissures, High palate, Ca...	OMIM:602849
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Epicanthus, Thick lower lip vermilion...	OMIM:234250
Frank-Ter Haar Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Mandibular prognathia, Deeply set eye, K...	ORPHA:137834
Intermediate Osteopetrosis	Increased susceptibility to fractures, Back pain, Dental malocclusion, Osteomyelitis, Recurrent f...	ORPHA:210110
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Long philtrum, Deeply set eye, Abnormality of globe location, Micrognathia, Bifid uv...	ORPHA:576283
Ck Syndrome	Retrognathia, Hyperlordosis, High palate, Kyphosis, Epicanthus, Micrognathia, Abnormal cortical b...	OMIM:300831
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High palate, Short st...	ORPHA:3079
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges...	ORPHA:3152
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Deeply set eye, Kyphosis, Tongue atrophy, Delayed eruption ...	OMIM:141300
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Telecanthus, Persistent pu...	OMIM:257850
14Q11.2 Microdeletion Syndrome	High palate, Long philtrum, Deep philtrum, Epicanthus, Toe syndactyly, Micrognathia, Blepharophim...	ORPHA:261120
Trichorhinophalangeal Syndrome, Type I	Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic...	OMIM:190350
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys, Telecanthus, Abnor...	ORPHA:1327
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Mic...	ORPHA:2471
Clark-Baraitser syndrome	Downslanted palpebral fissures, Genu valgum, Tapered finger, Kyphosis, Exaggerated median tongue ...	OMIM:300602
Maxillonasal Dysplasia, Binder Type	Vertebral clefting, Short distal phalanx of finger, Dental malocclusion, Patchy distortion of ver...	OMIM:155050
Microtriplication 11Q24.1	Genu valgum, Small hand, Short stature, Synophrys, Clinodactyly of the 5th finger, Short philtrum...	ORPHA:289522
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene...	OMIM:618363
Dysostosis, Stanescu Type	Increased bone mineral density, Short neck, Tooth agenesis, Abnormal metaphysis morphology, Abnor...	ORPHA:1798
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Hypotelorism, Congenital h...	OMIM:619719
Warburg Micro Syndrome 1	Deeply set eye, Short stature, Micrognathia, Developmental cataract, Joint hypermobility, Overlap...	OMIM:600118
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase...	ORPHA:3352
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Genu valgum, Decreased corneal thickness, Short stature, Moderate intrauterine growth retardation...	ORPHA:293967
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Upper limb undergrowth, Short foot, Short stature, Abnormal cortical b...	ORPHA:166277
Brachyolmia Type 1, Hobaek Type	Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl...	OMIM:271530
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin...	ORPHA:363417
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Dentinogenesis imperfecta, Recurrent fractures, Pseudoarthrosis, Short stature,...	OMIM:619795
Pycnodysostosis	Increased bone mineral density, Micrognathia, Hypoplastic iliac wing, Increased susceptibility to...	ORPHA:763
Pierpont Syndrome	Short toe, Deeply set eye, Widely spaced teeth, Short finger, Narrow palpebral fissure, Joint lax...	ORPHA:487825
Monosomy 5P	Downslanted palpebral fissures, High palate, Recurrent fractures, Finger syndactyly, Small hand, ...	ORPHA:281
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Deeply set eye, Short femoral neck, Slender long bones with narrow diaphyses, Short ...	OMIM:608154
Filippi Syndrome	Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Proptosis, Intrauterin...	OMIM:272440
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Downslanted palpebral fissures, Short stature, Micrognathia, Diastema, Short...	ORPHA:436245
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Bifid uvula, Short neck, Cleft palate, Thick eyebrow, Telecanthus, M...	ORPHA:3473
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Tapered finger, Epicanthus, Microdontia, Synophrys, Sparse eyelashes, Thick ...	OMIM:619293
Dentin Dysplasia, Type I	Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss...	OMIM:125400
Cornelia De Lange Syndrome 5	Toe syndactyly, Micrognathia, Synophrys, Short neck, Limited elbow extension, Cleft palate, Telec...	OMIM:300882
Pierpont Syndrome	Everted lower lip vermilion, Short neck, Smooth philtrum, Short palm, Telecanthus, Short toe, Pro...	OMIM:602342
Stickler Syndrome Type 1	Long philtrum, Hypoplasia of the maxilla, Cataract, Joint hyperflexibility, Proptosis, Platyspond...	ORPHA:90653
Momo Syndrome	Short sternum, Thick upper lip vermilion, Dental malocclusion, Downslanted palpebral fissures, Ab...	ORPHA:2563
Acrodysostosis 1 With Or Without Hormone Resistance	Short phalanx of finger, Delayed eruption of teeth, Epicanthus, Epiphyseal stippling, Mild postna...	OMIM:101800
Brittle Cornea Syndrome	Increased susceptibility to fractures, Keratoglobus, Hallux valgus, Corneal erosion, Corneal dyst...	ORPHA:90354
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Sacral dimple,...	OMIM:616331
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Acrodysostosis	Delayed eruption of teeth, Epicanthus, Epiphyseal stippling, Abnormal form of the vertebral bodie...	ORPHA:950
48,Xxyy Syndrome	Broad jaw, Upslanted palpebral fissure, Delayed eruption of teeth, Thick lower lip vermilion, Hip...	ORPHA:10
Winchester Syndrome	Kyphosis, Generalized osteoporosis, Broad metacarpals, Corneal opacity, Carpal osteolysis, Gingiv...	OMIM:277950
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Delayed eruption of teeth, Micrognathia, Metacarpal ...	OMIM:259600
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Synophrys, Clinodactyly, Radioulnar syn...	OMIM:605282
Arthrogryposis, Distal, Type 5	Absent phalangeal crease, Congenital finger flexion contractures, Distal arthrogryposis, Keratogl...	OMIM:108145
Larsen-Like Syndrome	Dental malocclusion, Wide anterior fontanel, Short stature, Clinodactyly of the 5th finger, Joint...	OMIM:608545
Chung-Jansen Syndrome	Tapered finger, High palate, Long philtrum, Epicanthus, Deeply set eye, Hip dysplasia, Micrognath...	OMIM:617991
Seckel Syndrome 1	Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra...	OMIM:210600
Harrod Syndrome	Dental malocclusion, High palate, Kyphosis, Abnormal pelvic girdle bone morphology, Cataract, Nar...	ORPHA:2115
Van Maldergem Syndrome 1	Irregular dentition, Short 4th metacarpal, Epicanthus, Micrognathia, Camptodactyly, Tracheomalaci...	OMIM:601390
Rhyns Syndrome	Abnormal long bone morphology, Hypoplastic ilia, Deeply set eye, Ptosis, Osteopenia, Small epiphy...	ORPHA:140976
Aarskog-Scott Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Shor...	ORPHA:915
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Downslanted palpebral fissures, High palate, Abnormal sacral segmentation, Long philtrum, Epicant...	ORPHA:480907
Keratoconus Posticus Circumscriptus	Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Hype...	OMIM:244600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Crowded maxillary incisors, Hallux valgus, Hyperopic astigmatism, Blepharo...	ORPHA:397973
Multicentric Carpotarsal Osteolysis Syndrome	Metatarsal osteolysis, Micrognathia, Metacarpal osteolysis, Hypoplasia of the maxilla, Osteopenia...	OMIM:166300
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Downslanted palpebral fissures, High palate, Deeply set eye, Rhizomelia, Short stature, Micrognat...	OMIM:602471
Wilson-Turner Syndrome	Tapered finger, Small hand, Deeply set eye, Short stature, Micrognathia, Malar prominence, Thick ...	ORPHA:3459
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short stature, Slender long bone, Micrognathia, Abnormal cortical bone morph...	ORPHA:1486
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula...	ORPHA:2635
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Hip ...	OMIM:610758
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Downslanted palpebral fissures, High palate, Pierre-Robin sequence, Deep...	OMIM:613604
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ...	ORPHA:85184
Pde4D Haploinsufficiency Syndrome	Short phalanx of finger, Micrognathia, Caudal interpedicular narrowing, Broad hallux, Postnatal g...	ORPHA:439822
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Chromosome 20Q11-Q12 Deletion Syndrome	Deeply set eye, Camptodactyly, Short philtrum, Adducted thumb, Hypertelorism, Tarsal osteovalgus,...	OMIM:614257
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Narrow palate, Deeply set eye, Short stature, Thick lower lip ver...	ORPHA:457365
Weismann-Netter Syndrome	Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Severe short stature...	OMIM:112350
Geroderma Osteodysplasticum	Camptodactyly, Beaking of vertebral bodies, Increased susceptibility to fractures, Irregular vert...	OMIM:231070
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short toe, Downslanted palpebral fissures, Short 5th metacarpal, High palate, Pierre-Robin sequen...	OMIM:617877
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Downslanted palpebral fissures, High palate, Tapered finger, Deeply set eye, Short stature, Short...	ORPHA:85280
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Short stature, Widely spaced teeth, Cataract, Upslanted palpebral fissure, M...	OMIM:616108
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select...	OMIM:305620
Frank-Ter Haar Syndrome	Short phalanx of finger, Micrognathia, Camptodactyly, Metatarsus adductus, Buphthalmos, Short pal...	OMIM:249420
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ...	OMIM:214150
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Coxa valga, Hypoplastic ilia, Short stature, Vertebral wedging, Internal tibial torsi...	OMIM:616583
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Micrognathia, Delayed o...	ORPHA:93346
Acrootoocular Syndrome	Delayed eruption of teeth, Grayish enamel, Micrognathia, Epicanthus, Cutaneous syndactyly, Short ...	ORPHA:2980
Trisomy 4P	Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Short stature, Blepharophim...	ORPHA:1738
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Tapered finger, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, T...	OMIM:616007
20Q11.2 Microdeletion Syndrome	Deeply set eye, Short philtrum, Camptodactyly, Adducted thumb, Hypertelorism, Brachydactyly, Fing...	ORPHA:444051
Van Maldergem Syndrome 2	Hip subluxation, Irregular dentition, Short 4th metacarpal, Epicanthus, Micrognathia, Tracheomala...	OMIM:615546
Faciocardiomelic Syndrome	Thin bony cortex, Polydactyly, Dental malocclusion, Long philtrum, Wide mouth, Cuboid-shaped vert...	OMIM:612731
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Deeply set eye, Kyphosis, Wide mouth, Synophrys, Short philtrum, Everted l...	ORPHA:2429
Congenital Disorder Of Glycosylation, Type Iy	Deeply set eye, Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Scoliosis	OMIM:300934
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Coxa valga, Short stature, Delayed eruption of t...	ORPHA:2484
Keipert Syndrome	Short stature, Epicanthus, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Tented uppe...	ORPHA:2662
Cdkl5-Deficiency Disorder	Deeply set eye, Hallux valgus, Kyphosis, Deep philtrum, Synophrys, Broad proximal phalanges of th...	ORPHA:505652
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, High palate, Deeply set eye, Toe s...	OMIM:616809
Progressive Hemifacial Atrophy	Abnormal mandible morphology, Deeply set eye, Micrognathia, Ptosis, Heterochromia iridis	ORPHA:1214
Three M Syndrome 2	Hyperlordosis, Dental malocclusion, Short 5th finger, High palate, Long philtrum, Delayed eruptio...	OMIM:612921
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Anterior clefting of...	OMIM:265000
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Epicanthus, Micrognathia, S...	OMIM:102500
Intellectual Disability, Birk-Barel Type	Sacral dimple, Congenital finger flexion contractures, Foot joint contracture, Incisor macrodonti...	ORPHA:166108
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Sclerosis of foo...	ORPHA:564003
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio...	ORPHA:85188
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Micrognathia, Microdontia, Broad hallux, Short neck, Slender...	ORPHA:251028
Cranioectodermal Dysplasia 4	Sagittal craniosynostosis, Short stature, Cutaneous finger syndactyly, Epicanthus, Hip dysplasia,...	OMIM:614378
Hamamy Syndrome	Neck pterygia, Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Sparse...	OMIM:611174
Grant Syndrome	Short stature, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa,...	ORPHA:2097
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Short stature, Posterior wedgi...	ORPHA:50814
Sclerosteosis 1	Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, 2-3 f...	OMIM:269500
Short Syndrome	Dental malocclusion, Megalocornea, Deeply set eye, Rieger anomaly, Birth length less than 3rd per...	OMIM:269880
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short 1st metacarpal, Short middle phalanx of the 5th finger, Hip osteoarthritis, Hip dysplasia, ...	ORPHA:63442
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Toe...	ORPHA:1540
Gapo Syndrome	Sparse eyebrow, Mandibular prognathia, Long philtrum, Short stature, Delayed eruption of teeth, M...	ORPHA:2067
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Narrow palate, Short stature, Epicanthus, Blephar...	OMIM:617883
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Hip dis...	OMIM:203550
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Polydactyly, Deeply set eye, Clinodactyly, Hypertelorism, Narrow mouth, Malar...	OMIM:615984
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	2-3 toe syndactyly, High palate, Deeply set eye, Wide mouth, Short stature, Micrognathia, Synophr...	ORPHA:502434
20P12.3 Microdeletion Syndrome	Downslanted palpebral fissures, Long philtrum, Short stature, Epicanthus, Hypoplasia of the maxil...	ORPHA:261295
Cohen Syndrome	Short metatarsal, Genu valgum, Downslanted palpebral fissures, Tapered finger, Macrodontia of per...	OMIM:216550
Cleidocranial Dysplasia 2	Genu valgum, Coxa valga, Aplastic clavicle, Wide anterior fontanel, Delayed eruption of primary t...	OMIM:620099
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal bone ossification, Coxa vara, Kyphosis, Abnormality of the epiphysis...	ORPHA:2114
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Short toe, Tapered finger, Deeply set eye, Kyphosis, Short st...	OMIM:301900
Marshall Syndrome	Thick upper lip vermilion, Coxa valga, Epicanthus, Micrognathia, Irregular distal femoral epiphys...	OMIM:154780
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi...	ORPHA:750
Alazami Syndrome	Short palpebral fissure, Abnormality of the orbital region, Sparse eyebrow, Deeply set eye, Wide ...	ORPHA:319671
Diastrophic Dysplasia	Genu valgum, Hip contracture, Short long bone, Cervical kyphosis, Short finger, Ulnar deviation o...	OMIM:222600
Eiken Syndrome	Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss...	ORPHA:79106
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Epicanthus, Toe syndactyly, Micrognathia, Taurodo...	ORPHA:2710
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Dental malocclusion, Mandibular prognathia, High palate, Ptosis, Arthrogryposis multiplex congenita	OMIM:608931
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Short first metatarsal, Short 1st metacarpal, Natal t...	OMIM:601957
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
49,Xxxxy Syndrome	Coxa valga, Delayed eruption of teeth, Epicanthus, Taurodontia, Hip dislocation, Short neck, Clef...	ORPHA:96264
Short Stature, Dauber-Argente Type	Short stature, Delayed eruption of teeth, Decreased fibular diameter, Long toe, Osteopenia, Arach...	OMIM:619489
Congenital Disorder Of Glycosylation, Type Iik	Short stature, Joint laxity, Epiphyseal dysplasia, Kyphoscoliosis, Malar flattening, Growth delay...	OMIM:614727
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Micrognathia, Thick eyebrow, Arthrogryposis multiplex congenita, Short palpebral fiss...	OMIM:615834
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Short philtrum, Osteoporosis...	ORPHA:71267
Otodental Dysplasia	Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age...	OMIM:166750
48,Xxxy Syndrome	Upslanted palpebral fissure, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Epican...	ORPHA:96263
Andersen Cardiodysrhythmic Periodic Paralysis	Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Cleft palate,...	OMIM:170390
Trisomy 9P	Sacral dimple, Non-midline cleft lip, Downslanted palpebral fissures, Abnormal pupil morphology, ...	ORPHA:236
Freeman-Sheldon Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Deeply set eye, Long philtrum, Short sta...	ORPHA:2053
Mucopolysaccharidosis Type 4	Hyperlordosis, Genu valgum, Coxa valga, Kyphosis, Wide mouth, Grayish enamel, Short stature, Spin...	ORPHA:582
Desbuquois Dysplasia 1	Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg...	OMIM:251450
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Blepharophimosis, Ulnar deviation of fin...	ORPHA:1529
Short Syndrome	Abnormal pupil morphology, Abnormal mandible morphology, Deeply set eye, Megalocornea, Abnormalit...	ORPHA:3163
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Clinodactyly of the 5th fing...	ORPHA:1390
Odontochondrodysplasia 1	Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Dentinogenesis imperfecta,...	OMIM:184260
Maxillonasal Dysplasia	Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi...	ORPHA:1248
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplastic frontal sinuses, Epicanthus, Clinodactyly, Camptodacty...	OMIM:136760
Intellectual Developmental Disorder, X-Linked 108	Downslanted palpebral fissures, Deeply set eye, Long philtrum, Clinodactyly of the 5th finger, Th...	OMIM:301024
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, Wide anterior fontanel, High palate, ...	OMIM:269300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Short stature, Micrognathia...	ORPHA:48431
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Kyphosis, Epicanthus, ...	ORPHA:3409
Liang-Wang Syndrome	Downslanted palpebral fissures, Megalocornea, Macrodontia of permanent maxillary central incisor,...	OMIM:618729
Whistling Face Syndrome, Recessive Form	Epicanthus, Micrognathia, Elbow flexion contracture, Camptodactyly, Short neck, Telecanthus, Shor...	OMIM:277720
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Chromosome Xq13 Duplication Syndrome	Short palpebral fissure, Mandibular prognathia, Medial flaring of the eyebrow, Sparse lateral eye...	OMIM:301069
Cerebellofaciodental Syndrome	Dental malocclusion, Genu valgum, Sparse eyebrow, Tapered finger, Macrodontia of permanent maxill...	OMIM:616202
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial head, Telecanthus, Genu valgu...	OMIM:182212
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Coxa valga, Short stature, Abnormally prominent line of Schwalbe, Hip dislocation...	OMIM:109120
Atelosteogenesis, Type Iii	Horizontal sacrum, Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Cervical kypho...	OMIM:108721
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Incisor macrodontia, Long philtrum, Short stature, Epicanthus, Long eyelashes, Hyp...	OMIM:615502
Rhizomelic Chondrodysplasia Punctata, Type 1	Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilaginous skel...	OMIM:215100
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Deeply set eye, Wide mouth, Epicanthus, Hyperopic astigmatism, Micrognathia, Short p...	ORPHA:363686
Harel-Yoon Syndrome	Mandibular prognathia, Deeply set eye, Hip dysplasia, Micrognathia, Developmental cataract, Scoli...	OMIM:617183
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Short stature, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis involving...	ORPHA:88630
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Downslanted palpebral fissures, Megalocornea, Developmental glaucoma, D...	ORPHA:2409
Hypophosphatasia, Childhood	Short stature, Premature loss of primary teeth, Bowing of the legs, Proptosis, Carious teeth, Cra...	OMIM:241510
Dental Anomalies And Short Stature	Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd...	OMIM:601216
Sanjad-Sakati Syndrome	Deeply set eye, Small hand, Long philtrum, Abnormality of the dentition, Short stature, Micrognat...	ORPHA:2323
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta	OMIM:104530
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Diastrophic Dysplasia	Camptodactyly of finger, Increased bone mineral density, Micrognathia, Hypoplastic cervical verte...	ORPHA:628
Momo Syndrome	Short sternum, Dental malocclusion, Downslanted palpebral fissures, High palate, Long philtrum, D...	OMIM:157980
Alazami Syndrome	Short palpebral fissure, Deeply set eye, Wide mouth, Widely spaced teeth, Short philtrum, Narrow ...	OMIM:615071
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Achilles tendon contracture, Joi...	OMIM:617258
Gorham-Stout Disease	Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormality of the cervical spine, Ab...	ORPHA:73
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Synophrys, Taurodontia, Cleft palate, Abnormal form of the vertebra...	ORPHA:819
Parastremmatic Dwarfism	Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o...	OMIM:168400
Coffin-Lowry Syndrome	Tapered finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Pseudoepiphys...	ORPHA:192
Carpenter Syndrome 1	Coxa valga, Epicanthus, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsu...	OMIM:201000
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Deeply set eye, Micrognathia, Developmental cataract, Kyphoscoliosis, Ca...	OMIM:610756
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Deeply set eye, Multiple joint contractures, Blepharophimosis, Micrognat...	ORPHA:2570
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mohr Syndrome	Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,...	OMIM:252100
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Increased susceptibility to fractures, Epiphyseal streaking, Dentinogenesis imperfecta, Clinodact...	OMIM:604922
Schwartz-Jampel Syndrome	Metatarsus valgus, Wrist flexion contracture, Blepharospasm, Coxa valga, Increased bone mineral d...	ORPHA:800
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Downslanted palpebral fissures, Deeply set eye, Synophrys, Hypertelorism, Upslanted...	OMIM:615979
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Preaxial hand polydactyly, High palate, Wide anterior fontanel, Kyphosis, Ab...	ORPHA:3098
Richieri-Costa/Guion-Almeida Syndrome	Downslanted palpebral fissures, Cleft upper lip, Mandibular prognathia, Deeply set eye, Short sta...	OMIM:268850
Spondyloepiphyseal Dysplasia Congenita	Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle...	ORPHA:94068
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S...	OMIM:118651
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Downslanted palpebral fissures, Short stature, High, narrow palate, Hypermobility of interphalang...	ORPHA:3433
Mucolipidosis Type Iii	Hyperlordosis, Short stature, Large iliac wing, Hypoplastic inferior ilia, Craniofacial hyperosto...	ORPHA:577
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Downslanted palpebral fissures, Long philtrum, Kyphosis, Micrognath...	OMIM:615761
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Downslanted palpebral fissures, High palate, Deeply set eye, Short stature, Epicant...	OMIM:618342
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Upslanted palpebral fissure, Rhizomelia, Short stature, Fi...	ORPHA:166016
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Tapered finger, Small hand, Deeply set eye, Hip dysplasia, Clinodactyly of...	OMIM:618672
Arthrogryposis, Distal, Type 2A	Wrist flexion contracture, Epicanthus, Elbow flexion contracture, Camptodactyly, Hip dislocation,...	OMIM:193700
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Intervertebral space narrowing, Genu valgum, Capitate-hamate fusion, Short metacarpal,...	OMIM:614078
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Denti...	OMIM:259420
Nance-Horan Syndrome	Short phalanx of finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Posterior ...	OMIM:302350
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, High palate, Deeply set eye, Short stature, Clinodactyly...	ORPHA:85279
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Micrognathia, Synophrys, Slender finger, Thick eyebrow, Genu valgum, Hypertelor...	OMIM:618443
Disorder Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Deeply set eye, Kyphosis, Synophrys, Short philtrum, Spina bifida occulta, Downturne...	ORPHA:2983
Metatropic Dysplasia	Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportiona...	OMIM:156530
Developmental And Epileptic Encephalopathy 66	Downslanted palpebral fissures, Macrodontia of permanent maxillary central incisor, Wide mouth, W...	OMIM:618067
2q37 monosomy	Thin upper lip vermilion, Deeply set eye, Brachydactyly	DECIPHER:44
Nager Syndrome	Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o...	ORPHA:245
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Short stature, Coronal craniosynostosis, Oligodontia, Abnormal metaca...	ORPHA:2095
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e...	ORPHA:93359
Weill-Marchesani Syndrome 1	Thin bony cortex, Broad phalanges of the hand, Tooth malposition, Narrow palate, Short stature, A...	OMIM:277600
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis	ORPHA:1423
Lessel-Kreienkamp Syndrome	Dental malocclusion, Deeply set eye, Epicanthus, Clinodactyly of the 5th finger, Thin upper lip v...	OMIM:619149
Trichorhinophalangeal Syndrome, Type Iii	Short phalanx of finger, Sparse lateral eyebrow, Avascular necrosis of the capital femoral epiphy...	OMIM:190351
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Sparse eyebrow, Deeply set eye, Wide mouth, Epicanthus, Thick lower lip vermilion, Ptosis, Osteop...	OMIM:617268
Hypochondroplasia	Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta...	OMIM:146000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Ectopia pupillae, Unilateral narrow palpeb...	OMIM:618727
Mucopolysaccharidosis, Type Iva	Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S...	OMIM:253000
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, Multiple joint contractures, Short stature, Selective tooth agenesis, Microg...	ORPHA:2959
Potocki-Lupski Syndrome	Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High palate, Wide mou...	OMIM:610883
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Increased susceptibility to fractures, Hallux valgus, Kyphosis, Joint laxity, Premature osteoarth...	OMIM:130060
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos...	OMIM:259440
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Metaphyseal Dysplasia Without Hypotrichosis	Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse...	OMIM:250460
Chst3-Related Skeletal Dysplasia	Sparse eyebrow, Intervertebral space narrowing, Flexion contracture, Genu valgum, Long philtrum, ...	ORPHA:263463
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Horizontal eyebrow, Pierre-Robin sequence, Everted upper lip vermilion, Wide mouth, Deep philtrum...	OMIM:618381
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d...	ORPHA:2972
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Hyperextensibility of...	OMIM:610967
Xq27.3Q28 Duplication Syndrome	Deeply set eye, Small hand, Short stature, Thin vermilion border, Short foot, Intrauterine growth...	ORPHA:261483
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Sparse eyebrow, Finger syndactyly, Long philtrum, Blepharophimosis, Subm...	ORPHA:178303
Cole-Carpenter Syndrome	Crumpled long bones, Downslanted palpebral fissures, Recurrent fractures, Kyphosis, Delayed erupt...	ORPHA:2050
Kabuki Syndrome 2	Short 5th finger, Epicanthus, Micrognathia, Hip dislocation, Cleft palate, Eversion of lateral th...	OMIM:300867
Gand Syndrome	Deeply set eye, Wide mouth, Blepharophimosis, Short philtrum, Narrow palpebral fissure, Thin uppe...	OMIM:615074
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bon...	OMIM:607634
Robinow Syndrome, Autosomal Dominant 3	Short phalanx of finger, Bifid tongue, Epicanthus, Micrognathia, Camptodactyly, Short neck, Cleft...	OMIM:616894
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Micrognathia, Osteolysis, Rib osteolysis, Mandibular osteolysis, Progressive...	OMIM:614008
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Abnormal sacrum morphology, Hypoplasia of the maxilla, Ptosis, Ab...	ORPHA:93262
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis...	ORPHA:970
Pfeiffer Syndrome	Downslanted palpebral fissures, Short middle phalanx of toe, Mandibular prognathia, High palate, ...	OMIM:101600
Familial Expansile Osteolysis	Thin bony cortex, Fragile teeth, Osteolysis, Premature loss of teeth, Pathologic fracture, Bowing...	OMIM:174810
Cutis Laxa, Autosomal Recessive, Type Iib	Downslanted palpebral fissures, High palate, Long philtrum, Deeply set eye, Joint hypermobility, ...	OMIM:612940
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Notched primary central incisor, Short stature, Brachydactyly	OMIM:620062
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	2-3 toe syndactyly, Epicanthus, Synophrys, Smooth philtrum, Cleft palate, Thick eyebrow, Ptosis, ...	OMIM:620098
Oliver Syndrome	Camptodactyly of finger, Knee flexion contracture, Short toe, Dental malocclusion, Mandibular pro...	ORPHA:2920
Pettigrew Syndrome	Flexion contracture, Mandibular prognathia, Deeply set eye, Wide mouth, Scoliosis, Thick vermilio...	OMIM:304340
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short phalanx of finger, Retrognathia, Deeply set eye, Long philtrum, Small hand, Short stature, ...	OMIM:300845
Proteus Syndrome	Thin bony cortex, Downslanted palpebral fissures, Spinal canal stenosis, Limbal dermoid, Facial h...	OMIM:176920
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ...	OMIM:253010
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the long bones, Cortica...	ORPHA:93324
Smith-Mccort Dysplasia 1	Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ...	OMIM:607326
Nasopalpebral Lipoma-Coloboma Syndrome	Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Clinodacty...	OMIM:167730
Cri-Du-Chat Syndrome	Downslanted palpebral fissures, High palate, Short metacarpal, Epicanthus, Thick lower lip vermil...	OMIM:123450
Alagille Syndrome	Abnormal pupil morphology, Downslanted palpebral fissures, Deeply set eye, Butterfly vertebral ar...	ORPHA:52
Lujan-Fryns Syndrome	Camptodactyly of finger, Arachnodactyly, High palate, Micrognathia, Short philtrum, Hypoplasia of...	ORPHA:776
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Epicanthus, Increased bone mineral density, Micrognathia, Short neck, Ovoid vertebral...	ORPHA:163649
Atkin-Flaitz Syndrome	Short stature, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip v...	ORPHA:1193
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Deeply set eye, Hip dysplasia, Micrognathia, Delayed puberty, Cataract, Sc...	ORPHA:496790
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Nar...	OMIM:602483
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,...	OMIM:618728
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Downslanted palpebral fissures, High palate, Recurrent fractures, Kyph...	OMIM:616294
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Kyphoscoliosis, Catar...	OMIM:136300
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, Downslanted palpebral fissures, High palate, Kyphosis, Hip dysplasia, Micrognathia,...	OMIM:611890
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Widely spaced teeth, Epicanthus, Taurodontia, Joint laxity, Astig...	OMIM:618205
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Rhizomelia, Vertebral...	OMIM:301014
Cohen Syndrome	Tapered finger, Micrognathia, Iris coloboma, Tooth agenesis, Abnormal eyelash morphology, Thick e...	ORPHA:193
Cornelia De Lange Syndrome 2	Micrognathia, Synophrys, Short neck, Smooth philtrum, Thick eyebrow, Postnatal growth retardation...	OMIM:300590
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm...	ORPHA:93308
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split han...	OMIM:246560
Acromicric Dysplasia	Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln...	OMIM:102370
Pycnodysostosis	Spondylolysis, Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Short stature...	OMIM:265800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Short stature, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofaci...	OMIM:122860
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn...	OMIM:601559
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Downslanted palpebral fissures, Tapered finger, Kyphosis, Short stature, Oligodontia, Anodontia, ...	ORPHA:276630
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph...	OMIM:277440
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,...	ORPHA:174
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Tracheomalacia, Everted lower lip vermilion, Iris colobom...	OMIM:234100
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ...	ORPHA:79345
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, High palate, Deep philtrum, Micrognathia, ...	ORPHA:329178
Megalocornea-Intellectual Disability Syndrome	Metatarsus valgus, Tapered finger, Epicanthus, Micrognathia, Everted lower lip vermilion, Iridodo...	ORPHA:2479
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, S-shaped palpebral fissures, Tapered finger, Long ph...	ORPHA:444072
12Q14 Microdeletion Syndrome	Deeply set eye, Short stature, Micrognathia, Hypodontia, Synophrys, Clinodactyly of the 5th finge...	ORPHA:94063
Brachydactyly, Type B1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint cont...	OMIM:113000
Wieacker-Wolff Syndrome, Female-Restricted	Flexion contracture, Hip contracture, Long philtrum, Kyphosis, Deeply set eye, Short stature, Ach...	OMIM:301041
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Hyperextensibility of the finger joints, Delayed eruption of teeth, Widely spaced teeth...	OMIM:619797
Kury-Isidor Syndrome	Sacral dimple, Downslanted palpebral fissures, High palate, Finger syndactyly, Long philtrum, Wid...	OMIM:619762
Basilicata-Akhtar Syndrome	Retrognathia, Downslanted palpebral fissures, Deeply set eye, Short foot, Epicanthus, Camptodacty...	OMIM:301032
Periventricular Nodular Heterotopia 7	Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Deeply s...	OMIM:617201
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Micrognathia, Ptosis, Abnormal palate morphology, Severe...	ORPHA:2617
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Flexion contracture of toe, Abno...	OMIM:255800
20P13 Microdeletion Syndrome	Polydactyly, Downslanted palpebral fissures, Deeply set eye, Finger syndactyly, Wide anterior fon...	ORPHA:313781
Weismann-Netter Syndrome	Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b...	ORPHA:3344
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Short palm, Recurrent fractures, Hypertelorism, Proptosi...	OMIM:601812
Mental Retardation Syndrome, Belgian Type	Mandibular prognathia, Deeply set eye	OMIM:249599
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Fetal Akinesia Deformation Sequence 4	Retrognathia, High palate, Kyphosis, Micrognathia, Camptodactyly, Short neck, Arthrogryposis mult...	OMIM:618393
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short palpebral fissure, Kyphosis, Joint contracture of the hand, Epicanthus, Micro...	ORPHA:352490
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Mandibular prognathia, Deeply set eye, Short femoral neck, Short metacarpal, ...	OMIM:614813
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Triphalangeal thumb, High palate, Wide anterior fontanel, Deeply set eye, Short stat...	OMIM:201170
Aarskog-Scott Syndrome	Short 5th finger, Short neck, Radial deviation of finger, Curved linear dimple below the lower li...	OMIM:305400
Acromesomelic Dysplasia, Maroteaux Type	Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie...	ORPHA:40
Oculodentodigital Dysplasia	Selective tooth agenesis, Epicanthus, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Sh...	OMIM:164200
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Dysosteosclerosis	Irregular vertebral endplates, Recurrent fractures, Short stature, Delayed eruption of teeth, Inc...	ORPHA:1782
Cleidocranial Dysplasia	Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ...	ORPHA:1452
Albers-Schönberg Osteopetrosis	Genu valgum, Osteomyelitis, Recurrent fractures, Short stature, Arthritis, Abnormal metacarpal mo...	ORPHA:53
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	2-3 toe syndactyly, Epicanthus, Metatarsus adductus, Everted lower lip vermilion, Blue irides, Lu...	ORPHA:3041
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central...	ORPHA:364028
Myhre Syndrome	Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnormal metaphysis morphology, Cleft pal...	ORPHA:2588
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thick upper lip vermilion, Dental malocclusion, Retrognathia, Deeply set eye, Epicanthus, Velopha...	ORPHA:363444
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Clinodactyly of the 5th finger, Abn...	ORPHA:2399
Apert Syndrome	Humeroradial synostosis, Delayed eruption of teeth, Bifid uvula, Postaxial hand polydactyly, Clef...	OMIM:101200
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short phalanx of finger, Thick upper lip vermilion, Flexion contracture, Rhizo-meso-acromelic lim...	OMIM:611717
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Metatarsus valgus, Upslanted palpebral fissure, Mandibular prognathia, Aplasia/Hypoplasia of the ...	ORPHA:3082
Zimmermann-Laband Syndrome 3	Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2...	OMIM:618658
Congenital Myopathy 17	Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, Tapered finger, High palate, L...	OMIM:618975
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Long eyelashes, ...	OMIM:617952
Takenouchi-Kosaki Syndrome	Tapered finger, Synophrys, Camptodactyly, Overlapping toe, Smooth philtrum, Eversion of lateral t...	OMIM:616737
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Ossifying fibroma of the jaw, Epicanthus, Flattened femoral head, Narrow pelvis bone, Fibular met...	ORPHA:457395
Osteogenesis Imperfecta, Type Viii	Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures...	OMIM:610915
Cousin Syndrome	Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia...	OMIM:260660
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Kyphosis, Short stature, Delayed ossification of carpal bones, Cataract, Brac...	OMIM:618392
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi...	OMIM:613849
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Mandibular prognathia, Aplastic clavicle, Recurrent fractu...	ORPHA:2769
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Epicanthus, Micrognathia, Bifid uvula, Camptodactyly, Spina bifida oc...	OMIM:300373
Osteomesopyknosis	Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic...	ORPHA:2777
Dentin Dysplasia	Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Achondrogenesis Type 2	Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Pierre-Robin sequence, Short lon...	ORPHA:93296
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	High palate, Deeply set eye, Wide mouth, Epicanthus, Slender long bone, Joint hypermobility, Thin...	OMIM:618590
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Obtuse angle of mandi...	ORPHA:2741
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	2-3 toe syndactyly, Mandibular prognathia, Recurrent fractures, Hypertelorism, Osteopenia, Joint ...	ORPHA:2324
Martsolf Syndrome 1	Short phalanx of finger, Finger joint hypermobility, Epicanthus, Micrognathia, Metatarsus adductu...	OMIM:212720
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, High palate, Limited elbow movement, Generalized joint laxity, Deeply set eye, Limi...	ORPHA:319171
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Epicanthus, Mild postnatal growth retardation, Camptodactyly, Spina bi...	OMIM:235510
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Sparse eyebrow, Upslanted palpebral fissure, Tapered finger, High palate, Deeply set eye, Epicant...	OMIM:620070
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand...	ORPHA:93314
Stickler Syndrome	Epicanthus, Micrognathia, Hip dislocation, Ectopia lentis, Tooth agenesis, Cleft palate, Glossopt...	ORPHA:828
Otopalatodigital Syndrome Type 1	Downslanted palpebral fissures, Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Inc...	ORPHA:90650
Weill-Marchesani Syndrome 2	Thin bony cortex, Elbow flexion contracture, Ectopia lentis, Proportionate short stature, Iridodo...	OMIM:608328
Anauxetic Dysplasia 1	Microdontia, Elbow flexion contracture, Atlantoaxial dislocation, Short neck, Limited elbow exten...	OMIM:607095
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Short stature, Cataract, Short ne...	OMIM:612463
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Short stature, Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis	OMIM:259730
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Lens luxat...	OMIM:224400
Calvarial Doughnut Lesions With Bone Fragility	Recurrent fractures, Femoral bowing, Severe short stature, Osteopenia, Scoliosis, Platyspondyly, ...	OMIM:126550
Costello Syndrome	Narrow palate, Short stature, Epicanthus, Thick lower lip vermilion, Ulnar deviation of finger, M...	ORPHA:3071
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Malar prominence,...	ORPHA:2522
Dislocation Of The Hip-Dysmorphism Syndrome	Epicanthus, Prominence of the premaxilla, Congenital hip dislocation, Abnormal palate morphology,...	ORPHA:2412
Saethre-Chotzen Syndrome	Blepharospasm, Hallux valgus, Epicanthus, Cleft palate, Abnormal form of the vertebral bodies, Pr...	ORPHA:794
Spondyloepimetaphyseal Dysplasia, X-Linked	Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi...	OMIM:300106
Forsythe-Wakeling Syndrome	Growth delay, Deeply set eye, Osteoporosis, Short stature	OMIM:613606
Chondrodysplasia-Disorder Of Sex Development Syndrome	Short phalanx of finger, Deeply set eye, Short metacarpal, Blepharophimosis, Hypoplasia of the ir...	ORPHA:1422
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Pseudoachondroplasia	Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio...	OMIM:177170
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow maxilla, Upslanted palpebral fissure, Medial flaring of the eyebrow, High palate, Deeply s...	OMIM:617602
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Fountain Syndrome	Epicanthus, Synophrys, Spina bifida occulta, Everted lower lip vermilion, Thick eyebrow, Gingival...	ORPHA:3219
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Deeply set eye, Microretrognathia, Upslanted palpebral fissure, Abno...	ORPHA:276422
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Sparse eyebrow, Absent lacrimal punctum, Short...	OMIM:129400
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Flexion contracture, Wide anterior fontanel, Short long bone, Epicanthus, Micrognat...	OMIM:263210
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Vertebral fusion, Downslanted palpebral fissures, Narrow palate, High palate...	OMIM:227330
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Flexion contracture, Tapered finger, Epicanthus, Toe syndactyly, Micrognathia, Everted lower lip ...	OMIM:619720
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Downslanted palpebral fissures, Joint contracture of the hand, Micrognathia,...	OMIM:608257
3Mc Syndrome 2	Hip dislocation, Cleft palate, Postnatal growth retardation, Blepharophimosis, Caudal appendage, ...	OMIM:265050
Christianson Syndrome	Mandibular prognathia, Deeply set eye, Adducted thumb, Joint hyperflexibility, Thick eyebrow, Art...	ORPHA:85278
Chromosome 2Q37 Deletion Syndrome	Short phalanx of finger, Short toe, Short metatarsal, Deeply set eye, Short metacarpal, Short sta...	OMIM:600430
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Synophrys, Radial deviation of finger, Smooth philtrum, Thick eyebrow, Narrow mouth...	OMIM:270450
Radio-Tartaglia Syndrome	Tapered finger, Epicanthus, Micrognathia, Synophrys, Thick eyebrow, Hypertelorism, Upslanted palp...	OMIM:619312
Trisomy 13	Deeply set eye, Long philtrum, Kyphosis, Aplasia/Hypoplasia of the iris, Hypotelorism, Abnormal p...	ORPHA:3378
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short phalanx of finger, Flexion contracture, Micrognathia, Premature osteoarthritis, Cleft palat...	OMIM:215150
Dental Ankylosis	Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Dental malocclusion, Wide mouth, Epicanthus, Thick lower lip vermilion, Micrognathia, Blepharophi...	ORPHA:85321
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Retrognathia, Enamel hypoplasia, High palate, Deeply set eye	OMIM:617915
6P22 Microdeletion Syndrome	Deeply set eye, Finger syndactyly, Epicanthus, Clinodactyly, Abnormal palate morphology, Short ne...	ORPHA:251046
Localized Scleroderma	Dental malocclusion, Flexion contracture, Deeply set eye, Arthritis, Abnormal upper lip morpholog...	ORPHA:90289
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Dental malocclusion, Upslanted palpebral fissure, Deeply set eye, Microg...	OMIM:613680
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Dental malocclusion, Lacrimal duct stenosis, Conjunctivitis, Tapered fi...	OMIM:615560
Chromosome 22Q11.2 Deletion Syndrome, Distal	Deeply set eye, Short stature, Thin upper lip vermilion, Smooth philtrum, Malar flattening, Highl...	OMIM:611867
Marshall Syndrome	Thick upper lip vermilion, Sparse eyebrow, Genu valgum, High palate, Long philtrum, Hypoplastic f...	ORPHA:560
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Flexion contracture, Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Short n...	OMIM:613330
Ritscher-Schinzel Syndrome 3	Downslanted palpebral fissures, Short first metatarsal, Short 1st metacarpal, Wide anterior fonta...	OMIM:619135
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup...	ORPHA:166272
Crouzon Syndrome	Conjunctivitis, Narrow palate, Abnormal sacrum morphology, Hypoplasia of the maxilla, Ptosis, Hyp...	ORPHA:207
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Long philtrum, Dacryocystitis, Deeply set eye, Hypertelorism, ...	ORPHA:464288
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Flexion contracture, Tapered finger, High palate, Hypoplasia of the maxilla, ...	OMIM:218000
Luo-Schoch-Yamamoto Syndrome	Deeply set eye, Small hand, Wide mouth, Short philtrum, Long eyelashes, Almond-shaped palpebral f...	OMIM:619460
Cardiofaciocutaneous Syndrome 1	Epicanthus, Micrognathia, Short neck, Hyperextensibility of the finger joints, Ptosis, Hypertelor...	OMIM:115150
Congenital Muscular Dystrophy, Ullrich Type	Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased ...	ORPHA:75840
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Short upper lip, Retrognathia, Deeply set eye, Micrognathia, Gingival overgrowth, Short philtrum,...	OMIM:616875
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Long philtrum, Absent lacrimal punctum, Absent eyelashes, Clinodactyly of the 5th finger, Microre...	ORPHA:228396
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Deeply set eye, Short foot, Small hand, Long philtrum, Micrognathia, Bifid uvula, Patchy osteoscl...	OMIM:241410
Noonan Syndrome 4	Dental malocclusion, Downslanted palpebral fissures, Sparse eyebrow, Wide mouth, Epicanthus, Bila...	OMIM:610733
Dentinogenesis Imperfecta	Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil...	ORPHA:49042
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal nasolacrimal system morphology, Abnormal eyebrow morphology, Ab...	ORPHA:3220
Phelan-Mcdermid Syndrome	Sacral dimple, 2-3 toe syndactyly, Dental malocclusion, High palate, Long philtrum, Deeply set ey...	OMIM:606232
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Downslanted palpebral fissures, Tapered finger, Small hand, Long philtrum, Deeply set eye, Short ...	OMIM:618089
Hypomelanosis Of Ito	Kyphosis, Epicanthus, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Hype...	OMIM:300337
Au-Kline Syndrome	Lagophthalmos, Coxa valga, Bifid tongue, Bifid uvula, Overlapping toe, Cleft palate, Sacral dimpl...	OMIM:616580
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	2-3 toe syndactyly, Deeply set eye, Wide mouth, Synophrys, Almond-shaped palpebral fissure, Broad...	OMIM:300860
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Taurodontism	Taurodontia	OMIM:272700
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl...	OMIM:600920
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph...	OMIM:264700
Chromosome 17Q12 Duplication Syndrome	Downslanted palpebral fissures, Deeply set eye, Cleft soft palate, Micrognathia, Broad thumb, Pet...	OMIM:614526
Caffey Disease	Cortical thickening of long bone diaphyses, Cortical irregularity, Scoliosis, Proptosis, Calvaria...	ORPHA:1310
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Dental malocclusion, Downslanted palpebral fissures, Phakodonesis, High palate, Bif...	OMIM:601552
Frontorhiny	Camptodactyly of finger, Bifid tongue, Hypoplastic frontal sinuses, Epicanthus, Hypoplasia of the...	ORPHA:391474
Codas Syndrome	Short metacarpal, Delayed eruption of teeth, Epicanthus, Short stature, Abnormality of dental mor...	ORPHA:1458
Smith-Magenis Syndrome	Mandibular prognathia, Deeply set eye, Everted upper lip vermilion, Abnormality of the dentition,...	OMIM:182290
Elsahy-Waters Syndrome	Delayed eruption of teeth, Synophrys, Bifid uvula, Thick eyebrow, Agenesis of incisor, Megalocorn...	OMIM:211380
Brachyolmia Type 1, Toledo Type	Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro...	OMIM:271630
Perlman Syndrome	Retrognathia, Deeply set eye, Epicanthus, Micrognathia, Broad alveolar ridges, Abnormal upper lip...	ORPHA:2849
Kniest Dysplasia	Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Abnormal cartilage collagen...	ORPHA:485
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Short stature, Microdontia, Abnormal metacarpal mor...	ORPHA:1307
O'Donnell-Luria-Rodan Syndrome	Deeply set eye, Downslanted palpebral fissures, Tapered finger, Kyphosis	OMIM:618512
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Deeply set eye, Downslanted palpebral fissures, Short philtrum	OMIM:300471
Intellectual Developmental Disorder, Autosomal Dominant 7	Deeply set eye, Hallux valgus, Birth length less than 3rd percentile, Short stature, Thick lower ...	OMIM:614104
Osteogenesis Imperfecta, Type Xi	Increased susceptibility to fractures, Biconcave vertebral bodies, Protrusio acetabuli, Dentinoge...	OMIM:610968
Hall-Riggs Syndrome	Wide mouth, Delayed eruption of teeth, Epicanthus, Thick vermilion border, Short stature, Brachyd...	ORPHA:2107
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Retrognathia, Genu valgum, Arachnodactyly, Downslanted palpebral fissure...	ORPHA:2462
Nablus Mask-Like Facial Syndrome	Tapered finger, Camptodactyly, Everted lower lip vermilion, Short hallux, Short neck, Smooth phil...	OMIM:608156
Schimke Immuno-Osseous Dysplasia	Short stature, Microdontia, Hypodontia, Disproportionate short-trunk short stature, Hypoplastic p...	ORPHA:1830
Gapo Syndrome	Sparse eyebrow, Eruption failure, Megalocornea, Wide anterior fontanel, Long philtrum, Epicanthus...	OMIM:230740
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Downslanted palpebral fissures, Limited elbow movement, Kyphosis, Joint contracture...	OMIM:300280
Emanuel Syndrome	Sacral dimple, Broad jaw, High palate, Long philtrum, Kyphosis, Delayed eruption of primary teeth...	OMIM:609029
Desbuquois Dysplasia 2	Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Epicanthus, Synophrys...	OMIM:615777
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Abnormal eyelid morphology, Finger syndactyly, Euryblepharon, Hypertelorism, Cario...	ORPHA:1997
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Broad alveolar ridges, Patchy sclerosis of finger phalanx, Facial hyperost...	OMIM:218400
Osteogenesis Imperfecta	Flexion contracture, Delayed eruption of teeth, Micrognathia, Dislocated radial head, Abnormal me...	ORPHA:666
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Flexion contracture, High palate, Slender toe, Arachnodactyly	OMIM:310400
Dyggve-Melchior-Clausen Disease	Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bod...	OMIM:223800
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth ph...	OMIM:618737
Ck Syndrome	High palate, Epicanthus, Dental crowding, Microretrognathia, Joint hypermobility, Almond-shaped p...	ORPHA:251383
Nail-Patella Syndrome	Absent distal interphalangeal creases, Limited elbow extension, Cleft palate, Microphakia, Dispro...	OMIM:161200
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Micrognathia, Irregular acetabular roof, Abnormal metaphysis morphology, Dispr...	ORPHA:93316
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib...	OMIM:313420
Chopra-Amiel-Gordon Syndrome	Pierre-Robin sequence, Deeply set eye, Short stature, Short philtrum, Joint hypermobility, Almond...	OMIM:619504
Osteogenesis Imperfecta, Type X	Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, S...	OMIM:613848
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Short long bone, Hypodontia, Oli...	OMIM:619184
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Micrognathia, Severe short stature, Hypertelorism, Multip...	ORPHA:2645
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ...	OMIM:600785
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Del...	OMIM:619718
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Dislocated radial head, Reduced bone mineral density, Dentinogene...	OMIM:614856
Ruvalcaba Syndrome	Short phalanx of finger, Downslanted palpebral fissures, Short foot, Kyphosis, Short metacarpal, ...	OMIM:180870
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Downslanted palpebral fissures, Hyperextensibility at wrists, Flexion contracture, High palate, L...	ORPHA:481152
8P23.1 Duplication Syndrome	Deeply set eye, Long philtrum, Toe syndactyly, Hypertelorism, Highly arched eyebrow, Thick vermil...	ORPHA:251076
Borjeson-Forssman-Lehmann Syndrome	Short toe, Tapered finger, Deeply set eye, Short stature, Blepharophimosis, Camptodactyly of toe,...	ORPHA:127
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Short neck, Abnormal metaphysis morpholog...	ORPHA:2616
Kenny-Caffey Syndrome, Type 1	Small hand, Calvarial osteosclerosis, Birth length less than 3rd percentile, Slender long bone, P...	OMIM:244460
Three M Syndrome 1	Hyperlordosis, Mandibular prognathia, Increased vertebral height, Short 5th finger, Long philtrum...	OMIM:273750
Lenz-Majewski Hyperostotic Dwarfism	Abnormal nasolacrimal system morphology, Increased bone mineral density, Bifid uvula, Abnormal me...	ORPHA:2658
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Triangular shape...	ORPHA:73230
De Barsy Syndrome	Downslanted palpebral fissures, High palate, Coxa vara, Generalized joint laxity, Delayed eruptio...	ORPHA:2962
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
Greenberg Dysplasia	Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Microgna...	OMIM:215140
Malan Syndrome	Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Coxa valga, Advanced eruptio...	OMIM:614753
Rhyns Syndrome	Deeply set eye, Short femoral neck, Short stature, Short long bone, Radial bowing, Ptosis, Osteop...	OMIM:602152
Lacrimoauriculodentodigital Syndrome	Absent thumb, Toe syndactyly, Micrognathia, Microdontia, Bifid uvula, Keratoconjunctivitis sicca,...	ORPHA:2363
3Q27.3 Microdeletion Syndrome	Downslanted palpebral fissures, Mandibular prognathia, Deeply set eye, Short philtrum, Thin upper...	ORPHA:397695
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Synophrys, Bifid uvula, Short neck, Smooth philtrum, Cleft palate, Recurrent fr...	OMIM:309583
Eem Syndrome	Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den...	ORPHA:1897
Dyskeratosis Congenita	Abnormal eyebrow morphology, Recurrent fractures, Periodontitis, Short stature, Hypodontia, Tauro...	ORPHA:1775
Andersen-Tawil Syndrome	Short palpebral fissure, 2-3 toe syndactyly, High palate, Small hand, Short stature, Micrognathia...	ORPHA:37553
Brittle Cornea Syndrome 2	Keratoglobus, Megalocornea, Recurrent fractures, Joint hypermobility, Decreased corneal thickness...	OMIM:614170
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Clinodactyly of the 2nd finger, Hyperlordosis, Dental malocclusion, Long philtrum, Epicanthus, Mi...	ORPHA:73223
Emanuel Syndrome	Hooded eyelid, Multiple joint contractures, Delayed eruption of teeth, Micrognathia, Bifid uvula,...	ORPHA:96170
Loeys-Dietz Syndrome 4	Retrognathia, Protrusio acetabuli, Downslanted palpebral fissures, High palate, Deeply set eye, B...	OMIM:614816
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Tapered finger, Synophrys, Camptodactyly, Overlapping toe, Smooth philtrum, ...	ORPHA:487796
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Epicanthus, Short stature, Hip dislocation, Hypertelorism, Scoliosis, Short...	OMIM:300434
Chromosome 16Q22 Deletion Syndrome	Short palpebral fissure, High palate, Wide anterior fontanel, Epicanthus, Blepharophimosis, Hip d...	OMIM:614541
Cerebrofacioarticular Syndrome	Irregular dentition, Short stature, Epicanthus, Blepharophimosis, Micrognathia, Caudal appendage,...	ORPHA:314679
Microphthalmia With Limb Anomalies

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