Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (1459 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		Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome		Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965

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

Disease	Matching phenotypes	Source
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Cran...	ORPHA:1515
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa...	ORPHA:61
Craniosynostosis 3	Hallux valgus, Ptosis, Right unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusio...	OMIM:615314
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Brittle Cornea Syndrome 1	Joint laxity, Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ...	OMIM:229200
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S...	ORPHA:53697
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis, Synophrys, Dental malocclusion, Deeply set eye	OMIM:615541
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Short stature, Highly arched eyebrow, Micrognathia, Carious...	OMIM:613684
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Epicanthus, Tapered finger, Long fingers, Dental malocclusion, High palate...	OMIM:618292
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Mulibrey Nanism	Dental crowding, Corneal dystrophy, Short stature, Hypertelorism, Absent frontal sinuses, Enamel ...	OMIM:253250
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Proptosis, Sh...	ORPHA:2776
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Hall-Riggs Syndrome	Metaphyseal dysplasia, Epicanthus, Hypertelorism, Kyphosis, Thick lower lip vermilion, Osteoporos...	OMIM:234250
Muenke Syndrome	Ptosis, Broad hallux, Hypertelorism, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epi...	OMIM:602849
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Anonychia-Microcephaly Syndrome	Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition	ORPHA:1094
Ck Syndrome	Epicanthus, Dental crowding, Micrognathia, Almond-shaped palpebral fissure, Hyperlordosis, Kyphos...	OMIM:300831
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Abnormality of the dentition...	ORPHA:576283
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Camptodactyly of f...	ORPHA:137834
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Blepharophimosis, Open bite, Hy...	ORPHA:3079
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Deeply...	OMIM:141300
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Deeply set eye, Persistent...	OMIM:257850
14Q11.2 Microdeletion Syndrome	Epicanthus, Toe syndactyly, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia, Hyperte...	ORPHA:261120
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Downturned corners of mo...	ORPHA:1327
Mcdonough Syndrome	Mandibular prognathia, Short stature, Micrognathia, Open bite, Kyphosis, Synophrys, Hypertelorism...	ORPHA:2471
Microtriplication 11Q24.1	Keratoconus, Thick eyebrow, Short stature, Short neck, Metatarsus adductus, Hypertelorism, Synoph...	ORPHA:289522
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr...	OMIM:619719
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermili...	OMIM:300602
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ...	OMIM:155050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Dysostosis, Stanescu Type	Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Short stature, Abnormal de...	ORPHA:1798
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Developmental catarac...	OMIM:600118
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Overlapping toe, Broad hallux, Highly arched eyebrow, Micrognathia, Short stature, Hypertelorism,...	ORPHA:293967
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Hypertelorism, Limitation of joint mobility, Upper limb undergrowth, Short foot, T...	ORPHA:166277
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Telecanthus, Short neck, Hypertelorism, Short toe, Deeply...	ORPHA:487825
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Monosomy 5P	Microretrognathia, Finger syndactyly, Epicanthus, Short stature, Recurrent fractures, Short neck,...	ORPHA:281
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow...	OMIM:608154
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Short neck, Dental malocclusion, Upslanted palpebral fissu...	ORPHA:436245
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Hypertelorism, Supe...	ORPHA:3473
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Downturned corners of mouth, De...	OMIM:300882
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Filippi Syndrome	2-4 toe syndactyly, Postnatal growth retardation, Cutaneous syndactyly, Finger clinodactyly, Thin...	OMIM:272440
Pierpont Syndrome	Short neck, Microcornea, Deeply set eye, Widely spaced teeth, Short palm, Prominent fingertip pad...	OMIM:602342
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platys...	ORPHA:90653
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Epicanthus, Abnormal dental enamel morphology, Blepharophim...	ORPHA:10
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Short stature, Short neck, Hypertelorism, Thick lower lip ...	ORPHA:2563
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th fing...	OMIM:619293
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Arthrogryposis, Distal, Type 5	Keratoconus, Epicanthus, Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent...	OMIM:108145
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, ...	ORPHA:90354
Chung-Jansen Syndrome	Epicanthus, Thick eyebrow, Micrognathia, Tapered finger, Hypertelorism, Synophrys, Upslanted palp...	OMIM:617991
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte...	OMIM:605282
Larsen-Like Syndrome	Joint laxity, Short stature, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Dental malocc...	OMIM:608545
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Epicanthus, Thick eyebrow, Micrognathia, Postnatal growth retardation, ...	ORPHA:480907
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of the vertebra...	ORPHA:950
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal...	OMIM:210600
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Cleft upper lip, Short neck, Hypertelorism, ...	OMIM:244600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hyperopi...	ORPHA:397973
Otodental Syndrome	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car...	ORPHA:2791
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Winchester Syndrome	Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteoly...	OMIM:277950
Harrod Syndrome	Cataract, Arachnodactyly, Kyphosis, Dental malocclusion, Hypotelorism, Abnormal shoulder morpholo...	ORPHA:2115
Aarskog-Scott Syndrome	Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finge...	ORPHA:915
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Deep...	ORPHA:140976
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal...	OMIM:166300
Wilson-Turner Syndrome	Thin upper lip vermilion, Cataract, Short stature, Malar prominence, Micrognathia, Tapered finger...	ORPHA:3459
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Short neck, Hypertelorism, Limitation of joint ...	ORPHA:1486
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Short stature,...	OMIM:602471
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, ...	ORPHA:457365
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max...	OMIM:231070
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Knee flexion contracture, Deeply set eye, Short philtrum, Wrist flexion contracture...	OMIM:610758
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Epicanthus, Short stature, Micrognathia, Hypertelorism, Pierre-Robin se...	OMIM:613604
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Severe short stature,...	ORPHA:2635
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply set eye, Short phil...	OMIM:614257
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, I...	ORPHA:439822
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Short stature, Short toe, Pier...	OMIM:617877
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Short stature, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth, M...	OMIM:616108
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Mega...	OMIM:249420
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Short stature, Tapered finger, Downturned corners of mouth, Deeply set eye, High palate, Short ph...	ORPHA:85280
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Acrootoocular Syndrome	Abnormal finger flexion crease, Micrognathia, High, narrow palate, Hypotelorism, Anodontia, Short...	ORPHA:2980
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hype...	ORPHA:93346
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cataract, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia...	OMIM:214150
Trisomy 4P	Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Abnormality of the dentit...	ORPHA:1738
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Synophrys, Growth d...	ORPHA:505652
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Trismus...	OMIM:616583
20Q11.2 Microdeletion Syndrome	Brachydactyly, Hypertelorism, Finger clinodactyly, Deeply set eye, Short philtrum, Camptodactyly,...	ORPHA:444051
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Keipert Syndrome	Broad hallux phalanx, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow, Epicanthus, Sh...	ORPHA:2662
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Faciocardiomelic Syndrome	Osteopenia, Ptosis, Telecanthus, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusio...	OMIM:612731
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Deeply set eye,...	ORPHA:2429
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co...	ORPHA:2484
Congenital Disorder Of Glycosylation, Type Iy	Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis, Clinodactyly	OMIM:300934
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, D...	ORPHA:251028
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda...	OMIM:616809
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Severe short stature, Short neck,...	OMIM:612921
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l...	OMIM:102500
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract...	OMIM:265000
Cranioectodermal Dysplasia 4	Smooth philtrum, Epicanthus, Short stature, Sagittal craniosynostosis, Hip dysplasia, Cutaneous f...	OMIM:614378
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Progressive Hemifacial Atrophy	Micrognathia, Abnormal mandible morphology, Deeply set eye, Heterochromia iridis, Ptosis	ORPHA:1214
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Down-sloping shoulders, Abnormal de...	ORPHA:96263
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Keratoconus, Sparse eyelashes, Palpebral edema,...	ORPHA:2067
Alazami Syndrome	Sparse eyebrow, Postnatal growth retardation, Abnormality of the orbital region, Wide mouth, Slen...	ORPHA:319671
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Hypertelorism, 2-3 finger syndactyly, Dent...	OMIM:269500
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Short stature, Abnormal dental...	ORPHA:96264
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Grant Syndrome	Bowing of the long bones, Short stature, Micrognathia, Open bite, Joint hyperflexibility, Abnorma...	ORPHA:2097
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypertelorism, Hypoplasia of the maxilla, Carious teeth...	ORPHA:50814
Fanconi Anemia, Complementation Group S	Epicanthus, Macrodontia, Short stature, Proximal placement of thumb, Hypertelorism, Dental malocc...	OMIM:617883
Short Syndrome	Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Telecanthus, Cataract, Rieger anomal...	OMIM:269880
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape...	OMIM:611174
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas...	ORPHA:63442
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Telecanthus, Thoracic kyphoscoliosis, Severe short statu...	OMIM:203550
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max...	ORPHA:1540
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Short stature, Hypertelorism, Hypoplasia of the maxilla, Narrow...	ORPHA:261295
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Medial flaring of the eyebrow, Epicanthus, Highl...	OMIM:301069
Cohen Syndrome	Short metacarpal, Thick eyebrow, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Tapered...	OMIM:216550
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b...	OMIM:620269
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Joint laxity, Short stature, Micrognathia, Synophrys, 2-3 toe syndactyly, Orofacial cleft, Wide m...	ORPHA:502434
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Bardet-Biedl Syndrome 7	Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Narrow mou...	OMIM:615984
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Dental malocclusion, High palate, Arthrogryposis multiplex congenita, Ptosis	OMIM:608931
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo...	OMIM:614727
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Hypotelorism, Microco...	ORPHA:2710
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone...	ORPHA:2370
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Sho...	ORPHA:71267
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Deep philtrum, Short philtrum, Clinodactyly of the 5th finger, Short stature, Highl...	OMIM:615834
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Freeman-Sheldon Syndrome	Ptosis, Short stature, Camptodactyly of finger, Abnormality of the dentition, Joint stiffness, Hy...	ORPHA:2053
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Lacrimal duct atresia, Ulnar d...	ORPHA:1529
Odontochondrodysplasia 1	Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Osteo...	OMIM:184260
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Ptosis, Epicanthus, Down-sloping shoulders, Carious teeth, Synophrys, Joint hyperflexibility, Sco...	ORPHA:1390
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,...	OMIM:269300
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Cerebellofaciodental Syndrome	Cataract, Short stature, Tapered finger, Sparse eyebrow, Short neck, Dental malocclusion, Shorten...	OMIM:616202
Liang-Wang Syndrome	Thin upper lip vermilion, Hypertelorism, Diastema, Synophrys, Gingival overgrowth, Downturned cor...	OMIM:618729
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Short stature, Coxa...	ORPHA:582
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Hypertelorism, Kyphosis, Non-midline cleft lip, Abnor...	ORPHA:236
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Median cleft lip, Cataract, Hypertelorism, Hypoplasia of the maxilla, Postaxi...	OMIM:136760
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Osteo...	ORPHA:48431
Whistling Face Syndrome, Recessive Form	Micrognathia, Short neck, Knee flexion contracture, High palate, Hypertelorism, Ulnar deviation o...	OMIM:277720
Urban-Rogers-Meyer Syndrome	Epicanthus, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fract...	ORPHA:3409
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Joint laxity, Thin upper lip vermilion, Epicanthus, Hyperopic astigmatism, Micrognathia...	ORPHA:363686
Short Syndrome	Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Severe sh...	ORPHA:3163
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Sacral dimple, Short stature, Hypertelorism, Narrow mouth, Cleft palate, Thin vermili...	OMIM:615502
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shallow o...	OMIM:182212
Alazami Syndrome	Severe short stature, Wide mouth, Narrow palpebral fissure, Deeply set eye, Thick vermilion borde...	OMIM:615071
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Rieger anomaly, Short stature, Coxa valga, Hypoplasia of the maxilla, Hypertelorism,...	OMIM:109120
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Upslanted palpebral...	OMIM:617183
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Micrognat...	OMIM:108721
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Short stature, Accessory oral frenulum, Hypertelorism, Osteolysis involvi...	ORPHA:88630
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Hypophosphatasia, Childhood	Short stature, Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the le...	OMIM:241510
Myopathy, Myofibrillar, 8	Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dental malocclus...	OMIM:617258
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Short neck, Hypertelorism, Thick lower lip vermilion, Dent...	OMIM:157980
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Short stature, Micrognathia, Hypertelorism, Dental malocc...	OMIM:610883
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Wide...	OMIM:601216
Schwartz-Jampel Syndrome	Micrognathia, Short neck, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Pursed ...	ORPHA:800
Diastrophic Dysplasia	Proximal placement of thumb, Micrognathia, Symphalangism affecting the phalanges of the hand, Abn...	ORPHA:628
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Sanjad-Sakati Syndrome	Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal...	ORPHA:2323
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Gorham-Stout Disease	Osteopenia, Abnormality of the cervical spine, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:73
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, W...	ORPHA:3098
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Epicanthus, Dental malocclusion, Upslanted palpebral fissure, Deeply se...	OMIM:619149
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Broad hallux, Short stature, Kyphoscoliosis, High, narrow palate, Atlantoaxial abnormal...	ORPHA:3433
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Deeply set eye...	ORPHA:85279
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Developmenta...	OMIM:610756
Intellectual Developmental Disorder, Autosomal Recessive 45	Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply set eye, Thi...	OMIM:615979
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metac...	OMIM:118651
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye...	OMIM:268850
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr...	OMIM:615761
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Short stature, Joint stiffness, Hyperlordosis, Cleft ...	ORPHA:577
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Tapered finger, Hypertelorism, Small hand, Hypotelorism, Downturned corner...	OMIM:618672
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cleft hard palate, ...	ORPHA:166016
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, Deeply set eye, Hig...	OMIM:193700
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypoplasi...	ORPHA:245
Nance-Horan Syndrome	Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Broa...	OMIM:302350
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, D...	OMIM:618727
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Hypertelorism, Synophrys, Downturned corners of mouth, Wide mouth, Asti...	OMIM:618067
2q37 monosomy	Thin upper lip vermilion, Deeply set eye, Brachydactyly	DECIPHER:44
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Lethal Recessive Chondrodysplasia	Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses	ORPHA:1423
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Avascular...	OMIM:190351
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Epicanthus, Dental crowding, Short stature, Highly arched eyebrow, Persistence of primary teeth, ...	OMIM:618342
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal ey...	ORPHA:2095
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Synophrys, Reduced bone mineral density, Downturned corners of mouth, Genu ...	ORPHA:2983
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo...	OMIM:146000
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormalit...	ORPHA:178303
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Xq27.3Q28 Duplication Syndrome	Short stature, Small hand, Short foot, Deeply set eye, Thin vermilion border, Intrauterine growth...	ORPHA:261483
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Cataract, Selective tooth agenesis, ...	ORPHA:2959
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, Synophrys, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th fin...	OMIM:618443
Gand Syndrome	Long toe, Thin upper lip vermilion, Hypertelorism, Long fingers, Wide mouth, Narrow palpebral fis...	OMIM:615074
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ...	OMIM:259440
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Short stature, Adducted thumb	OMIM:620062
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Kyphoscoliosis, S...	ORPHA:263463
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra...	OMIM:610967
Kabuki Syndrome 2	Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Short stature, Highly arched e...	OMIM:300867
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren...	ORPHA:2050
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Long hallux, Deeply set eye, High palate, Clinodactyly, ...	OMIM:620194
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ...	OMIM:607634
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short...	OMIM:616894
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis, Hypertelorism, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of th...	ORPHA:93262
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joi...	ORPHA:2570
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, H...	OMIM:619797
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Micrognathia, Hypertelorism, Abnormal pup...	ORPHA:52
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn...	ORPHA:970
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Cataract, Short stature, Proportionate short stature, Joi...	OMIM:277600
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Hypoplasia of the maxill...	OMIM:167730
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Hypertelorism, Hypotelorism, De...	OMIM:612940
Proteus Syndrome	Thin bony cortex, Kyphoscoliosis, Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis,...	OMIM:176920
Intellectual Developmental Disorder, X-Linked 108	Thin upper lip vermilion, Deeply set eye, Long philtrum, Clinodactyly of the 5th finger, Downslan...	OMIM:301024
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Epicanthus, Cataract, Short neck, Metatarsus add...	OMIM:123450
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Hypertelorism, Carious teeth, Postnatal growt...	ORPHA:93324
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b...	ORPHA:163649
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Upslanted palpebral fissure, Deep...	ORPHA:496790
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Deep philtrum, Synophrys, Deeply set eye, Short philtrum, Joint contracture of the 5th finger, Pr...	OMIM:620098
Basilicata-Akhtar Syndrome	Short palm, Epicanthus, Tented upper lip vermilion, Telecanthus, Short neck, Short foot, Downturn...	OMIM:301032
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Short stature, Kyphosis, Narrow palate, Short upper lip, Eve...	ORPHA:364028
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo...	OMIM:136300
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Hypertelorism, Postnatal growt...	OMIM:616294
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Hypertelorism, Thick vermilion border, Everted lower...	ORPHA:1193
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Hip dysplasia, High palate, Scoliosis, Ar...	OMIM:611890
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, I...	OMIM:234100
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Hypertelorism, Kyphosis, Oligodontia, Everted lower lip vermilion,...	ORPHA:276630
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Short p...	ORPHA:193
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Hypotelor...	ORPHA:329178
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Short neck, Synophrys, Downtur...	OMIM:300590
Snijders Blok-Campeau Syndrome	Joint laxity, Epicanthus, Hypertelorism, Taurodontia, High palate, Widely spaced teeth, Scoliosis...	OMIM:618205
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Deeply set eye...	OMIM:601559
Pycnodysostosis	Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si...	OMIM:265800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Hyperteloris...	OMIM:122860
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Achi...	OMIM:301041
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thic...	OMIM:102370
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Hypertelorism, Osteopoikilosis, Synophrys, Downturned corners of mou...	ORPHA:94063
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Epicanthus, Recurrent fractures, ...	OMIM:277440
Kury-Isidor Syndrome	Finger syndactyly, Ptosis, Tented upper lip vermilion, Sacral dimple, Rocker bottom foot, Proxima...	OMIM:619762
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Short stature, Highly arched eyebrow, Micrognathia, Hypertelorism, Bilateral ptosis, ...	ORPHA:352490
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Cataract, Foot joint contracture, Severe short stature, ...	ORPHA:444072
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Hypoplasia of the iris, High palate, Short philtrum, Megalocornea, Abno...	ORPHA:2479
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Telecanthus, Highly arch...	ORPHA:313781
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Micrognathia, Short neck, Meta...	OMIM:255800
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Epicanthus, Telecanthus, Sparse eyebrow, High, narrow palate, Thick lower lip vermili...	OMIM:617268
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Micrognathia, Open bite, Carious teeth, Kyphosis, Reduced bone mineral dens...	ORPHA:2617
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Hypotelorism, Shallow orbits, Short palm,...	OMIM:601812
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Micrognathia, Short neck, Kyphosis, High palate, Camptodactyly, Arthrogryposi...	OMIM:618393
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Joint...	OMIM:305400
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Short stature, Micrognathia, Hypertelorism, Wide anterior fontanel, Fibular hypo...	OMIM:201170
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplastic sacrum, Rhizomeli...	OMIM:614813
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilio...	ORPHA:363444
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr...	ORPHA:40
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Epicanthus, Sparse eyelashes, Rocker bottom foot, Short stature, Micrognathia, Tapered finger, Ca...	OMIM:620070
Oculodentodigital Dysplasia	Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger, Microdon...	OMIM:164200
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Ging...	ORPHA:2588
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Thick lower lip ver...	OMIM:618658
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Abnormality of the dentition, Mandibular osteo...	ORPHA:53
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap...	ORPHA:3082
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Patellar hypoplasia, Deeply set eye, High palate, Short ...	ORPHA:3041
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Dental crowding, Micrognathia, Spinal rigidity, Bilateral pt...	OMIM:620351
Congenital Myopathy 17	Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Overlapping toe, Tapered finger, ...	OMIM:618975
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Hypoplasia of the maxi...	ORPHA:2399
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Mandibular prognathia, Recurrent fractures, Hypertelorism, Postnatal growth retardati...	ORPHA:2324
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh...	OMIM:212720
Costello Syndrome	Keratoconus, Epicanthus, Short stature, Abnormal dental enamel morphology, Abnormality of the den...	ORPHA:3071
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac...	OMIM:613849
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal b...	OMIM:618392
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Short stature, Hy...	ORPHA:93296
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp...	OMIM:235510
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Limitation of joint mobility,...	ORPHA:2741
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin...	OMIM:126550
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Epicanthus, Telecanthus, Downturned corner...	OMIM:618590
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Microcornea, Deeply set eye, Hypoplastic i...	OMIM:260660
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hypotelorism, Triphalangeal thu...	ORPHA:794
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb...	OMIM:607095
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Epicanthus, Hypertelorism, Deviation of...	ORPHA:2412
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R...	ORPHA:828
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Synophrys, Deeply set eye, High palate, Long philtrum, Short stature, Highly arched...	OMIM:270450
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micrognathia, Short neck, Lens ...	OMIM:224400
Christianson Syndrome	Mandibular prognathia, Joint hyperflexibility, Deeply set eye, Arthrogryposis multiplex congenita...	ORPHA:85278
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short metatarsa...	OMIM:612463
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, ...	OMIM:263210
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contractu...	OMIM:619720
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Short stature, Malar prominence, Micrognathia, Short neck, Hyperlordo...	ORPHA:2522
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Generalized joint laxity, Deeply set eye, High palate, Hy...	ORPHA:319171
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Camptodactyly, Malar flattening, ...	OMIM:608257
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Forsythe-Wakeling Syndrome	Growth delay, Deeply set eye, Osteoporosis, Short stature	OMIM:613606
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Dental crowding, Shor...	OMIM:617602
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca...	OMIM:215150
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Fountain Syndrome	Synophrys, Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Hypertelor...	ORPHA:3219
Rapp-Hodgkin Syndrome	Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Short stature, Conical tooth, Hypoplasia o...	OMIM:129400
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Hypertelorism,...	OMIM:227330
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Short neck, Almond-shaped palpebral fissure, Hypertelorism, Synophrys, 2-3 toe synd...	OMIM:300860
3Mc Syndrome 2	Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ...	OMIM:265050
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Telecanthus, Severe short stature, Increased skull ossificati...	ORPHA:1422
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Carious teeth,...	OMIM:615560
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Hypotelorism, Upsla...	ORPHA:276422
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro...	ORPHA:1077
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Synophrys, Deeply set eye, High palate, Short...	OMIM:619312
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Highly arched eyebrow, Short toe, Upsla...	OMIM:600430
Trisomy 13	Median cleft lip, Cataract, Abnormality of the dentition, Abnormal eyelash morphology, High, narr...	ORPHA:3378
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr...	OMIM:613680
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Epicanthus, Congenital hip dislocation, Short stature, Micrognathia, Hyper...	OMIM:617052
Localized Scleroderma	Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facial skeleton ...	ORPHA:90289
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Short stature, Abnormality of the dentition, ...	OMIM:182290
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Broad metacarpals, Shor...	OMIM:608328
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Deeply set eye, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, Flexion contracture, 2-3 ...	OMIM:218000
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Highly arched eyebrow, Cleft palate, Deeply set eye, Mal...	OMIM:611867
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Epicanthus, Telecanthus, Cataract, Short stature, Micrognathia, Abnormality of the dentition, Thi...	ORPHA:85321
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Short stature, Coxa valga, Cone-shaped epiph...	ORPHA:166272
Crouzon Syndrome	Hypertelorism, Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple sut...	ORPHA:207
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati...	ORPHA:75840
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Short stature, Tapered finger, Hypertelorism, Cleft lip, Narrow mouth, Small hand, Cl...	OMIM:618089
6P22 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Short neck, Hypotelorism, Deeply set eye, Clinodactyly, Abnormal p...	ORPHA:251046
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Dental malocc...	OMIM:601552
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Hypertelorism, Dacryocystitis, Gingival overgrowth, Patellar...	ORPHA:464288
Marshall Syndrome	Cataract, Sparse eyelashes, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality o...	ORPHA:560
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Postnatal ...	OMIM:619135
Luo-Schoch-Yamamoto Syndrome	Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Ectropion of lower eyelids...	OMIM:619460
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Shallow orb...	OMIM:616580
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig...	OMIM:115150
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Hypertelorism, Gingival overgrowth, Short upper lip, Deeply set eye, Astigmatism, S...	OMIM:616875
Ck Syndrome	Long toe, Microretrognathia, Epicanthus, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, A...	ORPHA:251383
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the...	ORPHA:228396
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Phelan-Mcdermid Syndrome	Thick eyebrow, Epicanthus, Palpebral edema, Sacral dimple, Micrognathia, Hypertelorism, Dental ma...	OMIM:606232
Noonan Syndrome 4	Epicanthus, Short stature, Short neck, Sparse eyebrow, Bilateral ptosis, Hypertelorism, Dental ma...	OMIM:610733
Hypomelanosis Of Ito	Syndactyly, Epicanthus, Cataract, Hypertelorism, Kyphosis, Thick lower lip vermilion, Irregularly...	OMIM:300337
Taurodontism	Taurodontia	OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Abnormal dental enamel morp...	ORPHA:3220
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Short stature, Micrognathia, Thick lower lip vermilion, ...	OMIM:614104
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Downslanted palpebral fissures, Deeply set eye, Tapered finger	OMIM:618512
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Short stature, Hypertelorism, Postnatal growth retardation, Small hand, Deeply set eye,...	OMIM:300845
Gapo Syndrome	Keratoconus, Epicanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, ...	OMIM:230740
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvul...	OMIM:615777
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste...	OMIM:619718
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Short hallux, Long fingers, Deeply set eye, Clinodactyly of the 5th fin...	OMIM:620393
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,...	OMIM:600920
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Short stature, Abnormal dental enamel morphology, Joint st...	ORPHA:2107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Smal...	OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Abnormal dental ...	ORPHA:1458
Nail-Patella Syndrome	Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodactyly ...	OMIM:161200
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, High palate, Short hallux, Tapered finger, Highly arched e...	OMIM:608156
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Proptosi...	ORPHA:1310
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Emanuel Syndrome	Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Delayed eruption of primar...	OMIM:609029
Frontorhiny	Ptosis, Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Hypertelorism, Hypop...	ORPHA:391474
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Deeply set eye, Peters anomaly, Downslanted palpebral fissures, ...	OMIM:614526
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Broad eyebrow, Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypertelor...	ORPHA:481152
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Telecanthus, Hypertelorism, Flared metaphysis, Dela...	OMIM:218400
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa...	OMIM:211380
Perlman Syndrome	Epicanthus, Micrognathia, High, narrow palate, Abnormal upper lip morphology, Deeply set eye, Bro...	ORPHA:2849
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Downslanted palpebral fissures, Deeply set eye, Short philtrum	OMIM:300471
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate	OMIM:310400
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Corneal opacity, Sh...	ORPHA:1830
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Joint hypermobility, Almond-shaped palpebral fissure, Cl...	OMIM:619504
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Crani...	ORPHA:2462
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal eyelid morphology, Carious teeth, Conical tooth, Hypertelorism, Ectro...	ORPHA:1997
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Upslanted palpebra...	OMIM:618737
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Thoracic scoliosis, Short statur...	OMIM:613848
Greenberg Dysplasia	Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi...	OMIM:215140
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Hypertelorism, Carious teeth, Small hand, Short foot, Slender long b...	OMIM:244460
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Joint stiffness, Postnatal growth retardation, Pierre-Robi...	OMIM:619184
8P23.1 Duplication Syndrome	Toe syndactyly, Highly arched eyebrow, Hypertelorism, Deeply set eye, Thick vermilion border, Lon...	ORPHA:251076
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Hypertelorism, Metaphyseal widening, Abnormal form of...	ORPHA:73230
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, High palate, Scoliosis	OMIM:611225
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, Hypertelorism, Abnormal form of...	ORPHA:2645
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Corneal opacity, C...	ORPHA:2962
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Short stature, Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Scol...	OMIM:300434
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Short stature, Kyphosis, Limited elbow extension, Small hand, ...	OMIM:180870
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
3M Syndrome	Congenital hip dislocation, Hypoplastic ischia, Short neck, Increased vertebral height, Clinodact...	ORPHA:2616
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High...	OMIM:309583
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synoph...	OMIM:620369
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn...	ORPHA:487796
Three M Syndrome 1	Mandibular prognathia, Thick eyebrow, Short stature, Short neck, Hyperlordosis, Increased vertebr...	OMIM:273750
Borjeson-Forssman-Lehmann Syndrome	Cataract, Short stature, Tapered finger, Blepharophimosis, Short toe, Orofacial cleft, Joint hype...	ORPHA:127
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Hypertelorism, Upslanted palpebral fissure, Narrow palpebral f...	OMIM:618087
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Dental crowding, Hooded eyelid, Microgna...	ORPHA:96170
Dyskeratosis Congenita	Abnormal eyebrow morphology, Cataract, Short stature, Recurrent fractures, Abnormality of the den...	ORPHA:1775
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Short stature, Osteoporosis, Deeply set eye, Short long bone, ...	OMIM:602152
X-Linked Intellectual Disability, Stocco Dos Santos Type	Epicanthus, Cataract, Short stature, Kyphosis, Congenital bilateral hip dislocation	ORPHA:85288
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Arachnodactyly, Dental crowding, Kyphoscoliosis,...	ORPHA:397695
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Eem Syndrome	Finger syndactyly, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ...	ORPHA:1897
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu...	ORPHA:37553
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Long hall...	ORPHA:420561
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Short neck, Wide anterior fontanel...	OMIM:614541
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Epicanthus, Highly arched eyebrow, Hypertelorism, Kyp...	OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Cataract, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:620157
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involvin...	ORPHA:1190
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Epicanthus, Short stature, Micrognathia, Hypoplasia ...	ORPHA:314679
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Abnormal limb bone morphology,...	ORPHA:2204
Loeys-Dietz Syndrome 4	Joint laxity, Flat cornea, Arachnodactyly, Protrusio acetabuli, Hypertelorism, High, narrow palat...	OMIM:614816
Arterial Tortuosity Syndrome	Joint laxity, Keratoconus, Arachnodactyly, Micrognathia, Hypertelorism, Flexion contracture, Asti...	OMIM:208050
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t...	OMIM:123500
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Short stature, Metatarsus adductus, Hypoplasia of the ma...	ORPHA:293939
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Hyper...	ORPHA:377
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog...	ORPHA:1133
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Short stature, Ankle flexion contracture, Elbow flexion contracture, Knee flexio...	ORPHA:85285
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Delayed eruption of primary teeth, Carious teeth, Ky...	OMIM:133540
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Epicanthus, Short stature, Craniosynostosis, Hypertelorism, Wide mou...	OMIM:619056
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Epicanthus, Micrognathia, Hyperlordosis, Synophrys, Dental malocclusion...	ORPHA:73223
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Deeply set eye	ORPHA:137831
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Short neck, High, narrow palate, Synophrys, Prominent protruding coccyx, Deeply set e...	OMIM:300966
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Do...	ORPHA:1299
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo...	ORPHA:2916
Galloway-Mowat Syndrome 5	Mandibular prognathia, Deeply set eye, Epicanthus, Hypertelorism	OMIM:617731
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ...	ORPHA:1855
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Short stature	ORPHA:93950
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Entropion, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Deeply set eye, High palate, Short...	OMIM:609944
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Narrow palpebral fissure, Synophrys, Broad eyebrow	OMIM:618302
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp...	ORPHA:289157
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem...	OMIM:619142
Arterial Tortuosity Syndrome	Keratoconus, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis...	ORPHA:3342
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Hypertelorism, Increased intervertebral space, Thoracic platyspon...	OMIM:618961
Warburg-Cinotti Syndrome	Epicanthus, Dental crowding, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, ...	OMIM:618175
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Short stature, Recurr...	OMIM:616229
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Ectopia lentis, Long f...	OMIM:616914
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Dee...	ORPHA:508533
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, Taurodontia,...	OMIM:211900
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Abnormal pupil morphology, G...	ORPHA:534
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Hype...	ORPHA:1005
Schaaf-Yang Syndrome	Mandibular prognathia, Thick eyebrow, Abnormality of the philtrum, Rocker bottom foot, Short stat...	OMIM:615547
Acrofacial Dysostosis, Catania Type	Short stature, Carious teeth, Short palm, Intrauterine growth retardation, Spina bifida occulta	OMIM:101805
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Short stature, Hypertelorism, Congenital ptosis, Deeply set eye, Long philtrum, Retrogn...	ORPHA:280679
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the ...	ORPHA:79113
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba...	OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Deeply set eye	OMIM:614113
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Deeply set eye, Short philtrum, ...	ORPHA:96121
Ritscher-Schinzel Syndrome 4	Short stature, Tapered finger, Hypertelorism, Hip dislocation, Narrow palate, Hypotelorism, Wide ...	OMIM:619435
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Short stature, Micrognathia, Hypo...	OMIM:300534
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Hip dysplasia, Macrodontia of permanent maxillary central incisor, Retrognathia, ...	ORPHA:466722
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Synophrys, Hypotelorism, Downturned corners of mouth, Oligodontia, Shor...	ORPHA:391408
Axenfeld-Rieger Syndrome	Telecanthus, Posterior embryotoxon, Hypertelorism, Hypoplasia of the maxilla, Aplasia/Hypoplasia ...	ORPHA:782
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Epicanthus, Cataract, Severe short sta...	ORPHA:2780
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypertelorism, Wide anterior fon...	OMIM:619736
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Short stature, Rhizomelia, Craniosynostosis, Micrognathia, Blepharophimosis, Hypotelo...	OMIM:614114
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Ectropion, Sparse eyelashes, Micro...	OMIM:209885
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Short stature, Micrognathia, Short neck, Hypertelorism,...	ORPHA:96061
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Synophrys, Narrow palpebral fissur...	OMIM:618828
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Synophrys, 2-3 toe syndactyly, Growth delay, Deeply set eye, High palate, Short philt...	ORPHA:3306
Combined Oxidative Phosphorylation Deficiency 31	Wide mouth, Deeply set eye, Cataract, Micrognathia	OMIM:617228
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Micrognathia, Gingival overgrowth, Deeply set eye, Astigmatism, Short philtrum, Scoliosis, Promin...	ORPHA:480898
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral...	OMIM:166220
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis...	OMIM:610968
Wiedemann-Steiner Syndrome	Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Lo...	OMIM:605130
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Toe syndactyly, Short stature, Camptodactyly of finger, Proximal p...	ORPHA:261211
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Short stature, Absent pubertal growth spurt, Hypertelorism, Kyphosis, Hip dislocation, Downturned...	ORPHA:464282
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Hypertelorism, 2-3 toe syndactyly, Downturned corners of mouth, Lobulat...	OMIM:613443
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Short foot, High palate, Short philtrum, ...	ORPHA:254531
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Short stature, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Cleft ...	OMIM:616462
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,...	OMIM:303600
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Clinodactyly of the 5th fi...	OMIM:608747
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Thick upper lip...	ORPHA:163654
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Sandal gap, Abnormal dental enamel morphology, Abnormal eyelid morphology, Hypertelor...	ORPHA:1812
Proximal 16P11.2 Microduplication Syndrome	Thin upper lip vermilion, Sparse eyelashes, Arachnodactyly, Short stature, Hypertelorism, Sparse ...	ORPHA:370079
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Hypertelorism, Deeply set eye, Thin vermilion border, Short philtrum, Intrauterine ...	ORPHA:261304
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth	OMIM:620007
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Short stature, Micrognathia, Avascul...	ORPHA:77258
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Short stature, Kyphoscoliosis, Abnormality of the dentition, Synophrys, 2-3 toe syndactyly, Deepl...	ORPHA:391307
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture...	OMIM:619040
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Hemivertebrae, ...	OMIM:224690
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Abnormality ...	ORPHA:861
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Hypert...	OMIM:156400
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Biconvex vertebral bodies, Short...	ORPHA:353298
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hyp...	OMIM:139210
Nabais Sa-De Vries Syndrome, Type 2	Micrognathia, Tapered finger, Sparse eyebrow, Hypertelorism, Bilateral cleft lip and palate, Deep...	OMIM:618829
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S...	OMIM:614188
Wieacker-Wolff Syndrome	Ptosis, Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyph...	OMIM:314580
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rick...	OMIM:613312
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Short stature, Upslanted palpebral fissure, Deeply set eye, High palate...	OMIM:300558
W Syndrome	Hypoplasia of the ulna, Telecanthus, Radial bowing, Broad uvula, Hypertelorism, Metatarsus adduct...	ORPHA:2804
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Short stature, Cleft upper lip,...	OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis	OMIM:300676
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur...	ORPHA:1883
Nizon-Isidor Syndrome	Unilateral ptosis, Thin upper lip vermilion, Hypertelorism, Sparse eyebrow, Long fingers, High, n...	OMIM:618872
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, Abnormal size of the palpebral fissures, High, narrow pal...	ORPHA:3214
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os...	ORPHA:93315
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Cataract, Short stature, Delayed eruption of primary teet...	OMIM:216400
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Short stature, Micrognathia, Abnormal eyelid morphology, Hig...	ORPHA:1787
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermili...	OMIM:613804
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Syno...	OMIM:300280
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Hypertelorism, Kyphosis, Synophrys, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Microcephaly-Capillary Malformation Syndrome	Ptosis, Short stature, Hypertelorism, Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Shor...	OMIM:614261
Rubinstein-Taybi Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalan...	ORPHA:783
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal...	ORPHA:352665
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Postnatal growth retardation, ...	ORPHA:251061
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn...	OMIM:213980
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Short neck, Synoph...	OMIM:609460
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Microcornea, Deeply set eye, Short philtrum, Joint contracture of the 5th ...	ORPHA:363611
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Juvenile catarac...	ORPHA:2909
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla...	ORPHA:93333
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Short stature, Con...	ORPHA:808
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Abnormal intervertebral disk morphology, Short stature, Hypertelorism, Carious teeth,...	ORPHA:2701
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl...	OMIM:613805
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper...	OMIM:106260
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Osteoporosi...	ORPHA:73272
Joubert Syndrome 37	Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Hypertelorism, Deeply set eye, High p...	OMIM:619185
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Deeply set eye, Ectopia lentis	OMIM:272300
Qazi-Markouizos Syndrome	Tapered finger, Hypertelorism, High, narrow palate, Hypoplasia of teeth, Delayed ossification of ...	ORPHA:3010
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypertelorism, Deeply set eye, Scoliosis, Intrauterine growth retarda...	OMIM:616355
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Gingival overgr...	OMIM:614592
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Deeply set eye, Epicanthus, Short stature	OMIM:619058
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Congenital contracture, High palate, Arachnodactyl...	OMIM:248700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Hypert...	ORPHA:2256
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Short stature, Craniosynostosis, Micrognathia, Carious teeth, Highly arc...	ORPHA:3132
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contra...	OMIM:608149
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Epicanthus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Sparse ...	OMIM:618004
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cataract, Hypertelorism, Developmental glaucoma, Flexion contracture, Hip dislocation...	OMIM:614438
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,...	OMIM:600987
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Broad toe, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Highly arched eyebrow...	OMIM:616900
Prader-Willi Syndrome Due To Translocation	Micrognathia, Short neck, Hypotelorism, Downturned corners of mouth, Deeply set eye, High palate,...	ORPHA:177907
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Delayed puberty	ORPHA:2598
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Short stature, Aplasia/Hypoplasia of the patella,...	OMIM:613803
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Overlappi...	OMIM:619148
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Upslanted palpebral fissure, Deeply set eye, Short philtrum, Open mouth, Thick ey...	ORPHA:228384
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En...	OMIM:307800
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Short neck, Abnormal pupil ...	ORPHA:233
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Microcornea, Everte...	OMIM:601499
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Juvenile cataract, Short phalanx of fi...	ORPHA:221016
Stüve-Wiedemann Syndrome	Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smooth tongue, S...	ORPHA:3206
Flynn-Aird Syndrome	Cataract, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, ...	ORPHA:3121
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Tapered finger, Micrognathia, Narrow mouth, Carious teeth, Trismus, E...	OMIM:272430
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Short neck, Flexion contractu...	OMIM:263650
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Limited elbow movement, Micrognathia, Hypopl...	OMIM:261540
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Epicanthus, Hypertelorism, Cleft palate, Narrow palpebral fissure, Deep...	OMIM:619493
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Short stature, Hypertelorism, Wide anterior f...	OMIM:607812
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Corneal erosion, Sco...	ORPHA:816
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Joint laxity, Short stature, Hypertelorism, Scoliosis, Narrow mouth,...	ORPHA:94065
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Telecanthus, Broad hallux, Tapered finger, Micrognathia, Short thumb, Short neck, Cervical spinal...	OMIM:620224
Ohdo Syndrome	Joint laxity, Ptosis, Epicanthus, Short stature, Micrognathia, Sparse eyebrow, Blepharophimosis, ...	OMIM:249620
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep...	OMIM:602400
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Scoliosis	ORPHA:1548
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Short stature, Highly arched e...	OMIM:613792
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Dentinogenesis i...	OMIM:616507
Amyotrophy, Hereditary Neuralgic	Epicanthus, Short stature, Cleft palate, Hypotelorism, Upslanted palpebral fissure, Deeply set ey...	OMIM:162100
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Bilateral ptosis, Deep philtrum, Downturned corners of mouth, Deeply set eye, Downslanted palpebr...	OMIM:618859
4Q21 Microdeletion Syndrome	Toe syndactyly, Abnormality of the dentition, Short neck, Kyphosis, Synophrys, Hypertelorism, Sma...	ORPHA:238750
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Juvenile cataract, Short phalanx of finger, Genu va...	ORPHA:221008
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ...	OMIM:309520
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Deeply set eye, Narrow mouth, Brachydactyly	OMIM:616459
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Short stature, Proximal placement of thumb, Micrognathia, Taper...	ORPHA:251071
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners...	ORPHA:251014
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Deviation of finger, Deeply set eye, Congenital finger flexion c...	ORPHA:1154
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Short stature, Frontal open bite, Micrognathia...	OMIM:225410
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Glycogen Storage Disease Iii	Thin upper lip vermilion, Short stature, Deeply set eye, Thin vermilion border, Malar flattening	OMIM:232400
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arch...	ORPHA:2712
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosi...	ORPHA:447980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, Overlapping toe, High, narrow palate, Cleft palate, Deeply ...	OMIM:618494
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Short stature, Thorac...	OMIM:212066
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Short stature, Corneal dystrophy, Upslanted palpebral fissure, Deeply s...	OMIM:617763
Cenani-Lenz Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy...	ORPHA:3258
Malan Overgrowth Syndrome	Slender long bone, Deeply set eye, High palate, Scoliosis, Narrow mouth, Downslanted palpebral fi...	ORPHA:420179
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, Epicanthus, Tented upper lip vermilion, Corneal opacity, Short ...	ORPHA:488632
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hy...	ORPHA:3145
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Microdontia, Finge...	ORPHA:1896
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Narrow mouth, Synophrys, Short neck, Hypertelorism, Narrow palate, ...	OMIM:620250
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Lower e...	OMIM:118400
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Sparse lateral eyebrow	OMIM:614564
Joubert Syndrome 14	Epicanthus, Tented upper lip vermilion, Postaxial polydactyly, Highly arched eyebrow, Hypertelori...	OMIM:614424
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, ...	ORPHA:261330
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Short neck, Hypertelorism, Synophrys, Downturned corners of mouth, Deep...	OMIM:616708
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Blepharophimosis, Hyperlordosis, Po...	ORPHA:293843
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Short stature, Upslanted palpebral fissure, Growth delay, Abnormal cort...	ORPHA:2512
Stickler Syndrome, Type I	Cataract, Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, O...	OMIM:108300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Rocker bottom foot,...	OMIM:619951
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Cataract, Abnormal dental morphology, Camptodactyly...	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Oligodontia, High palate, Short philtrum, Clinodactyly ...	OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 29	Dental crowding, Synophrys, Deeply set eye, Cutaneous finger syndactyly, High palate, Lumbar hype...	OMIM:616078
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short...	ORPHA:1865
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Short stature, C...	OMIM:617102
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Bethlem Myopathy 2	Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Deeply set eye, Thin vermilion bor...	ORPHA:544254
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Shallow o...	OMIM:101400
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Short foot, Downturned corner...	ORPHA:254525
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Wide mouth, Deeply set eye, Scoliosis, Thin eyebrow, Intrauterine growth retardatio...	OMIM:617635
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Williams-Beuren Region Duplication Syndrome	Short stature, Micrognathia, Diastema, Deeply set eye, Long eyelashes, High palate, Short philtru...	OMIM:609757
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Hypertelorism, Gingival overgrowth...	ORPHA:561
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Short stature...	OMIM:618150
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Short stature, Wide anterior fontanel, Growth delay, Ab...	OMIM:614886
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia lentis, Hyperteloris...	OMIM:218340
Paganini-Miozzo Syndrome	Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Thin vermilion border, Malar ...	OMIM:301025
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl...	OMIM:614815
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Smooth philtrum, Dental crowding, Micrognathia, Long fingers, Upslanted palpebral fissure, Deeply...	OMIM:618343
Hereditary Sensory And Autonomic Neuropathy Type 5	Abnormality of the dentition, Abnormality of the gingiva, Painless fractures due to injury, Deepl...	ORPHA:64752
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Cleft palate, Deeply set eye, Abnormal vertebral mo...	ORPHA:261272
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T...	ORPHA:583
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Short stature, Micrognathia, Short neck, Kyphosis, Scoliosis, Microdontia, Synostosis...	ORPHA:3191
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Marbach-Rustad Progeroid Syndrome	Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine...	OMIM:619322
Pitt-Hopkins Syndrome	Short fourth metatarsal, Short neck, Deep philtrum, Deeply set eye, Short philtrum, Widely spaced...	OMIM:610954
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, A...	ORPHA:85199
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met...	OMIM:619638
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Epicanthus inversus, Flexion contracture, Hypotelorism, Deeply set eye, Oligodontia...	OMIM:309590
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Synophrys, Hip dislocation, Gingival overgrowth, Growth delay, Deeply set eye, Long...	OMIM:619428
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Dental crowding, Synophrys, Hypotelorism, Downturned corners of mouth, Deeply ...	OMIM:301044
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Epicanthus, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal growth retardation...	ORPHA:3369
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ...	OMIM:268400
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Tracheomalacia, Highly arched...	ORPHA:1001
Pitt-Hopkins Syndrome	Tapered finger, Short neck, Postnatal growth retardation, Broad fingertip, Small hand, Short meta...	ORPHA:2896
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Downturned corners of mo...	ORPHA:955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Short neck, Wide distal femoral metaphysis, Postnatal growt...	OMIM:613320
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Abnorm...	OMIM:612394
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Sacral dimple, Short stature, Deeply set eye, High palate, Clinodactyly...	OMIM:618480
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Sh...	OMIM:163200
Carpenter Syndrome 2	Short neck, High, narrow palate, Ectropion of lower eyelids, Preaxial polydactyly, Coxa vara, Kne...	OMIM:614976
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Abnormality of pri...	ORPHA:438216
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Short stature	ORPHA:93945
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, I...	OMIM:616817
Chromosome Xq27.3-Q28 Duplication Syndrome	Short stature, Small hand, Short foot, Deeply set eye, Thin vermilion border, Intrauterine growth...	OMIM:300869
Martin-Probst Syndrome	Epicanthus, Telecanthus, Short stature, Micrognathia, Hypertelorism, Thick lower lip vermilion, D...	OMIM:300519
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Highly arched eyebr...	OMIM:618316
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi...	ORPHA:263508
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Lateral...	OMIM:300166
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Short ...	OMIM:613026
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, High palate, Sc...	ORPHA:178148
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho...	OMIM:613458
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat...	OMIM:618291
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,...	ORPHA:1716
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Absent eyelashes, S...	ORPHA:544488
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short stature, Joint stiffness, Short ...	OMIM:252940
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short toe, Shor...	OMIM:103580
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Sandal gap, Tapered finger, Dow...	OMIM:618430
Richieri Costa-Da Silva Syndrome	Short stature, Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck, Lim...	ORPHA:3101
Orofaciodigital Syndrome Iii	Hypertelorism, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxi...	OMIM:258850
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Megalocornea, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hype...	ORPHA:313855
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Chromosome 5Q12 Deletion Syndrome	Long toe, Epicanthus, Sacral dimple, Micrognathia, Short neck, Long fingers, Postnatal growth ret...	OMIM:615668
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita...	OMIM:609384
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Mandibular prognathia, Sandal gap, Short stature, Kyphosis, Thick lower lip vermili...	OMIM:300354
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Mosaic Variegated Aneuploidy Syndrome 3	Short stature, Cleft palate, Growth delay, Deeply set eye, Arthrogryposis multiplex congenita	OMIM:617598
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Progressive alveolar ridge hypertro...	OMIM:252500
Acrocephalopolydactyly	Epicanthus, Hypertelorism, Short neck, Short long bone, Brachydactyly	ORPHA:221054
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne...	OMIM:228520
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Short stature, Craniosynostosis, Absent thumb, Micrognathia, ...	ORPHA:96097
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti...	ORPHA:2062
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Sandal gap, Hypertelorism, Long fingers, Macroglossia, Deep...	ORPHA:357001
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomati...	ORPHA:2215
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Short philtrum, Conjunctiviti...	OMIM:616268
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Bilateral p...	ORPHA:404440
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Epicanthus, Dental crowding, Micrognathia, Short neck, High, narrow pa...	ORPHA:2789
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Hypertelorism, Kyphosis, Synophrys, Scoliosis	OMIM:300861
Koolen-De Vries Syndrome	High, narrow palate, Vertebral segmentation defect, Microdontia, Vertebral fusion, Arachnodactyly...	ORPHA:96169
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Telecant...	ORPHA:50945
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Tapered finger, Short 3rd toe, Upslanted palpebral fissure, Joint hyperflexibility, Deeply set ey...	OMIM:618707
Cockayne Syndrome	Deeply set eye, Congenital contracture, Lentiglobus, Abnormal dental morphology, Agenesis of perm...	ORPHA:191
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased skull ossif...	OMIM:618476
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Osteopenia, Epicanthus, Telecanthus, Arachnodactyly, Sparse eyelashes, Kyphoscoliosis, ...	ORPHA:75496
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Abnormal hip bone morphology, Cl...	ORPHA:3236
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
Roifman Syndrome	Hip contracture, Short metacarpal, Thin upper lip vermilion, Biconvex vertebral bodies, Short sta...	OMIM:616651
Neuroocular Syndrome	Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Downturned corners of mouth, M...	OMIM:619539
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short...	ORPHA:96334
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Postnatal growth retardatio...	OMIM:179613
Hydrolethalus	Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft pala...	ORPHA:2189
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Micrognathia, Postnatal growth retardation, Small hand, Cleft palate, Short foot, ...	ORPHA:96184
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra...	OMIM:121050
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Cataract, Short stature, Short foot, Joint hype...	ORPHA:250989
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Short ...	ORPHA:35173
Encephalopathy Due To Sulfite Oxidase Deficiency	Deeply set eye, Ectopia lentis, Thick vermilion border, Long philtrum	ORPHA:833
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Cutaneous syndactyly of toes, Deeply set eye, H...	OMIM:618332
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Short stature, Deeply set eye, Oligodontia, Hypodontia, Delayed puberty	ORPHA:447896
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea...	OMIM:607014
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol...	OMIM:612651
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Coronal craniosynostosis, Clinodactyly o...	OMIM:257920
Typical Nemaline Myopathy	Ptosis, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, ...	ORPHA:171436
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Short stature, Tapered finger, Upslanted palpebral fissure	ORPHA:401777
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Severe short stature, Micrognathia, Short long bone, Dispropo...	OMIM:224410
Horner Syndrome, Congenital	Congenital Horner syndrome, Deeply set eye, Heterochromia iridis	OMIM:143000
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal ...	ORPHA:1101
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Spondylometaphyseal Dysplasia, Kozlowski Type	Disproportionate short-trunk short stature, Irregular, rachitic-like metaphyses, Short neck, Kyph...	OMIM:184252
Monosomy 18P	Ptosis, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Cleft...	ORPHA:1598
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Cockayne Syndrome Type 1	Mandibular prognathia, Cataract, Foot joint contracture, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia...	OMIM:610829
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyly of the 5th finger,...	OMIM:210730
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, P...	OMIM:248370
Bachmann-Bupp Syndrome	Thin upper lip vermilion, Absent eyebrow, Sparse eyelashes, Blepharophimosis, Hypertelorism, Deep...	OMIM:619075
Noonan Syndrome 1	Ptosis, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate,...	OMIM:163950
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal wi...	OMIM:602535
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Pettigrew Syndrome	Mandibular prognathia, Flexion contracture, Wide mouth, Deeply set eye, Thick vermilion border, S...	OMIM:304340
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft...	OMIM:620107
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Joint laxity, Craniosynostosis, Micrognathia, Hypertelorism, Upslanted palpebral fissure, Deeply ...	ORPHA:412069
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Broad hallux, 2-3 toe syndactyly, Wide mouth, Deeply set eye, Astigmatism, High palat...	OMIM:619934
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone...	OMIM:259050
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W...	ORPHA:79500
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Hypertelorism, Hypoplasi...	ORPHA:306542
Distal Triplication 15Q	Telecanthus, Arachnodactyly, Corneal dystrophy, Craniosynostosis, Micrognathia, Hypertelorism, Ky...	ORPHA:314588
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Hypertelorism, Micrognathia, Wide anterior fontanel, Kyphosis	OMIM:618272
Angelman Syndrome	Mandibular prognathia, Keratoconus, Iris hypopigmentation, Protruding tongue, Wide mouth, Astigma...	ORPHA:72
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Juvenile cataract, Short 5th meta...	ORPHA:1264
X-Linked Intellectual Disability, Cilliers Type	Short stature, Small hand, Deeply set eye, Clinodactyly of the 5th finger, Coronal craniosynostosis	ORPHA:163971
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th finger, Syndacty...	OMIM:616975
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Lacrimal duct stenosis, Palpebral edema, Hyperlordosis, Hypertelorism, Dermatochalasi...	ORPHA:221139
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, Growth del...	OMIM:608612
Cranio-Osteoarthropathy	Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger...	ORPHA:1525
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Short stature, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Galloway-Mowat Syndrome 3	Epicanthus, Arachnodactyly, Short stature, Micrognathia, Hypertelorism, Narrow mouth, Hip disloca...	OMIM:617729
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Short neck, Sparse eyebrow, Kyphos...	OMIM:302960
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Short stature, Highly arched eyebrow, Cleft upper lip, Shor...	OMIM:243310
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short metatarsa...	OMIM:612462
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Micrognathia, Sparse eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Growth delay...	OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Hypertelorism, Synophrys, Downturned corners of mouth, Deeply set eye, Asti...	OMIM:617796
Mucolipidosis Iii Gamma	Short stature, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis, Kyphos...	OMIM:252605
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac...	OMIM:105830
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Deeply set eye, Short stature, Hip dislocation, Scoliosis	OMIM:619059
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Growth delay	OMIM:204000
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Epicanthus, Short stature, Highly arched eyebrow, Micrognathia, Hyperte...	OMIM:618454
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Deeply set eye, ...	OMIM:136140
Xylt1-Cdg	Joint laxity, Short stature, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Growth delay...	ORPHA:370930
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300554
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Kyphosis, Osteoporosis, Proptosis, Scoliosis, Narrow mouth, Joint ...	OMIM:615381
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ...	ORPHA:1354
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, Deepl...	OMIM:617140
Acro-Renal-Mandibular Syndrome	Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia...	ORPHA:958
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat...	ORPHA:536532
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Genitopalatocardiac Syndrome	Micrognathia, Hypertelorism, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cleft p...	ORPHA:2075
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
X-Linked Intellectual Disability, Cabezas Type	Short neck, Synophrys, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, S...	ORPHA:85293
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Highly arched eyebrow, Abnormality of the dentition, Short neck, Wide mouth, Upsla...	OMIM:615802
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Duplication of thumb phalanx, Conical tooth, Abnormal thumb morphology, ...	OMIM:620192
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Micrognathia, Short neck, 2-3 toe cutaneous syndactyly, High palate, ...	OMIM:609625
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the...	OMIM:619269
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Hyperte...	OMIM:619194
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Small hand, Retrognathia, Short...	ORPHA:488434
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of...	ORPHA:531151
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, Developm...	ORPHA:90322
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Epicanthus, Sandal gap, Craniosynostosis, Short neck, Hyperteloris...	ORPHA:254346
Rauch-Steindl Syndrome	Epicanthus, Telecanthus, Sacral dimple, Short stature, Highly arched eyebrow, Micrognathia, Almon...	OMIM:619695
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Hypotelorism, Downturned corners of mouth, Deeply ...	OMIM:264090
Warburg Micro Syndrome 4	Short stature, Narrow mouth, Flexion contracture, Developmental cataract, Microcornea, Severe pos...	OMIM:615663
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo...	OMIM:617022
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Short philtr...	ORPHA:464738
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Silver-Russell Syndrome 3	Syndactyly, Short stature, Elbow contracture, Postnatal growth retardation, Small hand, Antecubit...	OMIM:616489
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb,...	ORPHA:476126
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Prolidase Deficiency	Arachnodactyly, Micrognathia, Carious teeth, Hypertelorism, Reduced bone mineral density, Genu va...	ORPHA:742
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Hypertelorism, Upslanted palpebral fissure, Deeply set ...	OMIM:612242
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ...	OMIM:600373
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Hip dysp...	ORPHA:2655
Al Kaissi Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Sacral dimple, Short stature, Hyp...	OMIM:617694
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Micrognathia, Short neck, Hypertelorism, Synophrys, Upper limb undergro...	ORPHA:529962
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak...	OMIM:253220
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Hypertelorism, Deep philtrum, Everted lower lip vermilion, Long phi...	OMIM:137550
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Lens su...	OMIM:609008
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Scoliosis	OMIM:616756
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Deeply set eye, Short stature	OMIM:300699
15Q14 Microdeletion Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Deeply set eye, Short philtr...	ORPHA:261190
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Hypertelo...	ORPHA:3474
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Proximal placement of thumb, Hypertelorism, Kyphosis, High palate, Short philtrum, Do...	OMIM:615433
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Tented upper lip vermilion, Cataract, Hypertelorism, Kyphosis, 2-3 toe syndactyly, Cl...	OMIM:616449
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Arachnodactyly, Deeply set eye, Scoliosis, Joint hypermobility	OMIM:619013
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Thick upper lip vermilion, Epicanthus, Mydriasis, Short ...	OMIM:619727
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphology, Trichiasis, Cleft up...	OMIM:601701
Baralle-Macken Syndrome	Cataract, Tapered finger, High, narrow palate, Kyphosis, Upslanted palpebral fissure	OMIM:619255
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Abnormality of the dentition...	ORPHA:93
Monosomy 22Q13.3	Epicanthus, Sacral dimple, Dental crowding, Palpebral edema, Dental malocclusion, Deeply set eye,...	ORPHA:48652
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Short neck, Synophrys, Hypotelorism, Deeply set eye, Widely ...	OMIM:612474
Ssr4-Cdg	Abnormality of upper lip vermillion, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis	ORPHA:370927
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Short stature, Limb joint contracture, Kyphoscoliosis, Carious teeth, Hypodontia, Delayed puberty	OMIM:612079
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Micrognathia, Synophrys, Short phi...	OMIM:619841
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly...	OMIM:305600
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Epicanthus, Toe syndactyly, Palpebral edema, Camptodactyly of finger, Sacr...	ORPHA:261337
1p36 microdeletion syndrome	Deeply set eye	DECIPHER:18
Stromme Syndrome	Cataract, Sclerocornea, Micrognathia, Hypertelorism, Preaxial polydactyly, Cleft palate, Wide mou...	OMIM:243605
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia	OMIM:226700
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, High palate, Arachnodactyly, Short stature, Retrog...	OMIM:612513
3C Syndrome	Finger syndactyly, Short stature, Micrognathia, Short neck, High, narrow palate, Kyphosis, Postna...	ORPHA:7
Gm1 Gangliosidosis	Mandibular prognathia, Corneal opacity, Camptodactyly of finger, Short stature, Joint stiffness, ...	ORPHA:354
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth, Short stature	ORPHA:2760
Silent Sinus Syndrome	Deeply set eye	ORPHA:71276
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Deep philtrum...	OMIM:150230
Megalencephaly	Deeply set eye, Short neck, Genu valgum	ORPHA:2477
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypertelorism, Telecanthus, Deeply set eye, Micrognathia	ORPHA:2575
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Hypertelorism, Cleft lip, Kyphosis, Cleft palate, Hypotelorism, Upslanted palpebral...	OMIM:619123
Leber Congenital Amaurosis 8	Keratoconus, Deeply set eye, Cataract	OMIM:613835
Cdags Syndrome	Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Cleft palate, S...	OMIM:603116
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Growth delay, Tooth abscess	ORPHA:89937
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Micrognathia, Postnatal growth retardation, Hip dysplasia, Astigmatism, Scoliosis, Pe...	ORPHA:494344
Holoprosencephaly	Short neck, Deep philtrum, Synophrys, Abnormal form of the vertebral bodies, Hypotelorism, Deeply...	ORPHA:2162
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Telecanthus, Dental crowding, Short stature, Micrognathia, Sho...	OMIM:130720
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Cataract, Broad hallux, Dental crowding, Short stature, Avascular necr...	ORPHA:353281
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Proportionate short stature, Micrognathia, Hypertelorism, Growth delay, Macroglossia,...	OMIM:613457
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation	OMIM:619751
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Sandal gap, Broad hallux, Short stature, Short neck, Postnatal growth ret...	OMIM:614800
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scol...	ORPHA:2181
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp...	OMIM:151210
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Smooth philtrum, Congenital hip dislocation, Delayed eruption of t...	OMIM:278250
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Short stature, Micrognathia, Joint stiffness, Contractu...	OMIM:607015
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor...	OMIM:263750
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo...	ORPHA:3003
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downt...	ORPHA:280
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Fai...	ORPHA:3238
Bangstad Syndrome	Short stature, Abnormality of the dentition, Deviation of finger, Deeply set eye, Intrauterine gr...	ORPHA:1227
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Hemivertebrae, Downturned corners of mouth, Widely spaced te...	OMIM:156200
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Carious teeth, Wide anterior fontanel, High palate, Scoliosis, Narrow...	OMIM:219200
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Deeply set eye, Recurrent aphthous stomatitis, Long philtrum, Overlappi...	OMIM:615966
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Short metacarpal, Epicanthus, Dental crowding, Sacral dimple, Short stature, Short neck, ...	OMIM:617157
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Kyphosis, Growth ...	ORPHA:261144
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, High palate, Clinodac...	ORPHA:96148
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Pontocerebellar Hypoplasia, Type 6	Deeply set eye, Elbow contracture, Narrow palate	OMIM:611523
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Entropion, Overlapping toe, Dental crowding, Kyphoscoliosis,...	OMIM:617402
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Iris hypopigmentation, Syndactyly, Short sta...	OMIM:176270
Warburg Micro Syndrome 3	Cataract, Kyphoscoliosis, Micrognathia, Blepharophimosis, Postnatal growth retardation, Flexion c...	OMIM:614222
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Unilateral ptosis, Dental crowding, Synophrys, High palate, Short philtrum...	ORPHA:3063
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Marfan Syndrome	Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, Hypoplasia of the iris, De...	OMIM:154700
Faundes-Banka Syndrome	Thin upper lip vermilion, Broad eyebrow, Epicanthus, Micrognathia, Hypertelorism, Cleft palate, H...	OMIM:619376
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Cataract, Short stature, Femoral retroversion, Hypertelorism, Kyphosis, Oro...	ORPHA:79107
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Masa Syndrome	Kyphosis, Hyperlordosis, Short stature, Adducted thumb	OMIM:303350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Wide mouth, Joint hyperflexibility, Deeply set eye, Hand polyd...	ORPHA:60040
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Deeply set eye, Flexion contracture	OMIM:612138
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Hypoplasia ...	ORPHA:920
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Pachydermoperiostosis	Ptosis, Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small hand, Clubbing of toes, ...	ORPHA:2796
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Congenital Disorder Of Glycosylation, Type Iif	Deeply set eye, Clinodactyly, Short philtrum, Hypotelorism	OMIM:603585
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Arachnodactyly, Micrognathia, Ectopia lentis, Long fingers, High, narrow ...	ORPHA:284979
Pelger-Huet Anomaly	Abnormality of the dentition, Hypertelorism, Kyphosis, Upper limb undergrowth, Gingival overgrowt...	OMIM:169400
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas...	ORPHA:2457
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, K...	OMIM:118650
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Dental crowding, Corneal opacity, Cleft upper li...	OMIM:219000
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing...	OMIM:610682
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Synophrys, Long eyelashes, Deeply set eye	OMIM:619064
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cataract, Hypertelorism, Cleft lip, Synophrys, Dental malocclusion, L...	OMIM:603457
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Abnormal oral mu...	ORPHA:2673
Webb-Dattani Syndrome	Short stature, Deep philtrum, Hip dislocation, Deeply set eye, Retrognathia	OMIM:615926
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal a...	OMIM:609128
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, High, narrow palate, Kyphosis, Split hand, Scoliosis	OMIM:618124
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Thick eyebrow, Kyphoscoliosis, Proportionate short stature, Hypertelorism,...	ORPHA:404443
Cranioectodermal Dysplasia 3	Joint laxity, Telecanthus, Sandal gap, Short stature, Postaxial polydactyly, Sagittal craniosynos...	OMIM:614099
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Buphthalmos, High palate, Intrauterin...	OMIM:618005
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Short stature, Craniosynostosis, Hyper...	OMIM:618050
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, High palate, Camptodactyly, Int...	OMIM:614846
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Genu ...	OMIM:618493
1Q41Q42 Microdeletion Syndrome	Short stature, Submucous cleft hard palate, Abnormality iris morphology, Cleft palate, Hypotelori...	ORPHA:250999
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Kyphosis, Wide mouth, Upslanted...	ORPHA:261250
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Epicanthus, P...	OMIM:614091
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Abnormality of the dentition, Osteoarthritis, Limitation of joint mobili...	ORPHA:285
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Hypotelorism, Tr...	OMIM:604757
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Epicanthus, Overlapping toe, Short stature, Bi...	OMIM:619557
Cowden Syndrome 5	Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio...	OMIM:615108
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Spinal canal stenosi...	ORPHA:1724
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300009
2P15P16.1 Microdeletion Syndrome	High palate, Tapered finger, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia, Smooth philtr...	ORPHA:261349
Koolen-De Vries Syndrome	Hypotelorism, High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, ...	OMIM:610443
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, C...	OMIM:305100
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar...	OMIM:253200
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Split hand,...	OMIM:309900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Deeply set eye, Scoliosis	OMIM:614254
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Postnatal growth retardation, Flexion contracture, Developmental catar...	OMIM:614225
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft maxillary alveolar ridge, Finge...	ORPHA:508488
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Deep philtrum, Synophrys, Gingival overgrowth, Macroglossia,...	OMIM:616455
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Malar flattening, Downslanted palpebral fi...	OMIM:122880
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Absent cupid's bow, Synophrys, Deeply set eye, Astigmatism, Downslanted palpebral fissures, Short...	ORPHA:284169
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Hypert...	ORPHA:2919
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Downturned corners of mouth, Hypoplastic vertebral bodies, Deeply set eye,...	ORPHA:3455
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Sh...	OMIM:258480
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Hypotelorism, Clinodactyly of the 5th finger, Microdontia, Joint...	OMIM:194050
Autosomal Dominant Robinow Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Medial flaring of the eyebrow, Broad eyebrow, Short stature, Proximal placement ...	OMIM:620113
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ...	OMIM:300963
Cowden Syndrome 6	Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio...	OMIM:615109
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, E...	OMIM:312870
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Joint laxi...	ORPHA:488642
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Cataract, Short stature, Kyphosis, Syn...	ORPHA:3042
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Cataract, Kyphosis, Ptosis	ORPHA:1875
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Abno...	ORPHA:286
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide anterior fontanel, Cl...	OMIM:617925
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Micrognathia, Microcornea, High palate, Clinodactyly of the 5th finge...	OMIM:244450
Xfe Progeroid Syndrome	Severe short stature, Corneal scarring, Deeply set eye, Scoliosis, Premature loss of teeth, Ename...	OMIM:610965
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Hype...	OMIM:613795
Catel-Manzke Syndrome	Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula,...	OMIM:616145
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Telecanthus, Peters anomaly, Hypertelorism, Synophrys, Deeply set eye, ...	OMIM:618929
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Mend Syndrome	Telecanthus, Sacral dimple, Overlapping toe, Broad hallux, Cataract, Micrognathia, Asymmetry of t...	ORPHA:401973
Xeroderma Pigmentosum, Complementation Group F	Short stature, Flexion contracture, Deeply set eye, Astigmatism, Scoliosis	OMIM:278760
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Craniosynostosis, Postaxial polydactyly, Sparse eyebrow, Postnatal ...	OMIM:605627
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Protruding tongue, Gingival overgrowth, Wide mouth, Deeply set eye, Horizontal eyebrow,...	OMIM:618797
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Mandibular prognathia, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, Hyp...	OMIM:617011
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Deeply set eye, Humeral pseudarthrosis, Oligodontia, Short...	ORPHA:2044
Geleophysic Dysplasia 1	Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor...	OMIM:231050
Developmental And Epileptic Encephalopathy 84	Smooth philtrum, Epicanthus, Synophrys, Thick lower lip vermilion, Deeply set eye, Blepharophimos...	OMIM:618792
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Carious teeth, Short thumb, Partial duplication of thumb pha...	OMIM:620193
Laron Syndrome	Delayed menarche, Short long bone, Severe short stature	OMIM:262500
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617404
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multiple enchondromatosis, Hammertoe, Deeply set eye, Micrognathia	OMIM:620189
Kleefstra Syndrome 2	Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula, Thick eyebrow	OMIM:617768
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Down-slopi...	OMIM:109400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Microd...	OMIM:129900
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi...	ORPHA:1860
Poikiloderma With Neutropenia	Joint laxity, Short stature, Micrognathia, Carious teeth, Joint stiffness, Sparse eyebrow, Hypert...	OMIM:604173
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth...	OMIM:194190
Johnson Neuroectodermal Syndrome	Absent eyebrow, Severe short stature, Carious teeth, Preaxial hand polydactyly, Absent eyelashes,...	ORPHA:2316
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Hypotelorism, Deeply set eye, High palate, Joint laxity, Short stature, ...	OMIM:619325
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Hypoplasi...	ORPHA:558
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Calvarial hyperostosis, Carious teeth	OMIM:612714
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Sparse eyelashes, Cleft upper ...	OMIM:604292
Cerebrocostomandibular Syndrome	Short humerus, Epicanthus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft...	OMIM:117650
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissure, Deeply set eye...	ORPHA:3241
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Hypertelorism, Absent eyelashes, Ank...	OMIM:275210
Spondyloocular Syndrome	Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of t...	OMIM:605822
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Epicanthus, Hypertelorism, Kyphosis, Upslanted palpebral fissure, Intrauterine...	OMIM:619909
Skin Creases, Congenital Symmetric Circumferential, 2	Micrognathia, Short neck, Synophrys, Microcornea, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Sialidosis Type 2	Short stature, Corneal opacity, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Cataract, Short neck, ...	ORPHA:77301
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Hypertelorism, Kyphosis, Delayed puberty, Osteopor...	ORPHA:97685
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium	ORPHA:220393
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Epicanthus, Cataract, Hypertelorism, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin...	ORPHA:500095
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Corneodermatoosseous Syndrome	Severe short stature, Abnormal dental enamel morphology, Corneal dystrophy, Carious teeth, Abnorm...	ORPHA:3194
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Anisocoria, Deeply set eye, Short philtrum, Hig...	OMIM:613406
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Abnormal eyelid morphology, Short neck, Deep philtrum, ...	OMIM:300855
Tetrasomy 5P	Epicanthus, Overlapping toe, Short hallux, Micrognathia, Short neck, Long fingers, Wide anterior ...	ORPHA:3309
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Carious teeth, Sparse eyebrow, Keratitis, Conjunctivitis, Enamel hypo...	OMIM:612843
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda...	OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Hypotelorism, Deeply set eye, Short philtrum	OMIM:300486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Deeply set eye, Peters anomaly, Retrognathia, Adducted thumb	OMIM:614643
Odontoonychodermal Dysplasia	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel...	OMIM:257980
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,...	OMIM:184253
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Pro...	ORPHA:93274
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn...	ORPHA:3472
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Cataract, Short stature, Cleft soft palate, Tapered finger, Abnorma...	ORPHA:268261
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Short stature, Kyp...	ORPHA:2834
Chand Syndrome	Short fifth metatarsal, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon...	ORPHA:1401
1P21.3 Microdeletion Syndrome	Micrognathia, Wide mouth, Upslanted palpebral fissure, Deeply set eye, Astigmatism, Joint hypermo...	ORPHA:293948
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Hypertelorism, Dental malocc...	ORPHA:2052
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Micrognathia, Ab...	ORPHA:2108
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short stature, Severe postnatal growth retardation, Macroglossia, Deeply set eye, Malar flattening	OMIM:613038
Tetrasomy 9P	Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, Deeply set eye, High pala...	ORPHA:3310
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Deeply set eye	OMIM:618158
Cowden Syndrome 1	Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio...	OMIM:158350
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Short stature, Tooth malposition, Hypotelorism, Deeply set eye, Disproportionate short-...	OMIM:616541
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Hypotelorism, Microcornea, Conjunct...	ORPHA:33364
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Hypotonia, Ataxia, And Delayed Development Syndrome	Thin upper lip vermilion, Thick eyebrow, Short stature, Tapered finger, Hypertelorism, Deep philt...	OMIM:617330
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Sclerocornea, Abnormal form of the vertebr...	ORPHA:818
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Deeply set eye, Short phil...	ORPHA:500150
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co...	ORPHA:69087
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn...	ORPHA:392
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Epicanthus, Overlapping toe, Exaggerated cupid's bow, Postnatal growth re...	ORPHA:254528
Dubowitz Syndrome	Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly of the 5th finger, Megalocornea, ...	OMIM:223370
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle...	OMIM:618484
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Abnormality of dental color, Short stature, Aplasia/Hypoplasia of th...	ORPHA:1006
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
Lowe Oculocerebrorenal Syndrome	Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Hip...	OMIM:309000
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco...	ORPHA:1946
Noonan Syndrome 14	Epicanthus, Lacrimal duct stenosis, Short stature, Short neck, Sparse eyebrow, High, narrow palat...	OMIM:619745
Cockayne Syndrome Type 3	Cataract, Mild postnatal growth retardation, Carious teeth, Kyphosis, Flexion contracture, Microc...	ORPHA:90324
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis,...	OMIM:259770
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge...	ORPHA:2311
Developmental And Epileptic Encephalopathy 2	Tapered finger, Thick lower lip vermilion, Small hand, Short foot, Deeply set eye, Scoliosis	OMIM:300672
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Deeply set eye, Broad hallux, Broad thumb	OMIM:614388
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Short stature, Hypertelorism, Carious teeth, Postnatal growth retarda...	ORPHA:357074
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet...	OMIM:615873
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Hypert...	ORPHA:457359
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Marinesco-Sjogren Syndrome	Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Dev...	OMIM:248800
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal...	ORPHA:198
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Arachnodactyly, Scoliosis, Narr...	ORPHA:2461
Micro Syndrome	Cataract, Short stature, Micrognathia, Joint stiffness, Kyphosis, Microcornea, High palate, Short...	ORPHA:2510
Mend Syndrome	Microretrognathia, Sacral dimple, Cataract, Overlapping toe, Broad hallux, Short stature, Microgn...	OMIM:300960
Atelis Syndrome 2	Epicanthus, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Developme...	OMIM:620185
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly	ORPHA:3085
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye	ORPHA:3044
Congenital Disorder Of Glycosylation, Type Il	Short neck, Hypertelorism, Kyphosis, Hip dislocation, Wide mouth, Long philtrum	OMIM:608776
Tooth Agenesis, Selective, 4	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ...	OMIM:150400
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo...	OMIM:180500
Fibromuscular Dysplasia, Multifocal	Dental crowding, Micrognathia, Deeply set eye, High palate, Scoliosis, Malar flattening, Downslan...	OMIM:619329
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Epicanthus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ky...	ORPHA:536545
Aymé-Gripp Syndrome	Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Short stature, Tapered...	ORPHA:1272
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Thrombocytopenia 6	Myelofibrosis, Deeply set eye, Osteoporosis, Hypotelorism	OMIM:616937
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Acro-Renal-Ocular Syndrome	Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Iris coloboma, Hypoplasia of the...	ORPHA:959
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Ham...	OMIM:269860
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Barth Syndrome	Mandibular prognathia, Deeply set eye, Growth delay	OMIM:302060
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton...	OMIM:613091
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Dental crowding, Delayed eruption of primary teeth, Growth delay, Deeply set eye, ...	OMIM:617799
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Small hand, Cleft palate, Hip dys...	ORPHA:50
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Post...	OMIM:617088
Mgat2-Cdg	Osteopenia, Dental crowding, Hypertelorism, Kyphosis, Long eyelashes, Scoliosis, Open mouth, Down...	ORPHA:79329
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Hypotelorism, Short philtrum, High palate, Clino...	OMIM:135900
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosis, Increased femoral anteversion, Hi...	OMIM:619005
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Corneal opacity, Postnatal growth retardation, Hip disl...	OMIM:616603
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Intrauterine growth retardation	OMIM:618237
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Ge...	OMIM:615630
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Telecanthus, Rhizomelia, Micrognathia, Short neck, W...	ORPHA:79328
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Hypertelorism,...	ORPHA:363700
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Intellectual Developmental Disorder, Autosomal Recessive 71	Deeply set eye, Increased overbite	OMIM:618504
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Upslanted palpebral fissure, Pr...	ORPHA:1790
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced ...	ORPHA:2728
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse eyelashes, Carious teeth, Osteoporosis, Nasolacrimal duct obstruction, Microdontia, Pteryg...	OMIM:224230
Classic Homocystinuria	Cataract, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffness, Ectopia lentis, ...	ORPHA:394
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Shallow orbits, Short...	OMIM:619127
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Cataract, Osteomalacia, Recurrent fractu...	ORPHA:1652
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Toe syn...	OMIM:200980
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Orofacial cleft, Deeply set eye, High palate, Clinodactyly of the 5th finger, Bifid uv...	OMIM:607872
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Block vertebrae, Proximal placement of thumb, Cleft upper...	OMIM:304050
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Epicanthus, Hypertelorism, Synophrys, Downturned corners of mouth, Wide...	ORPHA:466943
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Iris colob...	OMIM:113620
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Alg12-Cdg	Thin upper lip vermilion, Epicanthus, Sandal gap, Proximal placement of thumb, Micrognathia, Long...	ORPHA:79324
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna...	ORPHA:521426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Epicanthus, Hypertelorism, Synophrys, Wide mouth, Deeply set eye, Long ...	ORPHA:466950
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Mucolipidosis Type Ii	Hip contracture, Epicanthus, Short stature, Craniosynostosis, Limited wrist movement, Postnatal g...	ORPHA:576
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Erythrodontia, Short stature, Loss of eyelashes, Osteolysis, Corneal ...	OMIM:263700
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia,...	OMIM:216340
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co...	ORPHA:477
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
Lelis Syndrome	Mandibular prognathia, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebra...	ORPHA:140936
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Deeply set eye	ORPHA:521390
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Deeply set...	OMIM:619475
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth reta...	OMIM:613563
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Birt...	ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Corneal opacity, Shor...	ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Micrognathia, Hypertelorism, Narrow palpebral fissu...	OMIM:614437
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis, Short stature	OMIM:242150
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers...	OMIM:617527
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Hypertelorism, Kyphosis, Cone-shaped epiphyses o...	ORPHA:420794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy...	OMIM:269150
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Deeply set eye, Astigmatism, Dental crowding, Short philtrum	OMIM:617296
Thauvin-Robinet-Faivre Syndrome	Epicanthus, Bowing of the legs, Hypertelorism, Macroglossia, Deeply set eye, Thick vermilion bord...	OMIM:617107
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Sparse eyelashes, Abnormal...	ORPHA:1071
Bloom Syndrome	Syndactyly, Postnatal growth retardation, Agenesis of maxillary lateral incisor, Growth delay, Ha...	OMIM:210900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Short stature, Rickets, Reduced bone mineral density, Growth delay, Hyp...	OMIM:613658
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Abnormal eyebrow morphology, Lumbar hyperlordosis, Sparse e...	ORPHA:2232
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Calcaneoval...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Distal Deletion 15Q	Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Finger clinodactyly, Short ...	ORPHA:1596
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Short stature, Almond-shaped palpebral fissure, Kyphosis, F...	ORPHA:398069
Kagami-Ogata Syndrome	Pursed lips, Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Postnatal growth retardation, ...	ORPHA:254519
Kilquist Syndrome	Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth	OMIM:619080
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate...	OMIM:268300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm...	ORPHA:2273
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Cleft soft palate, Short stature, Flexion contracture, Genu valgum, Downtur...	OMIM:619321
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Cataract, Short stature, Camptodactyly of finger, Joint ...	ORPHA:1606
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, G...	ORPHA:77259
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Short stature, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand,...	OMIM:130050
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ...	OMIM:619479
Cerebrocostomandibular Syndrome	Short stature, Tracheomalacia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly o...	ORPHA:1393
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Epicanthus, Growth delay, Deeply set eye, High palate, Joint hypermobility	OMIM:619418
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:881
Viss Syndrome	Micrognathia, High, narrow palate, Generalized joint laxity, Deeply set eye, High palate, Broad u...	OMIM:619472
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,...	OMIM:304150
Shwachman-Diamond Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Sinusitis, Short stature, Carious teeth, Me...	ORPHA:811
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Long palpebral fis...	OMIM:603387
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia, Flared iliac wing, Short long bo...	ORPHA:79255
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, High, narrow palate, Narrow mouth, ...	OMIM:300967
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda...	ORPHA:744
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Short stature, Short neck, Hypertelorism, Cleft lip, Kyphosis, Hemivertebrae, Narrow ...	OMIM:618223
Rett Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis	OMIM:312750
Atypical Rett Syndrome	Kyphosis, Small hand, Short foot, Growth delay, Scoliosis	ORPHA:3095
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Corneal ulceration, Conjunctivi...	OMIM:153400
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral density, C...	ORPHA:138
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Cataract, Kyphoscoliosis, Hypertelorism, Hip dislocation, Hip dysplasia, Camptodactyly...	OMIM:617403
Gm1-Gangliosidosis, Type I	Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypertelorism, Gingival overgrowth, ...	OMIM:230500
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr...	ORPHA:2911
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, P...	ORPHA:2908
Sialidosis Type 1	Cataract, Corneal opacity, Short stature, Kyphosis, Thick lower lip vermilion, Abnormal form of t...	ORPHA:812
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly	OMIM:181405
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Deeply set eye, Long philtrum	ORPHA:314647
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Prominent finger...	OMIM:309800
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Kyphosis	ORPHA:319199
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Axenfel...	OMIM:266270
Sandhoff Disease	Kyphosis	ORPHA:796
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of...	OMIM:164210
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Growth delay, Proptosis, Osteopetrosis	OMIM:612301
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Narrow mouth	ORPHA:261222
Stormorken Syndrome	Deeply set eye, Short philtrum, Short stature, Hypotelorism	OMIM:185070
Jaberi-Elahi Syndrome	Cataract, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Scoliosis, Triangular mout...	OMIM:617988
Mowat-Wilson Syndrome	Delayed eruption of teeth, Cataract, Short stature, Hypertelorism, Submucous cleft hard palate, C...	OMIM:235730
Acromegaly	Mandibular prognathia, Broad jaw, Palpebral edema, Macrodactyly, Tapered finger, Abnormality of t...	ORPHA:963
Alagille Syndrome 1	Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Hypertelorism, Hemiver...	OMIM:118450
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Palpebral edema, Macrodactyly, Tapered finger, Abnormality of t...	ORPHA:314769
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Stormorken-Sjaastad-Langslet Syndrome	Deeply set eye, Short stature	ORPHA:3204
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, High, narrow palate, Kyphosis, Thick lower lip vermilion, High palat...	OMIM:162300
Koolen-De Vries Syndrome Due To A Point Mutation	Calcaneovalgus deformity, Prominent fingertip pads, Joint laxity, Arachnodactyly, Abnormal dental...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Calcaneovalgus deformity, Prominent fingertip pads, Joint laxity, Arachnodactyly, Abnormal dental...	ORPHA:363958
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Overlapping fingers, Absent uvula	OMIM:619708
Becker Nevus Syndrome	Kyphosis, Abnormal tibia morphology, Spina bifida occulta, Scoliosis	ORPHA:64755
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Kyphosis, Genu varum, Scoliosis, Short hard palate, Ptosis	ORPHA:1969
Srd5A3-Cdg	Kyphosis, Oligodontia, Cataract, Abnormal sacrum morphology	ORPHA:324737
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis, Ptosis	OMIM:610743
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Alstrom Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Gingivitis, Hyperostosis frontalis interna...	OMIM:203800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Short stature, Deeply set eye, Hypertelorism	ORPHA:423479
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Epicanthus, Broad hallux, Thoracic scoliosis, Short statur...	OMIM:620186
Kabuki Syndrome 1	Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pads, Abnormal vertebr...	OMIM:147920
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Pelizaeus-Merzbacher Disease In Female Carriers	Growth delay, Deeply set eye, Hypertelorism	ORPHA:280229
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Overlapping toe, Arachnodactyly, Micrognathia, Postnatal growth retardation, Contract...	ORPHA:83617
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Short stature, Submucous cleft hard palate, Flexion contracture, Deeply set eye, Delayed puberty,...	OMIM:618891
Peters Plus Syndrome	Micrognathia, Short neck, Microcornea, Widely spaced teeth, Clinodactyly of the 5th finger, Spina...	ORPHA:709
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb...	ORPHA:98863
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Neurofibromatosis Type 1	Cataract, Corneal opacity, Recurrent fractures, Short stature, Joint stiffness, Abnormal eyelid m...	ORPHA:636
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Cataract, Scoliosis	OMIM:614409
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Cataract, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Spastic Paraplegia 53, Autosomal Recessive	Joint hyperflexibility, Kyphosis	OMIM:614898
Intellectual Developmental Disorder, Autosomal Dominant 38	Epicanthus, Tented upper lip vermilion, Downturned corners of mouth, Deeply set eye, High palate,...	OMIM:616393
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora...	ORPHA:3404
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Wide anterior fontanel, Kyphosis, Disprop...	OMIM:616482
Cowden Syndrome	Cataract, Short stature, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Scolios...	ORPHA:201
Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98853
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Short stature, Tapered ...	OMIM:619522
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Kyphosis, High palat...	OMIM:619244
D-Glyceric Aciduria	Growth delay, Deeply set eye	OMIM:220120
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Ptosis	OMIM:615084
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Exudative Vitreoretinopathy 2, X-Linked	Deeply set eye, Shallow anterior chamber	OMIM:305390
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98855
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis, Ptosis	ORPHA:58
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Hype...	OMIM:610828
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Ptosis	ORPHA:352447
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Hypertelorism, Cleft lip, Cleft palate, Deeply set eye, Retrognathia, Butterfly ver...	OMIM:265380
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Cle...	OMIM:263520
Fucosidosis	Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae, Abnormality of the dentition	ORPHA:349
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture	OMIM:212065
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis, Ptosis	OMIM:211530
Postencephalitic Parkinsonism	Bilateral ptosis, Open mouth, Camptocormia, Kyphosis	ORPHA:97349
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Ptosis	OMIM:617143
Aspartylglucosaminuria	Joint laxity, Cataract, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick lower lip ver...	OMIM:208400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Short stature, Postaxial polydactyly, Hypertelorism, Broad first metatars...	OMIM:619534
Holoprosencephaly 2	Aplasia of the premaxilla, Cyclopia, Submucous cleft hard palate, Absent nasal septal cartilage, ...	OMIM:157170
Pelizaeus-Merzbacher Disease	Kyphosis, Short stature, Scoliosis, Joint stiffness	ORPHA:702
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Kyphosis, Blepharospasm, Scoliosis	OMIM:128100
Microcephaly 29, Primary, Autosomal Recessive	Deeply set eye, Thick eyebrow, Hypoplastic philtrum	OMIM:620047
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Absent lacrimal punctum, Lacrimal gland aplasia, Lacrimal gland hypoplasia	OMIM:180920
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Cataract, Ankle flexion contracture, Cran...	ORPHA:821
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth	OMIM:300942
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Cataract, Short stature, Kyphosis, Short toe, Po...	ORPHA:64
Cholera	Deeply set eye	ORPHA:173
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Kyphosis, High palate, Scoliosis	OMIM:177850
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis, Ptosis	ORPHA:88644
Shprintzen Omphalocele Syndrome	Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis	OMIM:182210
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Kyphosis, Scoliosis	OMIM:613454
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Astigmatism, Scoliosis	OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629

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 Slc39a13

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 Slc39a13.

No publications found that use IMPC mice or data for Slc39a13.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc39a13^em1(IMPC)H	Indel	Mice
Slc39a13^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc39a13^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us