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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte... OMIM:612350
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Propto... ORPHA:157965

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco... ORPHA:2501
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte... OMIM:612350
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Jo... ORPHA:1515
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Pyle Disease
Limited elbow extension, Genu valgum, Reduced bone mineral density, Delayed eruption of teeth, Ma... OMIM:265900
Alpha-Mannosidosis
Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Arthritis, Gingival overgrowth, Op... ORPHA:61
Craniosynostosis 3
Right unicoronal synostosis, Dental malocclusion, Bicoronal synostosis, Ptosis, Brachydactyly, Le... OMIM:615314
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Brittle Cornea Syndrome 1
Spondylolisthesis, Keratoglobus, Keratoconus, Scoliosis, Decreased corneal thickness, Congenital ... OMIM:229200
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,... ORPHA:1858
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Abnormality of the dentition, Hypoplasia of the maxilla, Short stature, Short distal p... ORPHA:2776
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Recurrent fractures, Scoliosis, Bowing of the long bones, Thickened cortex... ORPHA:53697
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures... ORPHA:210110
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Dental malocclusion, Synophrys, Short stature, Hallux valgus, Deeply set eye OMIM:615541
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Highly ar... OMIM:613684
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Long fingers, Downslanted palpebral fissures, Epicanthus, Den... OMIM:618292
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Mulibrey Nanism
Astigmatism, Thickened cortex of long bones, Absent frontal sinuses, Dental crowding, Corneal dys... OMIM:253250
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Mandibular p... ORPHA:3416
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Sparse eyebrow, Brachydactyly, Epicanthus, Joint hypermobility, Dental maloc... OMIM:619692
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition ORPHA:1094
Trichodentoosseous Syndrome
Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... OMIM:234250
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Abnormality of globe location, Postnatal growth retardation, Clinodactyly of the 5th ... ORPHA:576283
Ck Syndrome
Retrognathia, Abnormal cortical bone morphology, Dental crowding, Scoliosis, Hyperlordosis, High ... OMIM:300831
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor... ORPHA:137834
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H... ORPHA:3079
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Persistent pupill... OMIM:257850
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Short distal phalanx of finger, Int... ORPHA:1327
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ... ORPHA:3152
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Blepharophimosis, Kyphosis, Dental malocclusion... OMIM:141300
Microtriplication 11Q24.1
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Keratoconus, Scoliosis, Limitation o... ORPHA:289522
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Blepharophimosis, Exaggerated cupid's bow, High palate, Everted lower lip ... ORPHA:261120
Mcdonough Syndrome
Abnormal palate morphology, Short palpebral fissure, Short philtrum, Mandibular prognathia, Open ... ORPHA:2471
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Hypotelorism, Scoliosis, Incisor macrodontia, Congenital hip dislocation... OMIM:619719
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Scoliosis, Prominent median palatal raphe, Exaggerated me... OMIM:300602
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Patchy distortion of vertebrae, Vertebral cl... OMIM:155050
Dysostosis, Stanescu Type
Hyperlordosis, Proptosis, Kyphosis, Tooth agenesis, Massively thickened long bone cortices, Abnor... ORPHA:1798
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Joint hypermobility, Coxa valga, ... OMIM:618363
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Warburg Micro Syndrome 1
Kyphoscoliosis, Thin vermilion border, Microcornea, Narrow mouth, Osteoporosis, Short stature, Pt... OMIM:600118
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Genu valgum, Moderate intrauterine growth retardation, Hypoplasia of the tooth g... ORPHA:293967
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Pierpont Syndrome
Narrow palpebral fissure, Thin vermilion border, Short finger, Widely spaced teeth, Telecanthus, ... ORPHA:487825
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Metaphyseal striations, Hypoplasia of the maxilla, Short stature, Slende... OMIM:608154
Monosomy 5P
Finger syndactyly, Abnormality of bone mineral density, Scoliosis, High palate, Intrauterine grow... ORPHA:281
Trichorhinophalangeal Syndrome, Type I
Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ... OMIM:190350
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Proptosis, Broad thumb, Wide mouth, Short distal phalanx of fing... OMIM:616331
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr... OMIM:619795
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Serrate... OMIM:272440
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Pierpont Syndrome
Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Short finger, Scoliosis, S... OMIM:602342
Zimmermann-Laband Syndrome
Overtubulated long bones, Bifid uvula, Wide mouth, Joint hypermobility, Downslanted palpebral fis... ORPHA:3473
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Blepharophimosis, Keratoconus, Scoliosis, Absent phalangeal crease, Hi... OMIM:108145
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Cornelia De Lange Syndrome 5
Retrognathia, Proximal placement of thumb, Highly arched eyebrow, Long philtrum, Short stature, C... OMIM:300882
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Momo Syndrome
Abnormal bone ossification, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing,... ORPHA:2563
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Stickler Syndrome Type 1
Platyspondyly, Abnormal vertebral epiphysis morphology, Proptosis, Abnormal epiphysis morphology,... ORPHA:90653
48,Xxyy Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja... ORPHA:10
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Microdontia, Wide mouth, Short distal phalanx of finger, Joint hypermobili... OMIM:619293
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Scoliosis, Corneal dystrophy, Decreased corneal thickness, Abnorma... ORPHA:90354
Chung-Jansen Syndrome
Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum, High palate, Synophrys, Mi... OMIM:617991
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Juvenile cataract, Upslanted palpebral fissure, Short stature, Micrognathia, Downslanted palpebra... ORPHA:436245
Chromosome 20Q11-Q12 Deletion Syndrome
Short philtrum, Tarsal osteovalgus, Camptodactyly, Brachydactyly, Intrauterine growth retardation... OMIM:614257
Van Maldergem Syndrome 1
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Camptodactyly,... OMIM:601390
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist ... OMIM:259600
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4... OMIM:608545
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Harrod Syndrome
Abnormal shoulder morphology, Hypotelorism, Scoliosis, Narrow mouth, High palate, Abnormal pelvic... ORPHA:2115
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Central posterior corneal opacity, Keratoconus, Limited elbow ext... OMIM:244600
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Corneal opacity, Broad metacarpals, Kyphosis, Generalized... OMIM:277950
Wilson-Turner Syndrome
Tapered finger, Short foot, Short stature, Micrognathia, Thick eyebrow, Small hand, Deeply set ey... ORPHA:3459
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Talon cusp, Microdo... OMIM:605282
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Postnatal growth retardation, Prominent protruding coccyx, High palate, Long eyelashes, Abnormal ... ORPHA:480907
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Iris coloboma, Delayed eruption of teeth, Periodonti... ORPHA:2791
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplas... ORPHA:397973
Aarskog-Scott Syndrome
Everted lower lip vermilion, Long philtrum, Joint hypermobility, Abnormality of the dentition, Sh... ORPHA:915
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Clinodactyly of the 5th finger, Spondylolisthesis, Sandal gap, Spina bifida occulta, ... OMIM:617877
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Corneal opacity, Proptosis, Hypoplasia of t... OMIM:166300
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
20Q11.2 Microdeletion Syndrome
Short philtrum, Camptodactyly, Brachydactyly, Intrauterine growth retardation, Adducted thumb, De... ORPHA:444051
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Obtuse angle of mandi... ORPHA:85184
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Hypotelorism, Rhizomelia, Flared metaphysis... OMIM:602471
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Thick lower lip vermilion, Highly arched eyebrow, Narrow mouth, Short stature, Car... ORPHA:457365
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dislocated radial head, Steep ace... OMIM:610758
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Intrauterine growth retar... ORPHA:439822
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Narrow palpebral fissure, Short palpebral fissure, Hypotelorism, High palate, Glossoptosis, Campt... OMIM:613604
Geroderma Osteodysplasticum
Kyphoscoliosis, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Severe short stature, ... OMIM:231070
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Cdkl5-Deficiency Disorder
Scoliosis, Everted lower lip vermilion, Kyphosis, Synophrys, Growth delay, Thick vermilion border... ORPHA:505652
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp... OMIM:112350
Frank-Ter Haar Syndrome
Kyphoscoliosis, Developmental glaucoma, Broad alveolar ridges, Short long bone, Proptosis, Kyphos... OMIM:249420
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Short stature, Malar flattening, Cataract, Dental malocclusion, Upslanted pa... OMIM:616108
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Short philtrum, High palate, Short stature, Downturned corners of mouth, Downslanted palpebral fi... ORPHA:85280
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Tibial bowing, Short metacarpal, C... OMIM:608940
Rhyns Syndrome
Osteopenia, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Ptosis, Abnormal ac... ORPHA:140976
Acrootoocular Syndrome
Kyphoscoliosis, Sandal gap, Short metacarpal, Prominent calcaneus, Anodontia, Short finger, Short... ORPHA:2980
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Short fourth m... OMIM:615546
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short long bone, Hyperlordosis, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip... OMIM:616007
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow f... OMIM:616809
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Kyphoscoliosis, Second metatarsal posteriorly placed, ... OMIM:214150
Trisomy 4P
Abnormal palate morphology, Radial club hand, Scoliosis, Abnormality of the dentition, Short stat... ORPHA:1738
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's... ORPHA:2662
Cranioectodermal Dysplasia 4
Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Short stature, ... OMIM:614378
Faciocardiomelic Syndrome
Polydactyly, Osteopenia, Telecanthus, Slender long bone, Cuboid-shaped vertebral bodies, Hypoplas... OMIM:612731
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Mandibular prognathia, Scoliosis, Everted lower lip vermilion, Kyphosis, Synophry... ORPHA:2429
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... ORPHA:251028
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Scoliosis, Micrognathia, Wide mouth, Deeply set eye, Clinodactyly OMIM:300934
Three M Syndrome 2
Delayed eruption of teeth, Slender long bone, Hyperlordosis, High palate, Intrauterine growth ret... OMIM:612921
Jackson-Weiss Syndrome
Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ... ORPHA:1540
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Bilateral ptosis, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyl... OMIM:265000
Sclerosteosis 1
Tooth malposition, Mandibular prognathia, Proptosis, Abnormal pelvic girdle bone morphology, Devi... OMIM:269500
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Patholo... OMIM:102500
Progressive Hemifacial Atrophy
Heterochromia iridis, Ptosis, Micrognathia, Abnormal mandible morphology, Deeply set eye ORPHA:1214
Gapo Syndrome
Abnormal metaphysis morphology, Abnormal palate morphology, Palpebral edema, Delayed eruption of ... ORPHA:2067
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Alazami Syndrome
Narrow palpebral fissure, Short palpebral fissure, Postnatal growth retardation, Widely spaced te... ORPHA:319671
Chromosome Xq13 Duplication Syndrome
Limited elbow extension, Short palpebral fissure, Medial flaring of the eyebrow, Clinodactyly of ... OMIM:301069
48,Xxxy Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Blepharophimosis, Abnormal dental enam... ORPHA:96263
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Bowing of the long bone... ORPHA:2097
49,Xxxxy Syndrome
Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip dislocation, Taurodontia, Sco... ORPHA:96264
Fanconi Anemia, Complementation Group S
Narrow palate, Proximal placement of thumb, Blepharophimosis, Long eyelashes, Short stature, Thic... OMIM:617883
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, N... OMIM:611174
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Sacral dimple, Short philtrum, Foot joint c... ORPHA:166108
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, High palate... ORPHA:50814
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Kyphoscoliosis, Diaphyseal dysplasia, Osteoporosis, Epiphyseal dysplasia... OMIM:614727
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Short middle phalanx of the 5... ORPHA:63442
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Telecanthus, Severe postnatal growth retardation, Thoracic kyphoscoliosis, Short middle phalanx o... OMIM:203550
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Short stature, Lumbar sc... OMIM:620269
Short Syndrome
Radial deviation of finger, Astigmatism, Telecanthus, Delayed eruption of teeth, Slender long bon... OMIM:269880
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Limited elbow extension, Orofacial cleft, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Sco... ORPHA:502434
20P12.3 Microdeletion Syndrome
Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Downslanted palpebral fissures, Short statu... ORPHA:261295
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Mandibular prognathia, Open bite, Scoliosis, Microdontia, Tooth a... ORPHA:1248
Cohen Syndrome
Delayed puberty, High, narrow palate, Genu valgum, Short metatarsal, Short philtrum, Tapered fing... OMIM:216550
Borjeson-Forssman-Lehmann Syndrome
Narrow palpebral fissure, Cervical spinal canal stenosis, Delayed puberty, Shortening of all midd... OMIM:301900
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font... OMIM:620099
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... ORPHA:750
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Malar flattening, Deeply se... OMIM:615984
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve... OMIM:601957
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Short stature, E... ORPHA:79106
Desbuquois Dysplasia 1
Developmental glaucoma, Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Fla... OMIM:251450
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Delayed eruption of teeth... OMIM:619489
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Ptosis, Dental malocclusion, Arthrogryposis multiplex congenita OMIM:608931
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Abnormal palate morphology, Clinodactyly of the 5th finger, Scoliosis, Heterochromi... ORPHA:1390
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Clinodactyly, Tauro... ORPHA:2710
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Short stature, Dentinogenesis imperfecta... ORPHA:71267
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Long philtrum, Whistling appearance, Elbow flexion contracture, Camptodactyly, Ma... OMIM:277720
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Reduced bone mineral density, Clinodactyly... ORPHA:2370
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Proptosis, Kyphosis, Wide mouth, Intrauterine growth retardation, Short ph... OMIM:615834
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Platys... ORPHA:582
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Freeman-Sheldon Syndrome
Scoliosis, Narrow mouth, Abnormality of the dentition, Joint stiffness, Camptodactyly of finger, ... ORPHA:2053
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Hypochondroplasia
Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long... OMIM:146000
Craniofacial-Deafness-Hand Syndrome
Lacrimal duct atresia, Narrow mouth, Hypoplasia of the maxilla, Camptodactyly of finger, Downslan... ORPHA:1529
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Scoliosis, Tapered finger, Proxim... OMIM:616202
Myopathy, Myofibrillar, 8
Spinal rigidity, Joint contracture of the 5th finger, Distal joint hypermobility, Scoliosis, High... OMIM:617258
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, Wide anterior... OMIM:269300
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand... OMIM:108721
Short Syndrome
Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Telecanthus, Abnormal d... ORPHA:3163
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Megalocornea, Synophrys, Downturned corners of ... OMIM:618729
Trisomy 9P
Sacral dimple, Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper li... ORPHA:236
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Narrow palpebral fissure, Broad distal phalanx of finger, Astigmatism, Short philtrum, High palat... ORPHA:363686
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Postaxial hand polydactyly, Median cle... OMIM:136760
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... ORPHA:3409
Smith-Magenis Syndrome
Delayed puberty, Abnormal form of the vertebral bodies, Joint stiffness, Delayed eruption of prim... ORPHA:819
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Proptosis, Shallow orbits, Arachnodactyly, Joint hypermobility, Craniosyn... OMIM:182212
Alazami Syndrome
Narrow palpebral fissure, Short palpebral fissure, Widely spaced teeth, Short philtrum, Scoliosis... OMIM:615071
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Long eyelashes, Short st... OMIM:615502
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco... ORPHA:88630
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Short 3rd meta... OMIM:118651
Harel-Yoon Syndrome
Scoliosis, Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Hip dysp... OMIM:617183
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Telecanthus, Abnormality of the vertebral column, Proptosis, Hypoplas... OMIM:109120
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Developmental glaucoma, Corneal opacity, Talon cus... ORPHA:2409
Hypophosphatasia, Childhood
Proptosis, Short stature, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowin... OMIM:241510
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Flared metaphysis, Calcific stippling of infant... OMIM:215100
Gorham-Stout Disease
Mandibular pain, Abnormal ethmoid bone morphology, Abnormal bone ossification, Abnormal femur mor... ORPHA:73
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Open mouth, Epicanthus, Dental malocclusion, Upslanted palpebral ... OMIM:619149
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath... OMIM:601216
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Scoliosis, High palate, Short stature, Micrognathia, Down... OMIM:610883
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Downslanted pal... OMIM:157980
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Everted lower lip vermilion, Wrist fl... ORPHA:800
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses... OMIM:222600
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Sac... OMIM:201000
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Everted lower lip vermilion, Short metacarpal, Kyphosis, W... ORPHA:192
Mucopolysaccharidosis, Type Iva
Hyperlordosis, Kyphosis, Wide mouth, Constricted iliac wing, Joint hypermobility, Coxa valga, Cer... OMIM:253000
Osteoglophonic Dysplasia
Eruption failure, Proptosis, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Sev... OMIM:166250
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Scoliosis, Postaxi... OMIM:252100
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Flexion contrac... OMIM:168400
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Tapered finger, Hypoplasia of the maxilla, Short palm, Camptodactyly of finger, Shor... ORPHA:85279
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, High, narrow palate, Hypermobility of interphalangeal joints, Atlantoaxial abnorm... ORPHA:3433
Sanjad-Sakati Syndrome
Postnatal growth retardation, Thin vermilion border, Astigmatism, Abnormal dental enamel morpholo... ORPHA:2323
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Dental crowding, Proptosis, Joint stiffness, Pathologic fracture, Osteoly... OMIM:614008
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Kyphoscoliosis, Growth delay, Camptodactyly of finger, Micrognathia, Developm... OMIM:610756
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sacral dimple, Astigmatism, Sandal gap, Dental crowding, Scoliosi... OMIM:615761
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ... ORPHA:2050
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Th... OMIM:615979
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, E... OMIM:618727
Nager Syndrome
Abnormal palate morphology, Hypoplasia of the radius, Aplasia/Hypoplasia of the eyebrow, Triphala... ORPHA:245
Richieri-Costa/Guion-Almeida Syndrome
Hypotelorism, Spina bifida occulta, Mandibular prognathia, Abnormal digit morphology, Short statu... OMIM:268850
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Abnormal f... ORPHA:577
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion co... OMIM:193700
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Small epiphyses, Delayed... ORPHA:166016
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Scoliosis, Premature osteoarthritis, Kyphosis, ... OMIM:130060
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Clinodactyly of the 5th finger, Astigmatism, Everted lower lip vermilion, Sy... OMIM:618067
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Clinodactyly of the 5th finger, Hypotelorism, Short philtrum, Mandibular prognathia, Downturned c... OMIM:618672
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Wide anterior fontanel, H... ORPHA:3098
2q37 monosomy
Deeply set eye, Thin upper lip vermilion, Brachydactyly DECIPHER:44
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Microcornea, Short ph... OMIM:302350
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Disproportionate short-limb... OMIM:156530
Weill-Marchesani Syndrome 1
Narrow palate, Broad phalanges of the hand, Proportionate short stature, Tooth malposition, Micro... OMIM:277600
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Highly arched eyebrow, Dental c... OMIM:618342
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Macroglossia ORPHA:1423
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hyperlordosis, Kyphosis, Long philtrum, Short 5th finger, Short philtrum, Scoliosis, Short statur... OMIM:618443
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Xq27.3Q28 Duplication Syndrome
Thin vermilion border, Short stature, Intrauterine growth retardation, Deeply set eye, Short foot... ORPHA:261483
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Genu valgum, Reduced bone mineral density, Spina bifida occulta, Short phi... ORPHA:2983
Progeria-Short Stature-Pigmented Nevi Syndrome
Fragile teeth, Osteopenia, Delayed puberty, Band keratopathy, Selective tooth agenesis, Cataract,... ORPHA:2959
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Abnormal metacarpal morphology, Upper eyelid coloboma, Oligodontia, Abnormal eyelid ... ORPHA:2095
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Everted upper lip vermilion, Clinodactyly of the 5th finger, Short philtrum, Gingival overgrowth,... OMIM:618381
8Q22.1 Microdeletion Syndrome
Sandal gap, Telecanthus, Finger syndactyly, Highly arched eyebrow, Limitation of joint mobility, ... ORPHA:178303
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Gand Syndrome
Narrow palpebral fissure, Short philtrum, Blepharophimosis, Long fingers, Wide mouth, Long toe, H... OMIM:615074
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, High palate, Broad thumb, Micrognathia, Long hallux, Hallux valgus, Clinodactyly, Hyp... OMIM:620194
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,... OMIM:259440
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Adducted thumb, Notched primary central incisor, Brachydactyly OMIM:620062
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Robinow Syndrome, Autosomal Dominant 3
Proptosis, Kyphosis, Broad thumb, Syndactyly, Long philtrum, Clinodactyly, Sacral dimple, Triangu... OMIM:616894
Intellectual Developmental Disorder, X-Linked 108
Clinodactyly of the 5th finger, Downslanted palpebral fissures, Long philtrum, Deeply set eye, Th... OMIM:301024
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Scoliosis, Microcornea, Intrauterine growth retardation, Osteoporosis... ORPHA:48431
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Intervertebral space narrowing, Small epiphyses... ORPHA:263463
Kabuki Syndrome 2
Highly arched eyebrow, Prominent fingertip pads, Joint hypermobility, Short 5th finger, Intrauter... OMIM:300867
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Corneal opacity, Kyphosis, Joint stiffness, Wide mouth, Constricted iliac wing, Jo... OMIM:253010
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, High pa... OMIM:616294
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies... ORPHA:93262
Cri-Du-Chat Syndrome
Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ... OMIM:123450
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Astigmatism, Scoliosis, High palate, Enamel hypoplasia, Epicanthus, Joint hy... OMIM:618205
Oliver Syndrome
Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Prominent fingertip pads, ... ORPHA:2920
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Short neck, Intrauterine gro... ORPHA:2570
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula... OMIM:607326
Alagille Syndrome
Hypoplasia of the ulna, Delayed puberty, Clinodactyly of the 5th finger, Short philtrum, Spina bi... ORPHA:52
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Joint contracture of the 5th finger, Prominent fingertip pads, Joint hypermobility,... OMIM:620098
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy... ORPHA:970
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Hypoplasia of the maxilla, Co... OMIM:167730
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding,... OMIM:101600
Familial Expansile Osteolysis
Fragile teeth, Premature loss of teeth, Bowing of the long bones, Thin bony cortex, Pathologic fr... OMIM:174810
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Hypotelorism, Scoliosis, High palate, Bowing of the long bones, Congenital hip disloc... OMIM:612940
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Craniosynostosis, Keratoconus, Postaxial hand polydacty... OMIM:175700
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Calvarial osteosclerosis, Decreased skull ossification, Thin long b... ORPHA:93324
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Astigmatism, Delayed eruption of teeth, Hyperexte... OMIM:619797
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Scoliosis, Mandibular prognathia, Corneal opacity, Micrognathia, Hip dysplasia, ... ORPHA:496790
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epi... ORPHA:163649
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Hypoplasia... ORPHA:776
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormality... OMIM:607634
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Multiple prenatal fractures, Biconcave vert... OMIM:301014
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Downslant... OMIM:176920
Hallermann-Streiff Syndrome
Hyperlordosis, Everted lower lip vermilion, Joint hypermobility, Narrow palate, Decreased number ... OMIM:234100
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental crowding, 2-3 toe syndactyly, 4-5 fing... OMIM:617201
Cerebellar-Facial-Dental Syndrome
S-shaped palpebral fissures, Foot joint contracture, Slender long bone, Scoliosis, Tapered finger... ORPHA:444072
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Scoliosis, Everted lower lip vermilion, Kyphosis, Short stature, Downslanted palpebr... ORPHA:276630
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Scoliosis, Short upper lip, Kyphosis, Short... ORPHA:364028
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Cat... OMIM:136300
Cohen Syndrome
Delayed puberty, Abnormal hip bone morphology, Sandal gap, Kyphosis, Tooth agenesis, Arachnodacty... ORPHA:193
Basilicata-Akhtar Syndrome
Retrognathia, Telecanthus, Camptodactyly, Short palm, Downturned corners of mouth, Short neck, Do... OMIM:301032
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... ORPHA:1193
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Hypotelorism, Scoliosis, High palate, Micrognathia, Dental malocclusion, Contractures... ORPHA:329178
Acromicric Dysplasia
Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal... OMIM:102370
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Intrauterine growth r... OMIM:300590
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Osteopenia, High, narrow palate, Thick lower lip vermilion, Telecanthus, Ptosis, Sparse eyebrow, ... OMIM:617268
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Split hand, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Scoliosis, High palate, Kyphosis, Ptosis, Micrognathia, Downsla... OMIM:611890
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion ... OMIM:259450
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Femoral bowi... OMIM:277440
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Bilateral ptosis, Short palpebral fissure, Short philtrum, Joint contracture of the... ORPHA:352490
12Q14 Microdeletion Syndrome
Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis, Synophrys, Sho... ORPHA:94063
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Proptosis, Corneal opacity, Shallow orbits, Flexion contracture of f... OMIM:601812
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Kury-Isidor Syndrome
Rocker bottom foot, Widely spaced teeth, Sacral dimple, Proximal placement of thumb, Triangular m... OMIM:619762
Pycnodysostosis
Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Increased bone mineral d... OMIM:265800
Wieacker-Wolff Syndrome, Female-Restricted
Rocker bottom foot, Scoliosis, Kyphosis, Short stature, Short neck, Downturned corners of mouth, ... OMIM:301041
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Postnatal growth retardation, Mandibular prognathia, 2-3 toe syndactyly, Joint hyperm... ORPHA:2324
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Open bite, Vertebral segment... ORPHA:2617
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Megalocornea-Intellectual Disability Syndrome
Everted lower lip vermilion, Kyphosis, Joint hypermobility, Genu varum, Astigmatism, Short philtr... ORPHA:2479
20P13 Microdeletion Syndrome
Polydactyly, Narrow palpebral fissure, Telecanthus, Finger syndactyly, Wide anterior fontanel, Mi... ORPHA:313781
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo... OMIM:255800
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, High palate, Camptodactyly, Kyphosis, Micrognathia, Short neck,... OMIM:618393
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Hypoplastic ilia, S... ORPHA:93296
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Short... OMIM:122860
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Broad philtrum, Joint hypermobility, Sho... OMIM:305400
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis... OMIM:618728
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Hip disloc... OMIM:164200
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Thin lower lip vermilion, Abnormality of the dentition, Camptodactyly, Carious teet... ORPHA:363444
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Highly arched eyebrow, Wide mouth, Long philtrum, Overlapping toe, C... OMIM:616737
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, High palate, Sparse eyelashes, Carious teeth, Downturned corners of mouth, Mi... OMIM:620070
Myhre Syndrome
Gingival cleft, Large iliac wing, Joint stiffness, Bifid uvula, Unilateral cleft lip, Severe shor... ORPHA:2588
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t... OMIM:190351
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sa... ORPHA:1452
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, Short philtrum, Wide anterior fontanel, Oligodactyly, Na... OMIM:201170
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Mandibular prognathia, Short metaca... OMIM:614813
Apert Syndrome
Limited elbow movement, Proptosis, Shallow orbits, Broad thumb, Bifid uvula, Syndactyly, Craniosy... OMIM:101200
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Triphalangeal thumb, Gin... OMIM:618658
Congenital Myopathy 22A, Classic
Bilateral ptosis, Spinal rigidity, Dental crowding, Scoliosis, High palate, Proptosis, Congenital... OMIM:620351
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... ORPHA:40
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... ORPHA:1782
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Everted lower lip vermilion, Lumbar kyphosis in infancy, Blue irides, Short philt... ORPHA:3041
Osteogenesis Imperfecta, Type Viii
Disproportionate short-limb short stature, Tibial bowing, Femoral bowing, Short metacarpal, Decre... OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Congenital Myopathy 17
Overlapping fingers, Telecanthus, Mandibular prognathia, High palate, Tapered finger, Proptosis, ... OMIM:618975
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Martsolf Syndrome 1
Slender ulna, Short metacarpal, Broad femoral neck, Joint hypermobility, Long philtrum, Short phi... OMIM:212720
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i... OMIM:613849
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Neonatal short-limb short stature, Lens luxation, Short long bone, ... OMIM:224400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypote... ORPHA:3082
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Abnormality of the dent... OMIM:617952
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Short stature, Shor... OMIM:618392
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Keratoconus, Abnorma... ORPHA:3071
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Hypoplastic iliac wing, Narrow palate, Oligodontia, Scoliosis, Camptodactyly, Short... OMIM:235510
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hamartoma of the orbital region, Telecanthus, Severe postnatal gr... ORPHA:2399
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Paranasal sinus hypoplasia, Arachnodactyly, Bifid uv... OMIM:300373
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Everted lower lip vermilion, Broad thumb, Wide mouth, Broad philtrum, Joint hypermobility, Long p... OMIM:619720
Fountain Syndrome
Abnormal form of the vertebral bodies, Everted lower lip vermilion, Kyphosis, Wide mouth, Short d... ORPHA:3219
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short long bone, Proptosis, Prominent interphalangeal joints, Short stature, Short palm, Short ph... OMIM:215150
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of the 5th fing... ORPHA:2769
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Abnormality of bone mineral density, Temporomandibular joint ankylosis,... ORPHA:2741
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Microdontia, Severe short stature, Joint hypermobility, Int... OMIM:607095
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Short stature, Dental malocclusion OMIM:259730
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Generalized osteoscl... ORPHA:53
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Hyperlordosis, Broad thumb, Craniosynostosis, Narrow palat... ORPHA:794
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename... OMIM:612463
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Thin vermilion border, 2-3 toe syndactyly, Synophrys, Almond-shaped palpebral fissure, Downturned... OMIM:300860
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Shallow orbits, Joint stiffness, ... OMIM:608328
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Spinal rigidity, Clinodactyly of the 5th finger, Tapered distal phalan... OMIM:620545
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Congenital hip dislocation, Deviation of finger, Malar ... ORPHA:2412
Christianson Syndrome
Mandibular prognathia, Thick eyebrow, Joint hypermobility, Adducted thumb, Deeply set eye, Arthro... ORPHA:85278
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Telecanthus, Wide anterior fontanel, Short long bone,... OMIM:263210
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Carious teeth, Clinodactyly, Down-sloping shoulders, Lacrimal duct sten... OMIM:615560
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Severe short stature, Platysp... OMIM:126550
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Severe short stature... OMIM:270450
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Limited elbow movement, Limitation of knee mobility, Increased overbite, High palat... ORPHA:319171
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Congenital bilateral ptosis, Camptodactyly, Micrognathia, Downslanted palpebral fissures, Malar f... OMIM:608257
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Localized Scleroderma
Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Arthritis, Abnormal bone struct... ORPHA:90289
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Proptosis, Kyphosis, Abnor... ORPHA:2522
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Medial flaring of the eyebrow, Clinodactyly of the 5th finger, Sandal gap,... OMIM:617602
Forsythe-Wakeling Syndrome
Growth delay, Deeply set eye, Osteoporosis, Short stature OMIM:613606
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Glossopto... ORPHA:828
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Clinodactyly of the 5th finger, High palate, Short foot, Camptodactyly, Proportion... OMIM:227330
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla... OMIM:129400
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Telecanthus, Slender long bone, Scoliosis, High palate, Downturned corners of mouth, ... OMIM:618590
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Telecanthus, Abnormal pelvic girdle bone morphology, Short metacarp... ORPHA:1422
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Ck Syndrome
Kyphoscoliosis, Dental crowding, High palate, Almond-shaped palpebral fissure, Long fingers, Mala... ORPHA:251383
Beaulieu-Boycott-Innes Syndrome
Short palpebral fissure, Dental malocclusion, Carious teeth, Velopharyngeal insufficiency, Microg... OMIM:613680
Crouzon Syndrome
Narrow palate, Proptosis, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Ptosis, Co... ORPHA:207
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Radio-Tartaglia Syndrome
Retrognathia, Highly arched eyebrow, Dental crowding, Wide mouth, Long philtrum, Short philtrum, ... OMIM:619312
Chromosome 2Q37 Deletion Syndrome
Narrow palpebral fissure, Type E brachydactyly, Highly arched eyebrow, Short metacarpal, Short fo... OMIM:600430
Traboulsi Syndrome
Retrognathia, Short finger, Spherophakia, Phakodonesis, High palate, Iris atrophy, Cataract, Arac... OMIM:601552
Trisomy 13
High, narrow palate, Hypotelorism, Scoliosis, Abnormal eyelash morphology, Postaxial hand polydac... ORPHA:3378
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Reduced bone mineral density, Astigmatism, Oral ulcer, Microdontia, Cong... OMIM:617052
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Scoliosis, High palate, Hypoplasia of the maxilla, Ptosis, Long fingers, Flex... OMIM:218000
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Abnormality of the philtrum, Abnormality of the dentition, Microretrognathia, Deepl... ORPHA:276422
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Platyspondyly, Delayed eruption... ORPHA:166272
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Telecanthus, Abnormality of the dentition, Everted lower lip vermilion... ORPHA:85321
3Mc Syndrome 2
Limited elbow movement, Highly arched eyebrow, Broad philtrum, Joint hypermobility, Craniosynosto... OMIM:265050
Ullrich Congenital Muscular Dystrophy
Abnormal palate morphology, Spinal rigidity, Scoliosis, Elbow flexion contracture, Kyphosis, Slen... ORPHA:75840
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, Deeply set eye, High palate OMIM:617915
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Short stature, Cleft palate, Malar flattening, Smooth philtrum, Intrauteri... OMIM:611867
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hypotelorism, Finger syndactyly, Epicanthus, Short neck, Deeply set e... ORPHA:251046
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Thin vermilion border, Patellar hypoplasia, Gingival overgrowth, Short fourth metat... ORPHA:464288
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Hypotelorism, Short stature, Micrognathia, Smooth philtrum, Intrauteri... OMIM:614104
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Astigmatism, Gingival overgrowth, Mandibular prognathia... OMIM:614753
Au-Kline Syndrome
Retrognathia, Shallow orbits, Bifid uvula, Craniosynostosis, Overlapping toe, Coxa valga, Sacral ... OMIM:616580
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Cardiofaciocutaneous Syndrome 1
Proptosis, Palpebral thickening, Scoliosis, Absent eyelashes, Abnormality of the dentition, Short... OMIM:115150
Recon Progeroid Syndrome
Thin vermilion border, Proximal placement of thumb, Dental crowding, Short stature, Arachnodactyl... OMIM:620370
Marshall Syndrome
Thick lower lip vermilion, Genu valgum, High palate, Abnormality of the dentition, Cataract, Hypo... ORPHA:560
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Proptosis, Bifid uvula, Broad philtrum, Long philtrum, Impacted ... OMIM:211380
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Luo-Schoch-Yamamoto Syndrome
Astigmatism, Short philtrum, Highly arched eyebrow, Narrow mouth, Long eyelashes, Almond-shaped p... OMIM:619460
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Short philtrum, Scoliosis, Almond-shaped palpebral fissure, Short s... OMIM:619504
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ... ORPHA:93316
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Retrognathia, Astigmatism, Short philtrum, Gingival overgrowth, Prominent fingertip pads, Laryngo... OMIM:616875
Noonan Syndrome 4
Bilateral ptosis, Scoliosis, Short stature, Ptosis, Downslanted palpebral fissures, Sparse eyebro... OMIM:610733
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Abnormal eyelid morphology, Abnormal nasolacrimal system morph... ORPHA:3220
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Broad thumb, Micrognathia, Downslanted palpebral fissures, Brachydactyly, Smoo... OMIM:614526
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Narrow mouth, Everted lower lip vermilion, Tapered finger, Short foot, Deeply set eye... OMIM:618089
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Absent eyelashes, Hypoplasia ... ORPHA:228396
O'Donnell-Luria-Rodan Syndrome
Downslanted palpebral fissures, Deeply set eye, Tapered finger, Kyphosis OMIM:618512
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Platyspondyly, Vertebral compression fracture, Rhizomeli... OMIM:613848
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Synophrys, Widely-spaced incisors, Hypoplasia of the maxilla, Thick eyebrow, Smooth philtrum, Ups... OMIM:618737
Kniest Dysplasia
Bilateral ptosis, Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Proptosis... ORPHA:485
Hypomelanosis Of Ito
Radial deviation of finger, Thick lower lip vermilion, Scoliosis, Kyphosis, Irregularly spaced te... OMIM:300337
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Phelan-Mcdermid Syndrome
Palpebral edema, Widely spaced teeth, Clinodactyly of the 5th finger, Sacral dimple, 2-3 toe synd... OMIM:606232
Caffey Disease
Scoliosis, Calvarial hyperostosis, Proptosis, Cortical irregularity, Periosteal thickening of lon... ORPHA:1310
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Proptosis, Broad thumb,... OMIM:615777
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Tibial bowin... OMIM:264700
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ... ORPHA:2107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Thin vermilion border, Severe intrauterine growth retardation, Shor... OMIM:241410
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Smooth philtrum, Deep... OMIM:620393
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Abnormal femoral head morphology, Abnormal primary molar morphology, Corneal opaci... ORPHA:1830
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Scolio... OMIM:619718
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, Broad eyebrow, Thoracic kyphoscoliosis, High palate, Hypoplasia of the max... ORPHA:481152
Codas Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo... ORPHA:1458
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Retrognathia, Broad finger, Cataract, Short stature, Short phalanx ... OMIM:300845
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Finger syndactyly, Bilateral cleft palate, Abnormal eyelid morphology, Euryblephar... ORPHA:1997
De Barsy Syndrome
Osteopenia, Kyphoscoliosis, Adducted thumb, Postnatal growth retardation, Delayed eruption of tee... ORPHA:2962
Nablus Mask-Like Facial Syndrome
Retrognathia, Sandal gap, Highly arched eyebrow, Everted lower lip vermilion, Long philtrum, Cran... OMIM:608156
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Short metacarpal, Decre... OMIM:215140
Emanuel Syndrome
Sacral dimple, Astigmatism, Broad jaw, Dental crowding, Scoliosis, High palate, Kyphosis, Congeni... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye, Prominent fingertip pads OMIM:614113
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Downslanted palpebral fissures, Deeply set eye, Short philtrum OMIM:300471
3M Syndrome
Rocker bottom foot, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypoplastic ischia, Hyp... ORPHA:2616
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption failure, Scolios... OMIM:230740
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Genu valgum, Osteopenia, Telec... ORPHA:2462
Perlman Syndrome
Retrognathia, High, narrow palate, Broad alveolar ridges, Ptosis, Micrognathia, Open mouth, Smoot... ORPHA:2849
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Femoral bowing, Everted lower lip vermilion, Arachnodact... OMIM:600920
Myopathy, Centronuclear, X-Linked
High palate, Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe OMIM:310400
Frontorhiny
Iris coloboma, Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly o... ORPHA:391474
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Everted lower lip vermilion, Joint stiffness, Long philtrum, Intrauterine growth ... OMIM:620494
Nail-Patella Syndrome
Microphakia, Disproportionate prominence of the femoral medial condyle, Scoliosis, Keratoconus, S... OMIM:161200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Highly arched eyebrow, Wide mouth, Long philtrum, Overlapping toe, C... ORPHA:487796
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Telecanthu... ORPHA:1190
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Mandibular prognathia, Scoliosis, Abnormality of th... OMIM:182290
8P23.1 Duplication Syndrome
Highly arched eyebrow, Thick vermilion border, Long philtrum, Toe syndactyly, Deeply set eye, Hyp... ORPHA:251076
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Astigmatism, Bicoronal synostosis, Dental crowding, Oligodontia, Sh... OMIM:619184
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar sco... OMIM:313420
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Oligodactyly,... ORPHA:1307
Kenny-Caffey Syndrome, Type 1
Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Proportionate short st... OMIM:244460
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Joint contracture, High palate, Kyphosis OMIM:611225
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal bone ossification, Abnormal diaphysis morphology, Generali... ORPHA:73230
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Short stature, Epicanthus, Hypertelorism, Hip dislocation, Short foot, Small... OMIM:300434
Dyskeratosis Congenita
Periodontitis, Scoliosis, Abnormal eyelash morphology, Abnormality of the dentition, Osteoporosis... ORPHA:1775
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Scoliosis, Tooth a... ORPHA:2645
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Spinal rigidity, Dental crowding, Proptosis, Triangular mouth, Short philtrum, Scol... OMIM:620369
Crouzon Syndrome
Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High palate, Proptosis, Shal... OMIM:123500
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... OMIM:614856
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, A... ORPHA:1106
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Dental crowding, Scoliosis, Short met... OMIM:180870
Emanuel Syndrome
Kyphoscoliosis, Dental crowding, Bifid uvula, Long philtrum, Intrauterine growth retardation, Sac... ORPHA:96170
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss... ORPHA:137888
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Dental crowding, Bifid uvula, Short philtrum, Scoliosis, Osteoporosis, Short stat... OMIM:309583
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Kyphosis, Bifid uvula, Wide mouth, Symphalangism affecting the phalan... ORPHA:2658
Three M Syndrome 1
Postnatal growth retardation, Thick lower lip vermilion, Clinodactyly of the 5th finger, Increase... OMIM:273750
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Scoliosis, Proptosis, Short... OMIM:617190
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Acc... OMIM:619142
Borjeson-Forssman-Lehmann Syndrome