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Gene: Mtf2 MGI:105050

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

metal response element binding transcription factor 2

Synonyms:

C76717, Pcl2, M96, 9230112N11Rik

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 Mtf2 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 Mtf2 (0 diseases)
Human diseases predicted to be associated with Mtf2 (1227 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mtf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dwarfism With Tall Vertebrae	Increased vertebral height, Coxa vara	OMIM:126950
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,...	OMIM:184255
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormality of th...	ORPHA:3268
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Abnormal metaphysis morphology, Increased vertebral height, Short thorax, Platysp...	ORPHA:93304
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Scoliosis, Mandibular prognathia, Abnormality of the dentition, Kyphosis,...	ORPHA:1858
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Pectus carinatum, H...	OMIM:613330
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Brachyolmia, Maroteaux Type	Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly	ORPHA:93302
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R...	OMIM:184400
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti...	OMIM:187760
Primary Basilar Invagination	Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine	ORPHA:2285
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp...	ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Short long bone, Tooth agenesis, Thoracic hypoplasia, Coxa valga, ...	OMIM:618363
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib...	ORPHA:1354
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Serrate...	OMIM:272440
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o...	OMIM:271530
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends, Short palm, Coxa vara	ORPHA:168555
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch	OMIM:271620
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ...	ORPHA:2790
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Scoliosis, Oligodontia, Pectus excavatum, Kyphosis, Everted lower lip vermilion...	ORPHA:276630
Clark-Baraitser syndrome	Genu valgum, Thick lower lip vermilion, Scoliosis, Prominent median palatal raphe, Exaggerated me...	OMIM:300602
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Parastremmatic Dwarfism	Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Short neck	OMIM:168400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Pectus carinatum, Sc...	OMIM:609223
Three M Syndrome 2	Pectus carinatum, Hyperlordosis, Prominent calcaneus, Severe short stature, Intrauterine growth r...	OMIM:612921
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Scoliosis, Hyperlordosis, Bowing ...	ORPHA:2501
Mcdonough Syndrome	Abnormal palate morphology, Short philtrum, Cachexia, Scoliosis, Open bite, Mandibular prognathia...	ORPHA:2471
Metatropic Dysplasia	Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb...	OMIM:156530
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Bilateral coxa valga, Abnormal vertebral morphology, Abnormal ilium morphology	ORPHA:163665
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Vertebral wedging, Hypoplas...	OMIM:616583
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Patchy distortion of vertebrae, Vertebral cl...	OMIM:155050
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Narrow mouth, Kyphosis, Short stature, Failure to thrive, Hip dysplasia	OMIM:620007
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges...	OMIM:609616
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors...	ORPHA:363417
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum...	ORPHA:1570
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios...	OMIM:234250
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis...	OMIM:618728
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpholo...	ORPHA:2180
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Abnorm...	OMIM:144750
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Prominent...	OMIM:613684
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Delayed ossification of carpal bones, Decreased body weight, Kyphosis, Short st...	OMIM:618392
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosi...	OMIM:259440
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno...	ORPHA:1797
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Spondylocostal Dysostosis 6, Autosomal Recessive	Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis	OMIM:616566
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu...	ORPHA:1836
Intellectual Disability And Myopathy Syndrome	Scoliosis, Incisor macrodontia, Congenital hip dislocation, Dental malocclusion, Thin upper lip v...	OMIM:619719
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Short long bone, Cup...	OMIM:614524
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus	OMIM:236660
Camptodactyly Syndrome, Guadalajara Type 1	Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Short distal phalanx o...	ORPHA:1327
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Square...	OMIM:608728
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b...	OMIM:112350
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses...	OMIM:222600
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Short stature, Cleft pal...	OMIM:615502
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Short stature, Short thumb, Overlapping toe	OMIM:618453
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Masa Syndrome	Adducted thumb, Hydrocephalus, Hyperlordosis, Kyphosis, Short stature, Ventriculomegaly	OMIM:303350
Becker Nevus Syndrome	Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs	OMIM:604919
Intellectual Developmental Disorder, X-Linked 19	Kyphoscoliosis, Thick lower lip vermilion, Dental crowding, Scoliosis, Everted lower lip vermilio...	OMIM:300844
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Syndactyly	OMIM:615938
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cupping, Thoracic ...	OMIM:602271
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,...	ORPHA:1193
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula...	OMIM:607326
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Acrodysplasia Scoliosis	Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Kuskokwim Syndrome	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa...	ORPHA:1149
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, High, narrow palate, Azoospermia, Hydrocephalus, Hypergonadotropic hypogona...	ORPHA:2183
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Delay...	ORPHA:2050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Delaye...	OMIM:612350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly, Abnormal vertebral morphology	OMIM:618709
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Barrel-shaped chest, Hypoplastic iliac wing, S...	OMIM:313400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the ...	ORPHA:163966
Pyle Disease	Genu valgum, Delayed eruption of teeth, Scoliosis, Mandibular prognathia, Hypoplastic frontal sin...	OMIM:265900
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Short metatarsal, Upp...	OMIM:271650
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Wide mout...	OMIM:253000
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Kyphosis, Dental malocclusion, Tongue atrophy	OMIM:141300
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
3M Syndrome	Rocker bottom foot, Hyperlordosis, Enlarged thorax, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Poland Syndrome	Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Uni...	OMIM:173800
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis, Hallux valgus, Dental malocclusion, Short stature	OMIM:615541
Orofaciodigital Syndrome Ii	Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ...	OMIM:252100
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro...	ORPHA:66637
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Cohen Syndrome	Delayed puberty, High, narrow palate, Genu valgum, Childhood-onset truncal obesity, Short metatar...	OMIM:216550
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Small for gestational age, Kyphosis, Short stature	ORPHA:85288
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, High palate, Kyphosis	OMIM:611225
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Temple Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Hydrocephalus, Scoliosis, Short sta...	ORPHA:254516
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, U-Shaped upper lip vermilion	OMIM:129850
Three M Syndrome 1	Short ribs, Hyperlordosis, Pectus excavatum, Hypoplastic pelvis, Intrauterine growth retardation,...	OMIM:273750
Femoral-Facial Syndrome	Long philtrum, Ventriculomegaly, Abnormal sacrum morphology, Abnormal fibula morphology, Scoliosi...	ORPHA:1988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Metaphyseal cuppi...	OMIM:300863
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Short thorax, Pectus carinatum, Scol...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Kyphosis, Microgn...	OMIM:618393
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Narrow chest, Pectus carinatum, Scoliosis, Mandibular prognathia, High palate, Pectus excavatum, ...	OMIM:300676
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Short stature, Eun...	ORPHA:2234
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis, Thin upper lip vermilion	OMIM:609384
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac...	ORPHA:1436
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Broad metacarpals, Kyphosis, Osteolysis involving tarsal ...	OMIM:277950
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of the dentition, Gingivitis, Periodontitis	ORPHA:1008
Acrootoocular Syndrome	Kyphoscoliosis, Short finger, Grayish enamel, Supernumerary tooth, High, narrow palate, Sandal ga...	ORPHA:2980
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ...	OMIM:603546
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Hydrocephalus, Shoulder dislocation, Scoliosis, Kyphosis, Arachnodactyly, Ad...	ORPHA:2181
Intellectual Disability, Birk-Barel Type	High, narrow palate, Sacral dimple, Short philtrum, Incisor macrodontia, Congenital finger flexio...	ORPHA:166108
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Irregular f...	OMIM:255710
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly	OMIM:615937
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular sclerotic endplates, Metaphyseal ...	OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of th...	OMIM:184252
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,...	OMIM:605282
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Long fingers, Dental malocclusion, Tapered finger, Mild short...	OMIM:618292
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Childhood-onset short-trunk short stature, Pectus carinatum,...	OMIM:184100
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Scoliosis, Open bite, Gingival ove...	ORPHA:61
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Hydrocephalus, Short stature, Obesity, Hypogonadism, Hypog...	ORPHA:141333
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Hyd...	OMIM:613686
Harrod Syndrome	Abnormal shoulder morphology, Scoliosis, High palate, Abnormal pelvic girdle bone morphology, Kyp...	ORPHA:2115
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi...	ORPHA:763
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Enamel hypoplasia, Downturned corners of mouth, Severe short stature, Br...	ORPHA:2643
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho...	OMIM:251450
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Thin ribs, Narrow iliac wing, High palate, Pectus ex...	OMIM:616294
Temple Syndrome	Short philtrum, Hydrocephalus, Scoliosis, High palate, Intrauterine growth retardation, Short sta...	OMIM:616222
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Scoliosis, Microretrognathia, Small hand	OMIM:300884
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Fried Syndrome	Hydrocephalus, Scoliosis, High palate, Short philtrum	ORPHA:85335
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Scoliosis, Thin ribs, Del...	OMIM:618395
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Hydrocephalus, Flared metaph...	OMIM:187600
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Adducted thumb, Notched primary central incisor, Brachydactyly	OMIM:620062
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long philtrum, Thin vermilion bord...	OMIM:257850
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Secondary amenorrhea, Short stature, Lumbar scoliosis, Lower limb undergrowth, Ir...	OMIM:612847
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of...	OMIM:615630
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Abnormal interverte...	ORPHA:2701
Achondroplasia	Narrow greater sciatic notch, Cervical spinal canal stenosis, Short proximal phalanx of finger, D...	ORPHA:15
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187601
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Hydrocephalus, Choroid plexus cyst, Short ...	OMIM:617866
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Ventriculomegaly, Failure to thrive, Kyphosis	ORPHA:319199
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Scoliosis, Abnormality of the dentition, Kyphosis, Arachnodactyly	ORPHA:1548
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Sacral dimple, Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Short philtrum, H...	ORPHA:1516
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Clinodactyly of the 5th finger, 11 pairs of ribs, Spondylolisthesis, Spina bifida occulta, Sandal...	OMIM:617877
Potocki-Lupski Syndrome	Dental crowding, Scoliosis, Mandibular prognathia, High palate, Short stature, Failure to thrive,...	OMIM:610883
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox...	OMIM:190350
Diastrophic Dysplasia	Abnormal clavicle morphology, Short finger, Abnormal metaphysis morphology, Neonatal short-limb s...	ORPHA:628
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short philtrum, Scoliosis, Mandibular prognathia, Everted lower lip vermilion, Kyphosis, Wide mou...	ORPHA:2429
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Dental malocclusion, Slender long bone, Scoliosis, S...	OMIM:616202
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Cervical spinal canal stenosis, Shortening of all middle phalanges of the finger...	OMIM:301900
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Cleidocranial Dysplasia	Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal meta...	ORPHA:1452
Ruvalcaba Syndrome	Delayed puberty, Short metatarsal, Narrow chest, Dental crowding, Scoliosis, Short metacarpal, Ky...	OMIM:180870
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis, Short stature, Hip dislocation, Short foot, Small hand	OMIM:300434
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology, Short stature	ORPHA:1513
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone...	ORPHA:239
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Neonatal short-limb short stature, Adducted thumb, Encephalocele, N...	OMIM:224400
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Short upper lip, Short...	ORPHA:364028
Cdkl5-Deficiency Disorder	Scoliosis, Everted lower lip vermilion, Kyphosis, Growth delay, Thick vermilion border, Broad pro...	ORPHA:505652
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Mosaic Trisomy 14	Narrow chest, High palate, Abnormal rib morphology, Camptodactyly of finger, Micrognathia, Cleft ...	ORPHA:1703
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Advanced ossification of carpal bones, Narrow chest, Snail-lik...	OMIM:269250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Cupped ribs, Short long bone, Short ...	OMIM:608940
Ck Syndrome	Retrognathia, Dental crowding, Scoliosis, Hyperlordosis, High palate, Abnormal digit morphology, ...	OMIM:300831
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, Short stature, Microgn...	ORPHA:48431
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog...	OMIM:618729
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar ...	OMIM:313420
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Scoliosis	OMIM:615220
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Kyphosis, Constricted iliac wing, Wide mouth, Coxa valga, Cer...	OMIM:253010
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Pectus carinatum, Scol...	OMIM:619797
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, High palate, Kyphosis, Ab...	ORPHA:3098
Jeune Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Bethlem Myopathy 2	Scoliosis, Scapular winging, Kyphosis, Hip dislocation	OMIM:616471
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormal vertebral morphology, Abnormal metacarpal mor...	ORPHA:2319
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick lower lip vermilion, Gin...	OMIM:618658
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis, Coxa vara, Broad femoral neck, Abnormal ossification involving the femoral h...	ORPHA:2114
Bruck Syndrome 1	Vertebral wedging, Pectus carinatum, Scoliosis, Abnormality of the dentition, Kyphosis, Coxa vara...	OMIM:259450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Clinodactyly of the 5th finger, Pectus...	ORPHA:3082
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer...	ORPHA:3352
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Abnormally ossified vertebrae, Ab...	ORPHA:3035
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Childhood-onset short-trunk short stature, Scoli...	OMIM:113500
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Hydrocephalus, Abnormal dental enamel morphology, Yellow-brown discolora...	ORPHA:1946
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co...	ORPHA:2484
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Premature ovarian insufficiency, Scoliosis, Split hand, Kyphosis, Short stat...	OMIM:618124
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Microdontia, Short s...	OMIM:258850
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Mulibrey Nanism	Absent frontal sinuses, Dental crowding, Hypodontia, Hypoplastic frontal sinuses, Short stature, ...	OMIM:253250
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Disproportionate short-l...	ORPHA:2655
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Kyphosis, Split foot, Intrauterine growth retardation, Hip dislocation, Abnorma...	ORPHA:958
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis, Hip dislocation	OMIM:616756
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Abnormality of the dentition, Abnormal dental morphology...	ORPHA:210110
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Pectus carinatum, Mandibular prognathia, Open bite, High palate, ...	ORPHA:3079
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Delayed pubic bone ossification, Pectus carinatum, Kyphosis, Bifid uvula, Hi...	OMIM:183900
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Wide mouth, Long philtrum, Short distal phalanx of ...	OMIM:616331
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm...	ORPHA:3409
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Scoliosis, High palate, Kyphosis, Micrognathia, Long philtrum	ORPHA:2598
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck...	OMIM:118100
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hip dysplasia, Failure to thrive, Hip dislocation	ORPHA:250994
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Intervertebral space narro...	ORPHA:263463
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Lethal Congenital Contracture Syndrome Type 1	Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Sclerosteosis 1	Irregular menstruation, Tooth malposition, Broad clavicles, Mandibular prognathia, Abnormal pelvi...	OMIM:269500
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Long philtrum, Genu valgum, Widely spaced teeth, Spatulate ribs, Bro...	OMIM:619698
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal r...	ORPHA:1506
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Momo Syndrome	Large for gestational age, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing, ...	ORPHA:2563
Biemond Syndrome Ii	Hydrocephalus, Preaxial hand polydactyly, Short stature	OMIM:210350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Genu varum, Hip dislocat...	ORPHA:93360
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Abnormal dental enamel morphology, Sc...	ORPHA:1798
Frontometaphyseal Dysplasia 1	Cervical C2/C3 vertebral fusion, Dislocated radial head, Arachnodactyly, Increased density of lon...	OMIM:305620
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Short stature, Mi...	OMIM:241800
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Short long bone, Flat acetabular roof, Abnormally ossified vertebrae, Kyphosis, ...	ORPHA:94068
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Short philtrum, Scoliosis, High palate, Clinodactyly, Micrognathia,...	ORPHA:254531
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Holoprosencephaly 5	Semilobar holoprosencephaly, Orofacial cleft, Alobar holoprosencephaly, Hydrocephalus, Syntelence...	OMIM:609637
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Cole-Carpenter Syndrome 1	Vertebral compression fracture, Hydrocephalus, Scoliosis, Microdontia, Communicating hydrocephalu...	OMIM:112240
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Pectus excavatum, Kyphosis, Incomplete cleft of the upper lip, Micrognathia, Cer...	ORPHA:77300
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi...	OMIM:250420
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Azoospermia, Abnormal rib morphology, Short stature, Cleft u...	OMIM:601076
Muenke Syndrome	Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the...	OMIM:602849
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Malar flattening, Brachydactyly, Short neck, Dental malocclusion, Di...	ORPHA:436245
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Conical incisor, Hy...	OMIM:235510
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Narrow mouth, Intrauterine growth reta...	OMIM:615834
Achondroplasia	Narrow greater sciatic notch, Short ribs, Femoral bowing, Trident hand, Thoracic hypoplasia, Lumb...	OMIM:100800
Desbuquois Dysplasia 2	Pectus carinatum, Dental crowding, Short long bone, Flat acetabular roof, Pectus excavatum, Short...	OMIM:615777
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sacral dimple, Sandal gap, Dental crowding, Scoliosis, Hyperlordo...	OMIM:615761
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Obesity, Smooth...	OMIM:157980
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Narrow chest, Encephalocele, Short thorax, Hydrocephalus, Kyphosi...	ORPHA:93274
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight, Everted lower lip vermilion	ORPHA:1672
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ...	OMIM:259420
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Severe short stature, Intrauterine growth reta...	OMIM:607095
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w...	OMIM:230650
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Craniometadiaphyseal Dysplasia	Genu valgum, Flared metaphysis, Dental crowding, Scoliosis, Mandibular prognathia, High palate, M...	OMIM:269300
Ruvalcaba Syndrome	Delayed puberty, Thin vermilion border, Clinodactyly of the 5th finger, Proximal placement of thu...	ORPHA:3121
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Pro...	OMIM:253220
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Brachydactyly, Dental malocclusion	OMIM:619692
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys...	OMIM:602557
Neural Tube Defects, Susceptibility To	Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints...	OMIM:182940
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Scoliosis, Micrognathia, Broad philtrum, Long philtrum, Ventriculomegaly, Clinodac...	OMIM:618577
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Scoliosis, Abnormality of the philtrum, Tapered finger, Short f...	OMIM:615547
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
15Q24 Microdeletion Syndrome	Postnatal growth retardation, Abnormal thumb morphology, Abnormal palate morphology, Thick lower ...	ORPHA:94065
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Slender long bone, Scoliosis, Failure to thrive, Micrognathia, Macrodontia o...	ORPHA:444072
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Bell-shaped thorax, Narrow chest, Wide distal femoral metaphysis, M...	OMIM:613320
Myopathy, Myofibrillar, 8	Spinal rigidity, Joint contracture of the 5th finger, Scoliosis, Scapular winging, Pectus excavat...	OMIM:617258
Larsen-Like Syndrome	Kyphoscoliosis, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Short stature...	OMIM:608545
Pycnodysostosis	Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Narrow iliac wing, Scoli...	OMIM:265800
Grant Syndrome	Abnormal palate morphology, Narrow chest, Open bite, Bowing of the long bones, Abnormal rib morph...	ORPHA:2097
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Narrow greater sciatic notch, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Thick lower lip vermilion, Broad ja...	ORPHA:10
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:607778
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Ventriculomeg...	OMIM:614120
Craniosynostosis 3	Hallux valgus, Brachydactyly, Dental malocclusion	OMIM:615314
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Everted lower lip vermilion, Downturned corn...	OMIM:618067
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Brachyd...	ORPHA:1914
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger,...	ORPHA:1883
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Achondrogenesis Type 1B	Disproportionate short stature, Narrow chest, Short thorax, Abnormal rib morphology, Micrognathia...	ORPHA:93298
Kleefstra Syndrome 2	Scoliosis, Everted lower lip vermilion, Kyphosis, Growth delay, Bifid uvula	OMIM:617768
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Bell-shaped thorax, Scoliosis, High palate, Kyphosis, Short neck, Clinodactyly	ORPHA:178148
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Thin clavicles, Calvarial osteosclerosis, Thin ribs, Thin long bone...	ORPHA:93324
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal palate morphology, Scoliosis, Vertebral segmentation defect, Open bite, Kyphosis, Cariou...	ORPHA:2617
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Thick lower lip vermilion, Kyphosis, Epiphyseal dysp...	ORPHA:583
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Gorlin Syndrome	Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed...	ORPHA:377
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Hydrocephalus, Talon cusp, Hypoplasia of the maxilla, Growth d...	ORPHA:2409
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Growth ...	ORPHA:238750
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Na...	ORPHA:1515
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally ossified v...	ORPHA:93284
Ellis Van Creveld Syndrome	Neonatal short-limb short stature, Thin vermilion border, Genu valgum, Narrow chest, Delayed erup...	ORPHA:289
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short stature	OMIM:617404
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies...	ORPHA:93262
Sillence Syndrome	Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Fibular overgrowth, Abnormal vertebral morphology, Vertebral compressi...	ORPHA:93352
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Short finger, Small epiphyses, Short stature, Anterior rib cup...	OMIM:300232
Gómez-López-Hernández Syndrome	Hydrocephalus, Thin vermilion border, Short stature	ORPHA:1532
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Short long bone, Metaphyseal irregularity, Long philtrum, Hip dislocation, Cervica...	OMIM:616007
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Short philtrum, Hydrocephalus, High palate, Growth delay, Micr...	OMIM:620156
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, C...	ORPHA:3242
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck	OMIM:300718
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Thick lower lip vermilion, Sandal gap, Mandibular prognathia, Kyphosis, Short st...	OMIM:300354
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
6P22 Microdeletion Syndrome	Abnormal palate morphology, Hydrocephalus, Finger syndactyly, Short neck, Clinodactyly	ORPHA:251046
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Arthrogryposis, Distal, Type 12	Spinal rigidity, Clinodactyly of the 5th finger, Tapered distal phalanges of finger, Dental crowd...	OMIM:620545
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Flared iliac wing,...	OMIM:253200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow chest, Encephalocele, Hydrocephalus, Clubbing of fingers, Hypoplastic pubic bone, Short ri...	ORPHA:1865
Hypomelanosis Of Ito	Radial deviation of finger, Thick lower lip vermilion, Scoliosis, Kyphosis, Hand polydactyly, Irr...	OMIM:300337
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Short philtrum, Scoliosis, High palate, Narrow mouth, Intrauterine ...	ORPHA:96184
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Hydrocephalus, Dandy-Walker malformation, Protruding tongue,...	OMIM:612938
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Spinal rigidity, Adducted thumb, Scoliosis, Kyphosis, Slender finger,...	ORPHA:75840
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Hip contracture, Hip dysp...	OMIM:615290
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,...	ORPHA:2475
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic girdle bone mo...	OMIM:166210
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, Anterior rounding of vertebra...	OMIM:260660
Houge-Janssens Syndrome 2	Hydrocephalus, Scoliosis, Pectus excavatum, Postaxial polydactyly, Broad hallux, Deviation of the...	OMIM:616362
Emanuel Syndrome	Kyphoscoliosis, Dental crowding, Bifid uvula, Hypogonadism, Long philtrum, Ventriculomegaly, Intr...	ORPHA:96170
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibula...	ORPHA:90652
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormality of the vertebral column, Hydrocephalus, Hypoplasia of the maxilla, Short stature, Mal...	OMIM:109120
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Scoliosis, High palate, Kyphosis, Micrognathia, Hip dysplasia, ...	OMIM:611890
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Short foot, Downturned corners of mouth, Micrognathia, ...	ORPHA:254525
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Narrow chest, Vertebral compression fracture, Small for gestational age, Angulated hu...	OMIM:616229
Fountain Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Abnormal metacarpal morphology, Spina bifi...	ORPHA:3219
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Narrow chest, Slender long bone, Dental crowding, Thin ribs, Short ...	OMIM:620601
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib...	ORPHA:2759
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Delayed eruption of teeth, Decreased fibular diameter, Arachnodacty...	OMIM:619489
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hammertoe, Hydrocephalus, Scoliosis, Exaggerated cupid's bow, High palate, Intrauterine growth re...	OMIM:619833
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Pectus excavatum, Arachnodactyly, Paranasal sinus hy...	OMIM:300373
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Lateral ventricle dilatation, ...	OMIM:611209
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Vertebral segmentation defect, G...	ORPHA:1834
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Congenital bilateral hip dislocation, Scoliosis, Kyphosis, Contracture of the proximal interphala...	OMIM:130060
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age, Hypoplasia of the maxilla	OMIM:618302
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Abnormality of the dentition, Abnormal rib morpholo...	ORPHA:436
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, High, narrow palate, Shoulder flexion contracture, Congenital bilateral hip dislo...	ORPHA:536516
Achondrogenesis, Type Ii	Short tubular bones of the hand, Barrel-shaped chest, Disproportionate short-limb short stature, ...	OMIM:200610
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Genu valgum, Spina bifida occulta, Short philtrum, Short thorax, Kyphosis,...	ORPHA:2983
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Hallermann-Streiff Syndrome	Hyperlordosis, Pectus excavatum, Everted lower lip vermilion, Decreased number of sternal ossific...	OMIM:234100
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Prominent fingertip pads, Postaxial ha...	ORPHA:2920
Monosomy 18P	Kyphoscoliosis, Short philtrum, Tooth malposition, Enlarged thorax, Pectus excavatum, Short statu...	ORPHA:1598
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Hydrocephalus, Pectus carinatum, Bowing of the long bones, Short palm, Mic...	ORPHA:171839
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Narrow chest, Delayed eruption of teeth, Dispropo...	OMIM:225500
Alexander Disease Type I	Hydrocephalus, Cachexia, Scoliosis, Failure to thrive	ORPHA:363717
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Hemivertebrae, Missing ribs, Micrognathia, Cleft palate...	OMIM:220210
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Fused thoracic ...	OMIM:618469
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Scoliosis, High palate, Pectus excavatum, Congenital hip dislocation, Camptodacty...	OMIM:114300
Edinburgh Malformation Syndrome	Thin vermilion border, Hydrocephalus, Narrow mouth, Slender finger, Failure to thrive, Long finge...	ORPHA:1895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Kyphosis, Hip contracture	OMIM:600175
3C Syndrome	Postnatal growth retardation, Orofacial cleft, High, narrow palate, Abnormal hip bone morphology,...	ORPHA:7
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Cleft palate	ORPHA:85317
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Long philtrum, ...	OMIM:265000
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal rib mor...	ORPHA:2876
Tetrasomy 15Q26	Kyphoscoliosis, Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly, Arachnodact...	OMIM:614846
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Abnormal sternum morphology, Short ribs, Polydactyly, Short 4th metacarpal, Hydro...	OMIM:109400
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Abnormal...	ORPHA:276422
Acalvaria	Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly	ORPHA:945
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Infantile Sialic Acid Storage Disease	Hydrocephalus, Gingival overgrowth, High palate, Failure to thrive, Metaphyseal irregularity, Abn...	OMIM:269920
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Intrauterine growth retardation, Ara...	OMIM:620568
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Hydrocephalus, Femoral...	ORPHA:1860
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Spinal rigidity, Kyphosis	OMIM:618323
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Cachexia, Hyperlordosis, Abnormall...	ORPHA:800
Fanconi Anemia, Complementation Group S	Narrow palate, Proximal placement of thumb, Short stature, Failure to thrive, Thick upper lip ver...	OMIM:617883
Osteogenesis Imperfecta	Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D...	ORPHA:666
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Long ph...	OMIM:102500
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Gracile Bone Dysplasia	Slender long bone, Hydrocephalus, Flared metaphysis, Thin ribs, Ankyloglossia, Short stature, Fai...	OMIM:602361
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Femoral retroversion, Scoliosis, Kyphosis, Short stature, Hypoplastic scapulae, ...	ORPHA:79107
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Narrow palate, Genu valgum, C1-C2 vertebral abnormality, Pectus carinatum,...	OMIM:182212
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Triploidy	Narrow chest, Meningocele, Hydrocephalus, Finger syndactyly, Non-midline cleft of the upper lip, ...	ORPHA:3376
Subaortic Stenosis-Short Stature Syndrome	Scoliosis, Synostosis of carpal bones, Microdontia, Kyphosis, Short stature, Micrognathia, Obesit...	ORPHA:3191
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Hydrocephalus, Abnor...	ORPHA:53
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short philtrum, Joint contracture of the 5th finger, Scoliosis, Narrow mouth, Kypho...	ORPHA:352490
X-Linked Intellectual Disability, Cabezas Type	Thick lower lip vermilion, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Cachexia, ...	ORPHA:85293
Genitopalatocardiac Syndrome	Hydrocephalus, Non-midline cleft of the upper lip, Scoliosis, Postaxial hand polydactyly, Kyphosi...	ORPHA:2075
Wieacker-Wolff Syndrome	Retrognathia, Proximal placement of thumb, Narrow chest, Broad alveolar ridges, Scoliosis, Hyperl...	OMIM:314580
Progeria-Short Stature-Pigmented Nevi Syndrome	Fragile teeth, Delayed puberty, Premature ovarian insufficiency, Hypodontia, Selective tooth agen...	ORPHA:2959
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Narrow chest, Flared metaphysis, Short ribs, Hypoplastic ilia, Hypop...	ORPHA:2347
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Short stature, Shield chest, Atlantoaxial instabil...	OMIM:184095
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Kyphosis, Short metaca...	ORPHA:192
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of the 5th fing...	ORPHA:2769
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Adducted thumb, Sacral dimple, Spina bifida occulta, Scoliosis, Extra-axial cereb...	OMIM:618291
Van Maldergem Syndrome 1	Short 4th metacarpal, Sacral dimple, Narrow chest, Short clavicles, Scoliosis, High palate, Campt...	OMIM:601390
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Short stature, Obe...	ORPHA:3085
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Hyperlordosis, Femoral bowing, Short long bone, Kyphos...	OMIM:618019
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Bell-shaped thorax, Diaphyseal sclerosis, Hydrocephalus, Pectus carinat...	OMIM:618476
Saul-Wilson Syndrome	Postnatal growth retardation, Short metatarsal, Cone-shaped epiphyses of the phalanges of the han...	OMIM:618150
Achondrogenesis Type 1A	Narrow chest, Short thorax, Short foot, Short palm, Micrognathia, Severe short stature, Long phil...	ORPHA:93299
Sandhoff Disease	Failure to thrive, Kyphosis	ORPHA:796
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:1788
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Pectus carinatum, Dental crowding, Thoracic kyphoscoliosis, Pect...	OMIM:618371
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,...	OMIM:210720
Achondrogenesis, Type Ia	Stillbirth, Hypoplastic sacrum, Hypoplasia of the radius, Bell-shaped thorax, Unossified vertebra...	OMIM:200600
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Narrow chest, Scoliosis...	ORPHA:140
Emanuel Syndrome	Sacral dimple, Broad jaw, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Dental crowding, H...	OMIM:609029
Trisomy 17P	Orofacial cleft, Clinodactyly of the 5th finger, Hydrocephalus, Scoliosis, High palate, Narrow mo...	ORPHA:261290
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Delayed eruption of teeth, Pectus carinatum, Hypoplastic i...	ORPHA:1855
Noonan Syndrome 4	Large for gestational age, Pectus excavatum of inferior sternum, Abnormal sternum morphology, Sco...	OMIM:610733
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Exaggerated cupid...	OMIM:619293
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Tooth agen...	ORPHA:193
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Hydrocephalus, Dandy-Walker malformation, Micrognathia, Supernumerary ribs, Ventric...	ORPHA:163961
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Failure to thrive, Kyphosis	OMIM:618237
Nestor-Guillermo Progeria Syndrome	Thin vermilion border, Dental malocclusion, Dental crowding, Thin ribs, Scoliosis, Osteolytic def...	OMIM:614008
Cri-Du-Chat Syndrome	Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ...	OMIM:123450
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Microdontia, Arachnodactyly, Slender long bon...	ORPHA:536467
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, High palate, Overtub...	ORPHA:3473
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Narrow chest, Scoliosis, Kyphosis, Short stature, Hip contracture, Cleft pala...	OMIM:301041
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Proportio...	OMIM:244460
Williams-Beuren Region Duplication Syndrome	Short philtrum, Hydrocephalus, High palate, Short stature, Failure to thrive, Micrognathia, Ventr...	OMIM:609757
Osteogenesis Imperfecta, Type X	Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Narrow chest, Scoliosis,...	OMIM:613848
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebra...	OMIM:276950
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Long philtrum, Thin vermilion border, Wide distal femoral metaphysis, Dislocated ...	OMIM:614856
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal diaphysis morphology, Narrow chest, Abnormal form of the v...	ORPHA:73230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Short stature	ORPHA:2786
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Houge-Janssens Syndrome 1	Hydrocephalus, Scoliosis, Congenital hip dislocation, Open mouth, Intrauterine growth retardation...	OMIM:616355
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H...	ORPHA:1106
Faciocardiomelic Syndrome	Polydactyly, Large for gestational age, Hyperplasia of the maxilla, Narrow chest, Slender long bo...	OMIM:612731
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho...	ORPHA:3258
Congenital Syphilis	Hydrocephalus, Tibial bowing, Notched primary central incisor, CSF pleocytosis, High palate, Semi...	ORPHA:499009
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Scoliosis, Kyphosis	ORPHA:816
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Retrognathia, Macrodontia of permanent maxillary central incisor, Hip dysplasia	ORPHA:466722
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Metaphyseal irregularity, Prominent deltoid tuberosities, Thoracic ...	OMIM:619636
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Scoliosis, High palate, Pectus excavatum, Bowing of the long bones, Congenital hip...	OMIM:612940
Robinow Syndrome	Kyphoscoliosis, Broad alveolar ridges, Dental crowding, Bifid distal phalanx of the thumb, Syndac...	ORPHA:97360
Coffin-Lowry Syndrome	Pectus carinatum, Pectus excavatum, Kyphosis, Short metacarpal, Everted lower lip vermilion, Vent...	OMIM:303600
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Premature ovarian insufficiency, Dental malocclusion, Endometriosis, Thin lower lip...	ORPHA:363444
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Scoliosis, ...	ORPHA:1005
Fanconi Anemia, Complementation Group R	Radial dysplasia, Hydrocephalus, Scoliosis, Growth delay, Absent thumb, Agenesis of permanent teeth	OMIM:617244
Cerebrofaciothoracic Dysplasia	Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Short stature,...	ORPHA:1394
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Kyphosis, Short stature, Thick vermilion border, Short neck, Macroglossia, D...	OMIM:616455
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Sacral dimple, Pectus excavatum, Kyphosis, Micrognathia	OMIM:618272
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Dis...	OMIM:610915
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Intrauterine growth retardation, Cone-shaped e...	ORPHA:439822
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Cooper-Jabs Syndrome	Proximal placement of thumb, Abnormal hip bone morphology, Scoliosis, Missing ribs, Abnormal rib ...	ORPHA:1488
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Flared metaphysis, Scoliosis, Short long bone, Metaphyseal spurs, C...	ORPHA:85167
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Scoliosis,...	OMIM:108300
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve...	OMIM:617952
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ...	ORPHA:380
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Short long bone, Split hand, Ky...	OMIM:252600
Bresek Syndrome	Hydrocephalus, Scoliosis, Hemivertebrae, Postaxial hand polydactyly, Growth delay, Cleft palate, ...	ORPHA:85284
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Thick lower lip vermilion, Widely spaced teeth, Abnormal hip bone...	ORPHA:579
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, High palate, Pectus excavatum, Camptodactyly, Shor...	OMIM:227330
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the ...	ORPHA:568
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Prominent fingertip pads, High palate, Short stature, Thick upper lip vermilion, O...	OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Hydrocephalus	OMIM:300886
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Short stature, Micrognathia, Cleft palate...	ORPHA:2145
Van Maldergem Syndrome 2	Short 4th metacarpal, Hip subluxation, Sacral dimple, Narrow chest, Short clavicles, Scoliosis, H...	OMIM:615546
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th...	OMIM:169400
Tetrasomy 5P	Postnatal growth retardation, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, High p...	ORPHA:3309
49,Xxxxy Syndrome	Taurodontia, Clinodactyly of the 5th finger, Delayed eruption of teeth, Azoospermia, Abnormal den...	ORPHA:96264
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Shoulder contracture, Pectus carinatum, Scoliosis, H...	OMIM:252605
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Mandibular prognathia, Genu valgum	OMIM:248000
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s...	ORPHA:1908
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Large for gestational age, Abnormality of the vertebral column, Hyd...	ORPHA:77301
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Decreased body weight, Short stature, Micrognathia, C...	OMIM:618265
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short ribs, Short long bone, Intrauterine growth retardation, Short finger, Short th...	OMIM:269860
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Hy...	ORPHA:457395
1Q44 Microdeletion Syndrome	Thin vermilion border, Hydrocephalus, Scoliosis, Exaggerated cupid's bow, High palate, Short stat...	ORPHA:238769
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, High palate, Scapular winging, Kyphosis, Intrauterine growth retardation	OMIM:255200
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, 3-4 toe syndac...	OMIM:618727
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Orofacial cleft	ORPHA:324416
Peters-Plus Syndrome	Square pelvis bone, Proximal placement of thumb, Disproportionate short-limb short stature, Pectu...	OMIM:261540
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Dental crowding, Scoliosis, Hi...	OMIM:617602
Baralle-Macken Syndrome	High, narrow palate, Obesity, Tapered finger, Kyphosis	OMIM:619255
Trisomy 9P	Sacral dimple, Clinodactyly of the 5th finger, Dental crowding, Scoliosis, Non-midline cleft of t...	ORPHA:236
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Adducted thumb, Small for gestational age, Flared metaphysis, Short ribs, Intrauterine growth ret...	OMIM:616897
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Hypodontia, Scoliosis, Hyperlordosis...	OMIM:618443
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Short philtrum, Alobar holoprosencephaly, High palate, Kyphosis, Ven...	OMIM:615433
15Q Overgrowth Syndrome	Retrognathia, Abnormal sternum morphology, Dental crowding, Abnormality of the incisor, Abnormal ...	ORPHA:314585
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Vertebral segmentati...	ORPHA:1120
Distal Triplication 15Q	Retrognathia, Large for gestational age, Hydrocephalus, Abnormal sternum morphology, Scoliosis, D...	ORPHA:314588
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Kabuki Syndrome 2	Postnatal growth retardation, Prominent fingertip pads, High palate, Decreased body weight, Short...	OMIM:300867
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis, Short stature, Downturned corners of mouth, Obesity, Absent pubertal growth ...	ORPHA:464282
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad clavicles, Broad alveolar ridges, Short long bone, Pectus excavatum, Kyphos...	OMIM:249420
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, High palate, Ectrodactyly, Myelomeningocel...	ORPHA:2437
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Hydrocephalus, Hemivertebrae, Growth delay, Holo...	ORPHA:77298
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short ribs, Femoral bowing, Short long bone, Absent tibia, Thoracic hypoplasia, Cone-shaped epiph...	OMIM:613091
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Broad thumb, Syndactyly, Long philtrum, Clinodactyly, Sacral dimple, Triangular mouth, ...	OMIM:616894
Arthrogryposis, Distal, Type 5	Scoliosis, Absent phalangeal crease, High palate, Pectus excavatum, Congenital finger flexion con...	OMIM:108145
Congenital Myopathy 17	Overlapping fingers, Narrow chest, Mandibular prognathia, Tapered finger, Pectus excavatum, High ...	OMIM:618975
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa vara, Biconcav...	OMIM:610968
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, T...	OMIM:620076
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
48,Xxxy Syndrome	Taurodontia, Clinodactyly of the 5th finger, Delayed eruption of teeth, Azoospermia, Abnormal den...	ORPHA:96263
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal palate morphology, Narrow chest, Abnormal form of the vertebral bodies, Hydrocephalus, S...	ORPHA:3042
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Flexion contracture of finger, Adducted thumb, Small for ges...	OMIM:618484
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Scoliosis, High palate, Failure to thrive, Micrognathia, Dental malocclusion, Deep philtrum, Thin...	ORPHA:329178
Takenouchi-Kosaki Syndrome	Widely spaced teeth, Proximal placement of thumb, Short philtrum, Dental malocclusion, Abnormal s...	OMIM:616737
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Dental crowding, Scoliosis, High palate, Pectus excavatum, Kyphosis, ...	OMIM:130720
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Dislocated radial head, High palate	OMIM:304100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Sandal gap, Short philtrum, Hydrocephalus, Scoli...	OMIM:619951
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Dental crowding, Scoliosis, Short long bone, Olig...	OMIM:619184
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carinatum, Microdontia, Long phil...	OMIM:245600
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Dandy-Walker malformation, Scoliosis, Abnormal...	OMIM:248700
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, High palate, Arachnodactyly, Dental malocclusion, Slend...	OMIM:310400
Kyphomelic Dysplasia	Lateral clavicle hook, Disproportionate short stature, Ulnar bowing, Bowed humerus, Flared metaph...	OMIM:211350
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Meningocele, Hydranencephaly, Short hard pala...	ORPHA:1393
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Carious teeth, Velopharyngeal insufficiency, Micr...	OMIM:613680
Au-Kline Syndrome	Retrognathia, Lipomyelomeningocele, Pectus excavatum, Bifid uvula, Ventriculomegaly, Overlapping ...	OMIM:616580
Orofaciodigital Syndrome Type 3	Dandy-Walker malformation, Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Abnor...	ORPHA:2752
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis, Mandibular prognathia	OMIM:300861
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Short metacarpal, Abnormal rib morphology, Iliac crest serration, Short palm, Metap...	ORPHA:93317
Apert Syndrome	Pectus carinatum, Broad thumb, Bifid uvula, Syndactyly, Ventriculomegaly, Narrow palate, Hydrocep...	OMIM:101200
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Flexion contracture of finger, Kyphosis	OMIM:619040
Crisponi Syndrome	Scoliosis, High palate, Narrow mouth, Kyphosis, Camptodactyly of finger, Micrognathia, Long philtrum	ORPHA:1545
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Dandy-Walker malf...	OMIM:302960
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Tapered finger, Carious teeth, Down-sloping shoulders, Microretrognathia, Denta...	OMIM:615560
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Dandy-Walker malformation, Bro...	OMIM:612582
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short...	OMIM:271520
Cardiofaciocutaneous Syndrome 1	Clinodactyly of the 5th finger, Hydrocephalus, Pectus carinatum, Scoliosis, Hyperextensibility of...	OMIM:115150
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Hand poly...	ORPHA:2167
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:175
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Scoliosis, Failure to thrive, Syndactyly, Intrauteri...	ORPHA:2169
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Calvarial osteosclerosis, Flared metaphysis, Hydrocephalus, Sandwich appearance o...	OMIM:259700
Hurler Syndrome	Diaphyseal undertubulation, Hydrocephalus, Short clavicles, Gingival overgrowth, Kyphosis, Flared...	OMIM:607014
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity, Wide mouth	OMIM:616521
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Narrow mouth, Postaxial hand polydactyly	ORPHA:83473
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Scoliosis, Vertebral segme...	ORPHA:96169
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Hydrocephalus, Narrow mouth, Abnormally ossified vertebrae, Missing ribs, Abnorm...	ORPHA:3301
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandible, High pa...	ORPHA:85184
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Absent thumb, Wide m...	OMIM:154400
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation	ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Syndactyly, Smooth philtrum, Ventriculomegaly	OMIM:602501
Short Syndrome	Radial deviation of finger, Small for gestational age, Delayed eruption of teeth, Slender long bo...	OMIM:269880
Marshall-Smith Syndrome	Kyphoscoliosis, Retrognathia, Short mandibular rami, Prominent fingertip pads, Glossoptosis, Pect...	OMIM:602535
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup...	ORPHA:364577
X-Linked Hypophosphatemia	Flared iliac wing, Abnormal epiphysis morphology, Genu varum, Enlargement of the costochondral ju...	ORPHA:89936
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Marfanoid Habitus With Situs Inversus	Pectus carinatum, Scoliosis, Hyperextensibility of the finger joints, Mandibular prognathia, Kyph...	OMIM:609008
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac...	OMIM:215140
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Finger syndactyly, Short hard palate, Scoliosis, Cachexia, Pectus excava...	ORPHA:1969
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, Y-shaped met...	OMIM:175700
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Pectus excavatum, Camptodactyly of finger, Intrauterine growth retardation, Ventri...	ORPHA:272
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Hypoplastic scapulae, Small ...	OMIM:607371
Cockayne Syndrome A	Normal pressure hydrocephalus, Square pelvis bone, Irregular menstruation, Severe postnatal growt...	OMIM:216400
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure to thrive, Colp...	OMIM:616034
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Retrognathia, Scoliosis, Dislocation of toes, Everted lower lip vermilion, Campto...	OMIM:300280
Fg Syndrome Type 1	Abnormal thumb morphology, Sacral dimple, Clinodactyly of the 2nd finger, Hydrocephalus, Abnormal...	ORPHA:93932
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Postnatal growth retardation, Rhizomelia, Vertebral segmenta...	ORPHA:263508
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Scoliosis, Dilated third ventricle, Kyphosis, Short stature, Failure to thrive, Hy...	ORPHA:500055
Typical Nemaline Myopathy	Spinal rigidity, Genu valgum, Narrow chest, Scoliosis, Hyperlordosis, High palate, Pectus excavat...	ORPHA:171436
Oculocerebrocutaneous Syndrome	Orofacial cleft, Hydrocephalus, Dandy-Walker malformation, Finger syndactyly, Missing ribs, Abnor...	ORPHA:1647
Multiple Pterygium-Malignant Hyperthermia Syndrome	Long philtrum, Advanced eruption of teeth, Finger syndactyly, Broad alveolar ridges, Scoliosis, E...	ORPHA:2215
Trisomy 13	High, narrow palate, Narrow chest, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle ...	ORPHA:3378
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Dental crowding, Scolio...	OMIM:617061
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ...	OMIM:271510
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Kabuki Syndrome	Abnormal form of the vertebral bodies, Microdontia, Short 5th finger, Ventriculomegaly, Lip pit, ...	ORPHA:2322
Raine Syndrome	Hydrocephalus, Gingival overgrowth, Mandibular prognathia, High palate, Pectus excavatum, Bowing ...	OMIM:259775
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, High, narrow palate, Narrow chest, Hydrocephalus, Lateral ventricular asymmetry, Hy...	OMIM:616914
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Scoliosis, Mandibular prognathia, Kyphosis, Enamel hypoplasia, I...	ORPHA:90322
Hurler Syndrome	Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Hydro...	ORPHA:93473
Hamamy Syndrome	Clinodactyly of the 5th finger, Dental malocclusion, Short 2nd finger, Hypodontia, Tapered finger...	OMIM:611174
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Dental crowding, Scoliosis, 2-3 toe syndactyly, Tapered finger, P...	ORPHA:476126
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth	OMIM:620114
Myhre Syndrome	Gingival cleft, Large iliac wing, Bifid uvula, Unilateral cleft lip, Severe short stature, Hypogo...	ORPHA:2588
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor, Hyperlordosis, Scapular w...	ORPHA:73223
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Long philtrum, Ventriculomegaly, Abnormal fibu...	ORPHA:251014
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Triangular mouth, Hydrocephalus, Dandy-Walker malformation, Intraut...	OMIM:257300
Flynn-Aird Syndrome	Cachexia, Carious teeth, Scoliosis, Kyphosis	ORPHA:2047
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Supernumerary tooth, Agenesis of molar, Scoliosis, Microdontia, Kyphosis, Diaste...	OMIM:619718
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Hydrocephalus, Mandibular prognathia, Hypoplasia of the maxilla, Failure to thrive,...	OMIM:620157
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Abnormal rib morphology, Hip dysplasia	ORPHA:195
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Genu valgum, Narrow chest, Abn...	ORPHA:2462
O'Donnell-Luria-Rodan Syndrome	Tapered finger, Kyphosis	OMIM:618512
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydrocephalus, Split h...	OMIM:309900
Alagille Syndrome	Hypoplasia of the ulna, Delayed puberty, Clinodactyly of the 5th finger, Spina bifida occulta, Bu...	ORPHA:52
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Proximal placement of thumb, Short metacarpal, Bifid uvula, Short 5th...	OMIM:268305
Marinesco-Sjogren Syndrome	Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Hypergonadotropic hypogonadism, Short st...	OMIM:248800
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil...	OMIM:117650
Poland Syndrome	Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum, Short ribs, Kyphosis, Apl...	ORPHA:2911
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short stature, Growth delay, Co...	ORPHA:370930
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Scoliosis, Gingival overgrowth, Kyphosis, Hypoplastic vertebral bodi...	OMIM:230500
Pyknoachondrogenesis	Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged thorax, Short ribs, Sho...	ORPHA:3003
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o...	OMIM:271665
Cantú Syndrome	Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Short distal phala...	ORPHA:1517
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature, Cleft palate, S...	ORPHA:261190
Multiple Pterygium Syndrome, X-Linked	Short finger, Thin ribs, Cleft upper lip, Micrognathia, Cleft palate, Abnormal cervical curvature...	OMIM:312150
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Scoliosis, Kyphosis	OMIM:618234
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Paresis of extensor muscles of the big toe, Scoliosis	ORPHA:99947
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly, Dilated fourth ventricle, M...	OMIM:220220
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Abnormal s...	ORPHA:1335
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Widely spaced teeth, Proximal placement of thumb, Short philtrum, D...	ORPHA:487796
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Disproportionate short-limb short stature, Pectus carin...	ORPHA:1507
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Pectus excavatum, ...	OMIM:304120
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Clinodactyly of the 5th finger, Kyphosis	ORPHA:3454
19P13.12 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Hypodontia,...	ORPHA:254346
Lessel-Kreienkamp Syndrome	Dental malocclusion, Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth	OMIM:619149
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Enlarged metaphyses, Short metacarpal, Kyphosis, Long philtrum, Ven...	ORPHA:508533
Mucopolysaccharidosis, Type Iiia	Scoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs	OMIM:252900
2P15P16.1 Microdeletion Syndrome	Retrognathia, Sandal gap, Scoliosis, Enlarged thorax, High palate, Pectus excavatum, Kyphosis, Ev...	ORPHA:261349
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal rib morphology, Bowing of the long bones, Brachydactyly, ...	ORPHA:1318
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Craniofacial asymmetry, Ventriculomegaly, Intrau...	OMIM:194190
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Disproportionate short stature, Rhizomelia, Irregular menstruation, Narrow chest, Hydrocephalus, ...	OMIM:616482
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Intrauterine growth retar...	OMIM:224690
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Kyphosis, Postaxial polydactyly, Thoracic scoliosis, Ventriculomegaly	OMIM:603387
Sialidosis Type 2	Short thorax, Pectus carinatum, Kyphosis, Short stature	ORPHA:87876
Marden-Walker Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Hydrocephalus, Pectus carinatum, Scoliosis, ...	ORPHA:2461
Prune Belly Syndrome	Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h...	ORPHA:2970
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo...	OMIM:619557
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Hydrocephalus, Postaxial polydactyly, Enamel hypoplasia, Failure to thrive, Growth ...	OMIM:614576
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Tibial bowing, Shor...	OMIM:143095
Radio-Renal Syndrome	Hypoplasia of the radius, Retrognathia, High, narrow palate, Abnormal form of the vertebral bodie...	ORPHA:3015
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Hydrocephalus, Hypergonadotropic hypogonadism, Growth delay, Bilat...	OMIM:300514
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, I...	ORPHA:1724
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F...	OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Kyphosis, Ventriculomegaly, Macroglossia, Vertebral fusion	OMIM:606612
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss...	ORPHA:137888
Monosomy 18Q	Kyphoscoliosis, Short philtrum, Hydrocephalus, Mandibular prognathia, High palate, Pectus excavat...	ORPHA:1600
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Spinal rigidity, Dental crowding, Scoliosis, Scapular winging, Pec...	OMIM:620351
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Abnormality of the dentition, Everted lower lip vermilion, Short statu...	ORPHA:85321
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Meningocel...	ORPHA:2789
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand...	OMIM:611134
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Hypogonadism, Cran...	ORPHA:1328
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Scoliosis, Kyphosis, Short stature, Bic...	OMIM:166220
Muenke Syndrome	High, narrow palate, Tarsal synostosis, Hydrocephalus, Short foot, Short palm, Malar flattening, ...	ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Pectus carinatum, Kyphosis, Biconcave vertebral bodies, ...	ORPHA:955
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Kyphosis	OMIM:614898
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Everted lower lip vermil...	OMIM:610443
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation	OMIM:610333
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Barrel-shaped chest, Narrow chest, Sandal gap, Hydrocephalu...	OMIM:612651
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ...	ORPHA:438216
Cockayne Syndrome B	Postnatal growth retardation, Normal pressure hydrocephalus, Square pelvis bone, Severe failure t...	OMIM:133540
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventriculomegaly, Disproportionate short-limb short stature, Abn...	ORPHA:2772
Pettigrew Syndrome	Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Dandy-Walker malformation, Scoliosi...	OMIM:304340
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Scoliosis, Hemivertebrae, High palate, Pectus excavatum, Congenital hip dislocatio...	OMIM:104350
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353277
Trisomy 1Q	Short thorax, Hydrocephalus, Narrow mouth, Abnormal rib morphology, Arachnodactyly, Camptodactyly...	ORPHA:261344
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Periodontitis, Hyper...	OMIM:231070
Osteopetrosis, Autosomal Recessive 2	Genu valgum, Diaphyseal sclerosis, Hydrocephalus, Mandibular prognathia, Persistence of primary t...	OMIM:259710
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs, Beaking of vertebral bodies	OMIM:252930
Bruck Syndrome	Scoliosis, Bowing of the long bones, Kyphosis, Short stature, Platyspondyly	ORPHA:2771
Ctcf-Related Neurodevelopmental Disorder	Thin vermilion border, Sacral dimple, Clinodactyly of the 5th finger, Sandal gap, Joint contractu...	ORPHA:363611
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Scoliosis, High palate, Intrauterine growth retard...	ORPHA:250989
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Narrow chest, Accessory oral frenulum, Hydrocephalus, Short ri...	OMIM:616546
Noonan Syndrome 1	Kyphoscoliosis, Postnatal growth retardation, High, narrow palate, Pectus excavatum of inferior s...	OMIM:163950
Lethal Congenital Contracture Syndrome 10	Narrow palate, Adducted thumb, Narrow chest, Femoral bowing, Short long bone, High palate, Intrau...	OMIM:617022
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand, Abnormal rib morpho...	ORPHA:1300
Mend Syndrome	Polydactyly, Sacral dimple, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, High pa...	OMIM:300960
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post...	OMIM:617895
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Broad distal phalanx of finger, Abnormal proximal phalanx mor...	ORPHA:353281
Sialidosis Type 1	Thick lower lip vermilion, Abnormal form of the vertebral bodies, Short thorax, Pectus carinatum,...	ORPHA:812
7Q11.23 Microduplication Syndrome	Thin vermilion border, Retrognathia, Sacral dimple, Dental malocclusion, Short philtrum, Hydrocep...	ORPHA:96121
Apert Syndrome	Narrow palate, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Delayed eruptio...	ORPHA:87
Fliedner-Zweier Syndrome	Meningocele, Scoliosis, High palate, Pectus excavatum, Kyphosis, Obesity, Long philtrum, Hallux v...	OMIM:620511
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Finger syndactyly, Foot polydactyly, Failure to thrive, Hand polydactyly, Toe synd...	ORPHA:60040
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Conical tooth, Pe...	OMIM:263750
Crouzon Syndrome	Hydrocephalus, Abnormal sacrum morphology, Narrow palate, Hypoplasia of the maxilla	ORPHA:207
Mend Syndrome	Sacral dimple, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Kyphosi...	ORPHA:401973
Diabetic Embryopathy	Hydrocephalus, Vertebral segmentation defect, Micrognathia, Cleft palate, Spinal dysraphism, Abno...	ORPHA:1926
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Sandal gap, Hydrocephalus, Abnormal dental enamel morph...	ORPHA:1812
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Retrognathia, Abnormal form of the vertebral bodie...	ORPHA:3412
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Split foot, Intrauterine growth retardation, Hip dislocation, Hypoplasia of the u...	OMIM:200980
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, U-Shaped upper lip vermilion, Postnatal growth retardation, Radial deviation of f...	OMIM:301040
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po...	OMIM:607361
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Kyphosis	ORPHA:1875
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Dental crow...	OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv...	OMIM:616300
Progressive Non-Infectious Anterior Vertebral Fusion	Thin vermilion border, Spinal rigidity, Abnormal intervertebral disk morphology, Short philtrum, ...	ORPHA:2062
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Syndactyly, Intrauterine growth retardation, Ventriculomegaly, Broad ribs, Hemiv...	OMIM:151050
Dubowitz Syndrome	Sandal gap, Pectus excavatum, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Intrauterine...	ORPHA:235
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Scoliosis, 2-3 toe syndactyly, Kyphosis, Postaxial polydactyly, A...	ORPHA:404440
Hydrolethalus	Retrognathia, Gingival cleft, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathi...	ORPHA:2189
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Kyphosis, Syndactyly, Intrauterine growth retardatio...	OMIM:176270
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Short stature	OMIM:618174
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus, Scoliosis, High palate, Pectus excavatum, Downturned corners of...	OMIM:618590
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Short stature, Narrow chest, Communicating hydrocephalus	ORPHA:1861
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Slender finger, Cleft palate, Open mouth	OMIM:147800
Kbg Syndrome	Widely-spaced maxillary central incisors, Radial deviation of finger, Clinodactyly of the 5th fin...	OMIM:148050
Iniencephaly	Rocker bottom foot, Orofacial cleft, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy...	ORPHA:63259
Multiple Pterygium Syndrome, Lethal Type	Short finger, Thin ribs, Micrognathia, Cleft palate, Abnormal cervical curvature, Intrauterine gr...	OMIM:253290
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Pectus excavatum, Everted lo...	OMIM:600920
Trisomy 20P	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Everted lower lip vermilion,...	ORPHA:261318
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Scoliosis, High palate, Kyphosis, Failure to thrive, Slender build, Increased la...	OMIM:254090
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Short thorax, Abnorm...	ORPHA:85199
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Fa...	ORPHA:420794
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity, Hypogonadism	OMIM:601794
Sanjad-Sakati Syndrome	Postnatal growth retardation, Thin vermilion border, Abnormal dental enamel morphology, Severe in...	ORPHA:2323
Shashi-Pena Syndrome	Retrognathia, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Mild fetal ...	OMIM:617190
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Scoliosis, Failure to thrive, Hand polydactyly, Cleft palate, Micr...	ORPHA:261197
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Mandibular prognathia, Everted lower lip vermilion, Kyphosis, Growth delay, Tented upp...	ORPHA:261144
Scapuloperoneal Spinal Muscular Atrophy	Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Metatarsus adductus, Hip dysplasia, Clinoda...	OMIM:181405
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip...	OMIM:277590
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Micrognathia, Cleft palate, Intrauteri...	OMIM:225790
Rett Syndrome	Cachexia, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature, Short foot	OMIM:312750
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Hypodontia, Abnormal femoral head morphology, Abnormal primary mo...	ORPHA:1830
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Sacral dimple, Proximal placement of thumb, Short philtrum, Hydrocephalus, S...	OMIM:613776
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentation defect, High pala...	ORPHA:96061
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Proximal placement of thumb, Scoliosis, High palate, K...	ORPHA:261250
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Ventriculomegaly, Kyphosis	ORPHA:500180
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, High...	ORPHA:93259
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Short philtrum, Short palm, Downturned corners of mouth, Thick up...	OMIM:619320
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Scoliosis, Broad metacarpals, Broa...	OMIM:277600
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large for gestational age, Coat hanger sign of ribs, Thoracic hypop...	ORPHA:254534
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Pectus carinatum, Hyperextensibility of the finger joints, Postaxial hand pol...	ORPHA:521426
W Syndrome	Hypoplasia of the ulna, Broad uvula, Camptodactyly, Metatarsus adductus, Upper lip pit, Radial bo...	ORPHA:2804
Stickler Syndrome	Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus carinatum, Cachexia, Glossoptosi...	ORPHA:828
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Short philtrum, Pectus carinatum, Scoliosis, 2-3 toe syndactyly, High palate, Evert...	OMIM:616449
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Long philtrum, Abnormal diaphysis morphology, Abnormal form of th...	ORPHA:354
Aymé-Gripp Syndrome	Rocker bottom foot, Postnatal growth retardation, Clinodactyly of the 5th finger, Hydrocephalus, ...	ORPHA:1272
Cerebrooculonasal Syndrome	Narrow palate, Postnatal growth retardation, Solitary median maxillary central incisor, Encephalo...	OMIM:605627
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Recurrent sinusitis, Overlapping toe, Sacral dimple, Scoliosis, Hemivertebrae, ...	OMIM:213980
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Malar flattening, Short stature	OMIM:218350
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Hemivertebrae, Postaxial hand...	OMIM:264480
Lopes-Maciel-Rodan Syndrome	Scoliosis, Short foot, Kyphosis, Small hand	OMIM:617435
Noonan Syndrome 14	High, narrow palate, Pectus carinatum, Scapular winging, Pectus excavatum, Kyphosis, Short statur...	OMIM:619745
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting	OMIM:615709
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Broad thumb, Wide mouth, S...	OMIM:305450
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Arthrogryposis, Distal, Type 4	Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Scoliosis, Kyphosis, Camptodactyly, L...	OMIM:609128
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Failure to thrive, Cleft lip, Notched primary central incisor	OMIM:620519
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Narrow chest, Ulnar bowing, Hydrocephalus, Femoral bowing, Camptodactyly, Hum...	OMIM:207410
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver...	OMIM:314390
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Scoliosis, Narrow mouth, Kyphosis, Micrognathia, Male hypogonadism	OMIM:615381
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Pectus excavatum, Microdontia, Overlapping toe, Sacrococcygeal pilon...	ORPHA:221120
Joubert Syndrome	Orofacial cleft, Encephalocele, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, ...	ORPHA:475
Arboleda-Tham Syndrome	Sandal gap, Pectus excavatum, Wide mouth, Intrauterine growth retardation, Genu varum, Short phil...	OMIM:616268
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Scoliosis, Decreased body weight, Hypergonad...	OMIM:617053
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormality o...	ORPHA:249
Joubert Syndrome 14	Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Short philtrum, Postaxial p...	OMIM:614424
Adams-Oliver Syndrome 2	Hydrocephalus, Absent distal phalanges, Micrognathia, Short middle phalanx of finger, Lateral ven...	OMIM:614219
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Sandal gap, Hydrocephalus, Prominent fingertip pads, High palate, Intrauteri...	OMIM:612863
Axenfeld-Rieger Syndrome, Type 2	Short philtrum, Hydrocephalus, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H...	OMIM:601499
Tenorio Syndrome	Recurrent aphthous stomatitis, Hydrocephalus, Scoliosis, Mandibular prognathia, Wide mouth, Ventr...	OMIM:616260
Kagami-Ogata Syndrome	Kyphoscoliosis, Large for gestational age, Postnatal growth retardation, Bell-shaped thorax, Coat...	ORPHA:254519
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Infertility, Kyphosis	OMIM:614409
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Broad thumb, Short stature, Hypoplastic verte...	OMIM:272200
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ...	OMIM:311200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Pectus carinatum, High palate, Kyphosis, Postaxial polydactyly, Failure to th...	OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Macroglossia	OMIM:613155
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Back pai...	ORPHA:98855
Joubert Syndrome With Ocular Defect	Orofacial cleft, Abnormal vertebral morphology, Encephalocele, Hydrocephalus, Scoliosis, Foot pol...	ORPHA:220493
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Short philtrum, High palate, Pectus excavatum, Kyphosis, Micrognathia...	OMIM:609944
B4Galt1-Cdg	Long philtrum, Hydrocephalus, Dandy-Walker malformation, Small for gestational age, Thin upper li...	ORPHA:79332
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Widely spaced teeth, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Short stature, Micr...	ORPHA:459061
Isolated Cleft Lip	Supernumerary maxillary incisor, Small for gestational age, Non-midline cleft of the upper lip, V...	ORPHA:199302
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Phelan-Mcdermid Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Widely spaced teeth, 2-3 toe syndactyly, High pala...	OMIM:606232
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Premature loss of teeth, Bowing of the long bones, Kyphosis, Lateral femoral...	OMIM:239000
Megalocornea-Intellectual Disability Syndrome	Short philtrum, Scoliosis, High palate, Everted lower lip vermilion, Kyphosis, Short stature, Mic...	ORPHA:2479
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Scoliosis	OMIM:617542
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Thumb contracture, Adducted thumb	OMIM:307000
Crouzon Syndrome	Hydrocephalus, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Ab...	OMIM:123500
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Pectus excavatum, Wide mouth, Mild fetal ventriculomegaly, Intrauterine ...	OMIM:619841
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Obesity, Narrow mouth, Kyphosis	ORPHA:261222
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Lateral ventricle dilatati...	OMIM:602200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Narrow chest, Postaxial polysynd...	OMIM:263520
Focal Dermal Hypoplasia	Midclavicular aplasia, Short ribs, Short metacarpal, Myelomeningocele, Split foot, Midclavicular ...	OMIM:305600
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Back pai...	ORPHA:98863
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Short stature, Camptodactyly of finger, Micrognathia, Growth delay, Thick ve...	OMIM:607015
Aicardi Syndrome	Postnatal growth retardation, Butterfly vertebrae, Proximal placement of thumb, Dandy-Walker malf...	OMIM:304050
Scarf Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum, Enamel hypoplasia, Long p...	ORPHA:3134
Desmosterolosis	Retrognathia, Hydrocephalus, Narrow mouth, Metatarsus adductus, Failure to thrive, Micrognathia, ...	ORPHA:35107
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Macroglossia,...	ORPHA:370959
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Holoprosencephaly	ORPHA:2182
Bloom Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Azoospermia, Growth delay, Hand pol...	OMIM:210900
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Exaggerated cupid's bow, Prominent sternum, Pectus ex...	ORPHA:254528
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Anencephaly, Finger syndactyly,...	ORPHA:887
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short philtrum, Hydrocephalus, Delayed ossification of carpal bones, Mandibular prognathia, Cleft...	OMIM:239300
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, Arachnodactyly, Intraut...	ORPHA:280
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Flaring of rib cage, Fused cervical vertebrae, Broad ribs	OMIM:612852
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Thin metacarpal cortices, Vertebral compression fracture, Bowed humerus, Thin lon...	OMIM:616507
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Genu valgum, Scoliosis, Mandibular prognathia, Kyphosis, Short stature, Hip contracture, Obesity,...	OMIM:618493
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Jacobsen Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Pectus excavatum, Missing ribs, Failure to thrive,...	OMIM:147791
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Malar flattening, Camptodactyly, Dental malocclusion	OMIM:608257
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight, Short stature, Growth delay, Prominence of the premaxilla	OMIM:614886
Microphthalmia, Syndromic 2	Sandal gap, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegaly, Dandy-Walke...	OMIM:300166
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Abnormal epiphysis morphology	ORPHA:2770
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Cleft upper lip, Cleft palate	ORPHA:398189
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Pontine Tegmental Cap Dysplasia	Scoliosis, Hemivertebrae, Rib fusion	OMIM:614688
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration	OMIM:245200
Rhombencephalosynapsis	Polydactyly, Hydrocephalus, Finger syndactyly, Narrow mouth, Short phalanx of finger, Microretrog...	ORPHA:59315
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Spina bifida occulta, Progres...	ORPHA:2369
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Back pai...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Back pai...	ORPHA:98853
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Adducted thumb, Hydrocephalus, Dandy-Walker malformation, High palate, Campt...	OMIM:617822
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, High, narrow palate, Slender long bone, Hydrocephalus, Thin ribs, High palate...	OMIM:208150
Antley-Bixler Syndrome	Narrow chest, Femoral bowing, Narrow mouth, Abnormal rib morphology, Camptodactyly of finger, Ara...	ORPHA:83
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Macroglossia, Vertebral fusion	OMIM:607155
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Intrauterine growth retardat...	OMIM:139210
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis, Wid...	ORPHA:818
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Postnatal growth retardation, Long philtrum, High, narrow palate, Sacral dimple, Prominent protru...	OMIM:300966
Joubert Syndrome With Renal Defect	Orofacial cleft, Encephalocele, Hydrocephalus, Scoliosis, Hand polydactyly, Cleft palate	ORPHA:220497
Pelizaeus-Merzbacher Disease	Cachexia, Scoliosis, Kyphosis, Short stature, Failure to thrive in infancy	ORPHA:702
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndactyly, Long philtrum, Ventr...	OMIM:134780
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Short philtrum, Dilated third ventricle, High palate, Kyphosis, Tented upper lip vermilion, Later...	OMIM:619244
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Kyphoscoliosis, Normal pressure hydrocephalus, Postnatal growth retardation, Genu valgum, High pa...	ORPHA:300570
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Scoliosis, Hyperlordosis, High palate, Mandibular prognathia, Kyphosis...	OMIM:617011
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Failure to thrive, Wide mouth, Long philtrum, Short neck, Hip dislocation	OMIM:608776
Ear-Patella-Short Stature Syndrome	Retrognathia, Bifid uvula, Severe short stature, Intrauterine growth retardation, Abnormal epiphy...	ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Scoliosis, High palate, Extra-axial cerebrospinal fluid accumulation, Kyphosis, ...	OMIM:619005
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia, Cleft palate	OMIM:243440
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Narrow chest, Vertebral compression fracture, Crumpled long bones, Femoral retroversi...	OMIM:610682
Jaberi-Elahi Syndrome	Triangular mouth, Pectus carinatum, Scoliosis, Dandy-Walker malformation, Kyphosis, Failure to th...	OMIM:617988
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology, Short stature	ORPHA:31
Spondyloepimetaphyseal Dysplasia, Krakow Type	Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Rhizomelia,...	OMIM:618162
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Femoral bowing, Short me...	ORPHA:95699
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Aicardi Syndrome	Delayed puberty, Butterfly vertebrae, Short philtrum, Scoliosis, Hip dysplasia, Missing ribs, Rib...	ORPHA:50
Occipital Horn Syndrome	Long philtrum, Genu valgum, Narrow chest, Pectus carinatum, Broad clavicles, Short clavicles, Hig...	OMIM:304150
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Macroglossia, Kyphosis	OMIM:151800
Atypical Rett Syndrome	Scoliosis, Kyphosis, Growth delay, Short foot, Small hand	ORPHA:3095
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	ORPHA:352447
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Scoliosis, Decreased body weight...	OMIM:266270
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, N...	OMIM:615108
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Short philtrum, Hydrocephalus, Mandibular prognathia, Microretrognathia, Ventricul...	OMIM:613603
Ulbright-Hodes Syndrome	Short ribs, Severe intrauterine growth retardation, Short metacarpal, Short humerus, Abnormal for...	ORPHA:3404
Rabin-Pappas Syndrome	Retrognathia, Hydrocephalus, Mandibular prognathia, Micrognathia, Obesity, Malar flattening, Fail...	OMIM:620155
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Broad clavicles, Pectus carinatum, Femoral ...	OMIM:276820
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Increased body weight, Infertility, Kyphosis, Short stature, Failure to thrive, Thin u...	ORPHA:398069
Martin-Probst Syndrome	Thick lower lip vermilion, Short stature, Micrognathia, Chordee, Wide mouth, Malar flattening, De...	OMIM:300519
47,Xyy Syndrome	Male infertility, Azoospermia, Hydrocephalus, Oligozoospermia, Malar flattening, Finger clinodactyly	ORPHA:8
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Genu valgum, Disproportionate short-limb short stat...	OMIM:619194
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Unilateral cleft lip	ORPHA:2736
Cardiofaciocutaneous Syndrome	Genu valgum, Hydrocephalus, Scoliosis, High palate, Pectus excavatum, Short stature, Failure to t...	ORPHA:1340
Optic Pathway Glioma	Hydrocephalus, Growth delay	ORPHA:2086
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Col...	OMIM:210710
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e...	OMIM:312870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Large for gestational age, Asymmetry of the thorax, Mandibular prognathia, High p...	ORPHA:457359
Zttk Syndrome	Kyphosis, Bifid uvula, Cervical ribs, Intrauterine growth retardation, Ventriculomegaly, Short ph...	OMIM:617140
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Thick lower lip vermilion, Scoliosis, Hyperlordosis, High palate, Pectus exc...	OMIM:162300
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Peho Syndrome	Abnormal palate morphology, Hydrocephalus, Gingival overgrowth, Malar flattening, Open mouth, Ven...	ORPHA:2836
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Adducted thumb	ORPHA:275543
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesi...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Scoliosis, Vertebral segmentation defect, Abnormality of primary teeth, Open...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Scoliosis, Vertebral segmentation defect, Abnormality of primary teeth, Open...	ORPHA:352665
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Pectus carinatum, High palate, Thick upper lip vermilion, Micrognathia, Ventriculo...	OMIM:614969
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Short thorax, Communicating hydrocephalus, Short stature, Brachydac...	ORPHA:168577
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Lateral clavicle hook, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip	OMIM:616788
Scarf Syndrome	Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum, Shor...	OMIM:312830
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Microretrognathia, Kyphosis	OMIM:619909
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Aplasia/Hypoplasia of the clavicles, Bifid u...	ORPHA:3310
Shprintzen Omphalocele Syndrome	Thin vermilion border, Narrow chest, Scoliosis, Decreased body weight, Kyphosis, Short stature, L...	OMIM:182210
Hyperparathyroidism, Transient Neonatal	Narrow chest, Thin ribs, Short ribs, Undulate ribs, Fractured rib, Femoral bowing, Communicating ...	OMIM:618188
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, N...	OMIM:615109
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Scoliosis, Pectus excavatum, Postaxial polydactyly...	ORPHA:457284
Carpenter Syndrome 2	Retrognathia, Pectus carinatum, Pectus excavatum, Broad thumb, Long philtrum, Narrow palate, Camp...	OMIM:614976
Catel-Manzke Syndrome	Pectus carinatum, Glossoptosis, Pectus excavatum, Short metacarpal, Ulnar deviation of the 2nd fi...	OMIM:616145
Postencephalitic Parkinsonism	CSF lymphocytic pleiocytosis, Kyphosis, Camptocormia, Open mouth, Abnormal CSF protein concentration	ORPHA:97349
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral column	ORPHA:1163
Craniorachischisis	Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Trisomy 18	Narrow palate, Abnormal hip bone morphology, Anencephaly, Non-midline cleft of the upper lip, Cac...	ORPHA:3380
Fucosidosis	Failure to thrive, Anterior beaking of lumbar vertebrae, Abnormality of the dentition, Kyphosis	ORPHA:349
Plasminogen Deficiency, Type I	Periodontitis, Hydrocephalus, Dandy-Walker malformation, Gingival overgrowth, Gingivitis, Ventric...	OMIM:217090
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Short ...	OMIM:617088
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Thick lower lip vermilion, Short philtrum, Pectus carinatum, Dental crowding, Man...	ORPHA:3063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Encephalocele, Hydrocephalus, Scoliosis, Cleft upper lip, Cleft palate, Ventricu...	OMIM:613150
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Scoliosis, Glossoptosis, Pectus excavatum, Postaxial polyd...	ORPHA:2886
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Narrow mouth, Communicating hydrocephalus, Downtu...	ORPHA:1780
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Mccune-Albright Syndrome	Abnormal femur morphology, Abnormal facial skeleton morphology, Scoliosis, Dental malocclusion, D...	ORPHA:562
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplastic coccygeal vertebrae, Clinodactyly of the 5th finger, Short philt...	OMIM:619512
Functioning Gonadotropic Adenoma	Delayed puberty, Hydrocephalus, Infertility, Oligozoospermia, Impotence, Abnormality of the menst...	ORPHA:91348
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Narrow ch...	OMIM:208500
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Micro Syndrome	Delayed puberty, Short philtrum, Scoliosis, High palate, Kyphosis, Short stature, Micrognathia, I...	ORPHA:2510
Cdags Syndrome	Short clavicles, Short ribs, Kyphosis, Cleft palate, Malar flattening	OMIM:603116
Primary Ciliary Dyskinesia	Male infertility, Hydrocephalus, Clubbing, Abnormal sperm motility, Female infertility, Ventricul...	ORPHA:244
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Hypoplasia of the radius, Abnormal vertebr...	OMIM:192350
Holoprosencephaly	Solitary median maxillary central incisor, Encephalocele, Abnormal form of the vertebral bodies, ...	ORPHA:2162
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal hip bone morphology, Hydrocephalus, High palate, Short stature, Arachnodactyly	ORPHA:2720
Baller-Gerold Syndrome	Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation, Short humerus, Absent ...	OMIM:218600
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Thickened cortex of long bones...	ORPHA:488434
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Hyperlordosis, Prominent fingertip pads, Pectus excavatum, K...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Hyperlordosis, Prominent fingertip pads, Pectus excavatum, K...	ORPHA:363958
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysi...	OMIM:269150
Radial Aplasia, X-Linked	Hydrocephalus, Absent radius	OMIM:312190
Fanconi Anemia	Abnormal femur morphology, Hypogonadism, Intrauterine growth retardation, Ventriculomegaly, Hip d...	ORPHA:84
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Scoliosis, Hyperlordosis, High palate, Kyphosis, Failure to t...	ORPHA:58
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Short stature, Downturned corners of mouth, Micrognathia, Communicating hydrocephalus	ORPHA:1064
Intellectual Developmental Disorder, Autosomal Dominant 73	Retrognathia, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Prominent interphalangeal joi...	OMIM:620450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hammertoe, Hydranencephaly, Hydrocephalus, Mandibular prognathia, Dilated third ve...	OMIM:620371
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, High palate, Narr...	OMIM:618050
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Scoliosis, Foot polydactyly, Hand polydactyly	ORPHA:2318
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, He...	OMIM:618223
Multiple Sulfatase Deficiency	Hydrocephalus, Broad thumb, Short stature, Smooth philtrum, Broad hallux phalanx	ORPHA:585
Wiedemann-Rautenstrauch Syndrome	Short humerus, Hypoplastic facial bones, Long philtrum, Intrauterine growth retardation, Long toe...	OMIM:264090
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Desmosterolosis	Rhizomelia, Gingival fibromatosis, Hydrocephalus, Failure to thrive, Micrognathia, Cleft palate, ...	OMIM:602398
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Micrognathia, Cleft palate, Brachydactyl...	OMIM:619123
Traboulsi Syndrome	Retrognathia, Short finger, High palate, Pectus excavatum, Arachnodactyly, Bifid uvula, Broad hal...	OMIM:601552
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Triphalangeal thumb, Infertility, Impotence, Kyphosis, Hypergonadotropic hypogon...	ORPHA:2232
Adams-Oliver Syndrome	Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Finger syndactyly, Spli...	ORPHA:974
Localized Scleroderma	Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Abnormality of the dentition, S...	ORPHA:90289
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Aplasia/hypoplasia ...	ORPHA:198
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Trismus, Finger syndactyly, Open bi...	ORPHA:2907
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Spondylolisthesis, Intervertebral disk degeneration, Pectus carinatum, Scoliosis, H...	ORPHA:284984
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Wide mouth, Syndactyly, Intraut...	OMIM:249000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, Hallux valgus, Hip d...	OMIM:617821
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Cachexia, Scoliosis, Kyphosis, Abnormal dental mor...	ORPHA:191
Icf Syndrome	Protruding tongue, Short stature, Communicating hydrocephalus, Micrognathia, Macroglossia	ORPHA:2268
Wrinkly Skin Syndrome	Slender long bone, Delayed eruption of teeth, Scoliosis, Scapular winging, Pectus excavatum, Kyph...	OMIM:278250
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing r...	OMIM:206900
Developmental And Epileptic Encephalopathy 49	Short philtrum, Hydrocephalus, Dandy-Walker malformation, Everted lower lip vermilion, Thick uppe...	OMIM:617281
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Loeys-Dietz Syndrome 1	Retrognathia, Spondylolisthesis, Hydrocephalus, Abnormal sternum morphology, Scoliosis, Pectus ca...	OMIM:609192
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal forearm bone...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal forearm bone...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal forearm bone...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal forearm bone...	ORPHA:881
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Distal 22Q11.2 Microduplication Syndrome	Sacral dimple, Short philtrum, Hydrocephalus, Scoliosis, Mandibular prognathia, High palate, Camp...	ORPHA:261337
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky...	OMIM:259770
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Hydrocephalus, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula, Natal ...	OMIM:123790
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Mycophenolate Mofetil Embryopathy	Orofacial cleft, Hydrocephalus, Foot polydactyly, Short palm, Micrognathia, Bifid thoracic vertebrae	ORPHA:268249
Beemer-Ertbruggen Syndrome	Micrognathia, Deep philtrum, Communicating hydrocephalus	ORPHA:1237
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Abnormal sternum morphology, Scoliosis, High palate, Kyphosis	OMIM:177850
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Hydrocephalus, Growth delay, Micrognathia, Cleft palate, Absent thumb, Absent...	OMIM:614083
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Genu valgum, Craniofacial hyperostosis, Abnormal form of the verteb...	ORPHA:581
Trisomy 8P	Clinodactyly of hallux, Clinodactyly of the 5th toe, Retrognathia, Sacral dimple, Clinodactyly of...	ORPHA:264450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Scoliosis	OMIM:615249
Osteopetrosis, Autosomal Recessive 3	Short stature, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies, Oligomenorrhea, Obesity, Ab...	OMIM:219090
Williams Syndrome	Abnormal form of the vertebral bodies, Hyperlordosis, Pectus excavatum, Kyphosis, Everted lower l...	ORPHA:904
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Narrow chest, Delayed eruption of teeth, Hydrocephalus, Bowing of...	ORPHA:667
H Syndrome	Delayed puberty, Azoospermia, Hydrocephalus, Gingival overgrowth, Camptodactyly, Short stature, C...	ORPHA:168569
Cowden Syndrome 1	Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, N...	OMIM:158350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Genu valgum, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Hydroc...	ORPHA:363700
Sacral Defect With Anterior Meningocele	Myeloschisis, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Myelom...	OMIM:600145
Alpha-Mannosidosis, Infantile Form	Genu valgum, Widely spaced teeth, Abnormality of the sphenoid sinus, Pectus carinatum, Mandibular...	ORPHA:309282
Walker-Warburg Syndrome	Hydrocephalus, Dandy-Walker malformation, Bifid uvula, Cleft palate, Metatarsus valgus, Ventricul...	ORPHA:899
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Scoliosis, Pectus excavatum, Kyphosis, Short foot, Intrauterine growth retardation, Failure to th...	ORPHA:464311
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Hydrocephalus, Narrow mouth, Tooth agenesis, Cleft palate, Malar flattening, Hypop...	ORPHA:1555
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Joubert Syndrome 2	Encephalocele, Hydrocephalus, Postaxial hand polydactyly, High palate, Failure to thrive, Enlarge...	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar kyphosis, Barrel-shaped chest, Hydrocephalus, Pectus carinatum, Thoracic kyphosis, Thick v...	ORPHA:505248
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Sacral dimple, Supernumerary tooth, Wid...	ORPHA:268261
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, High palate, Hypoplasia of teeth, Paranasal sinus hypoplasia, Cleft palate, ...	OMIM:603457
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Syndactyly, Intrauterine growth retardati...	OMIM:612289
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Bifid uvula, Colpocephaly, L...	OMIM:270400
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Osteopetrosis, Autosomal Recessive 5	Hip subluxation, Flared metaphysis, Hydrocephalus, Gingival overgrowth, Short stature, Growth del...	OMIM:259720
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Hydrocephalus, Dilated third ventricle, Short stature, Failu...	OMIM:619575
Isotretinoin-Like Syndrome	Postnatal growth retardation, Hydrocephalus, Micrognathia, Cleft palate, Intrauterine growth reta...	ORPHA:2306
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Atlantoaxial abnormality, H...	ORPHA:3455
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Kyphosis, Short stature...	ORPHA:464306
Mgat2-Cdg	Dental crowding, Scoliosis, Pectus excavatum, Kyphosis, Failure to thrive, Brachydactyly, Open mouth	ORPHA:79329
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Increased intervertebral space, B...	OMIM:619727
Coffin-Siris Syndrome 1	Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Kyphosis, Microdontia...	OMIM:135900
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft upper lip,...	OMIM:612284
Mucolipidosis Type Ii	Postnatal growth retardation, Abnormal long bone morphology, Narrow chest, Gingival overgrowth, R...	ORPHA:576
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormal thorax morphology, Communicating hydrocephalus	ORPHA:2184
Proteus-Like Syndrome	Hydrocephalus, Mandibular prognathia, Open bite, Communicating hydrocephalus	ORPHA:2969
22Q11.2 Deletion Syndrome	Arachnodactyly, Long philtrum, Intrauterine growth retardation, Abnormal thorax morphology, Short...	ORPHA:567
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Dental malocclusion, Delayed eruption of teeth, Dental crowdi...	OMIM:614188
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, High, narrow palate, Widely spaced teeth, Short philtrum, Dental...	OMIM:300967
Neurofibromatosis, Type I	Aqueductal stenosis, Genu valgum, Hydrocephalus, Scoliosis, Pectus excavatum, Spina bifida, Short...	OMIM:162200
Simpson-Golabi-Behmel Syndrome	Pectus excavatum, Broad thumb, Wide mouth, Dandy-Walker malformation, Scoliosis, Postaxial hand p...	ORPHA:373
Griscelli Syndrome	Hydrocephalus, Encephalocele, Short stature	ORPHA:381
Craniopharyngioma	Delayed puberty, Postnatal growth retardation, Hydrocephalus, Proportionate short stature, Growth...	ORPHA:54595
Holoprosencephaly 7	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,...	OMIM:610828
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Genu valgum, Scoliosis, Finger swelling, Kyphosis, Short stature, C...	OMIM:309000
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Orofacial cleft, Hydrocephalus, Scoliosis, Postaxial hand polydactyly	ORPHA:1454
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Alobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, Scoliosis, High pal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, Scoliosis, High pal...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, Scoliosis, High pal...	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, Scoliosis, High pal...	ORPHA:220386
Monosomy 9P	Proximal placement of thumb, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd...	ORPHA:261112
Charge Syndrome	Delayed puberty, Intrauterine growth retardation, Bifid femur, Polydactyly, Abnormal tibia morpho...	ORPHA:138
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss, Hip dysplasia, Avascular necrosis of the capital f...	OMIM:619377
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Multiple rib fractures	OMIM:612301
Kabuki Syndrome 1	Postnatal growth retardation, Abnormal vertebral morphology, Hydrocephalus, Scoliosis, Prominent ...	OMIM:147920
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Abnormality of the vertebral colum...	ORPHA:228123
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss...	ORPHA:1401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Encephalocele, Hydrocephalus, Scoliosis, Holoprosencephaly	OMIM:253800
Fraser Syndrome	Orofacial cleft, Encephalocele, Finger syndactyly, Dental crowding, Vertebral segmentation defect...	ORPHA:2052
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Congenital Sialidosis Type 2	Hydrocephalus, Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Flat acetabular roof, Kyphosis, Hypoplastic f...	OMIM:216340
Loeys-Dietz Syndrome 2	Retrognathia, Spondylolisthesis, Hydrocephalus, Abnormal sternum morphology, Scoliosis, Pectus ca...	OMIM:610168
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Pectus carinatum, Scoliosis, Dental crowding, High palate, Pectus excavatum, Kyphosi...	ORPHA:394
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Adducted thumb, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	OMIM:614643
Peters Plus Syndrome	Disproportionate short-limb short stature, Wide mouth, Intrauterine growth retardation, Long phil...	ORPHA:709
1P36 Deletion Syndrome	Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Hip dysplasia, Narrow mo...	ORPHA:1606
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Microphthalmia, Syndromic 1	Kyphoscoliosis, Orofacial cleft, High, narrow palate, Radial deviation of finger, Narrow chest, T...	OMIM:309800
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Narrow mouth, Microgna...	ORPHA:2166
Marfan Syndrome	Retrognathia, High, narrow palate, Abnormal zygomatic bone morphology, Spondylolisthesis, Meningo...	ORPHA:558
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Short philtrum, Hydrocephalus, Hyperextensibility of the finger joints, 2-3 t...	ORPHA:163979
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Dental crowding, Myelomeningocele,...	OMIM:219000
Dextrocardia	Hydrocephalus, Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Alstrom Syndrome	Polydactyly, Scoliosis, Gingivitis, Abnormality of the dentition, Kyphosis, Hypergonadotropic hyp...	OMIM:203800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Kyphosis, Broad philtrum, Intrauterine growth retardation, Ventriculomegaly, Sho...	OMIM:619475
Chromosome Xq26.3 Duplication Syndrome	Widely spaced teeth, Kyphosis	OMIM:300942
Atelis Syndrome 2	Thick lower lip vermilion, Sacral dimple, High palate, Kyphosis, Downturned corners of mouth, Mic...	OMIM:620185
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Hypoplasminogenemia	Periodontitis, Hydrocephalus, Dandy-Walker malformation, Gingival overgrowth, Gingivitis, Cervicitis	ORPHA:722
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Lateral ventricle dilatation, Long philtrum, Short 5th finger, Hydrocephalus, Scolio...	OMIM:607872
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Cleft soft palate, Hydrocephalus, Hypoplasia of the ovary, Short stature, Downturned...	OMIM:619321
Costello Syndrome	Thick lower lip vermilion, Barrel-shaped chest, Hydrocephalus, Pectus carinatum, Hyperextensibili...	OMIM:218040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Azoospermia, Hydrocephalus, Cachexia, Scoliosis, Pectus excavatum, Growth delay,...	ORPHA:2072
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Hyperlordosis, Kyphosis	OMIM:128100
Primrose Syndrome	Delayed puberty, Pectus excavatum, Kyphosis, Short distal phalanx of finger, Ventriculomegaly, In...	OMIM:259050
Ciliary Dyskinesia, Primary, 43	Chronic sinusitis, Noncommunicating hydrocephalus	OMIM:618699
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Hypergonadotropic hypogonadism, Aplasia of the 1st metacarpal, Short stature, Comp...	OMIM:227646
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Male infertility, Chronic sinusitis, Communicating hydrocephalus	OMIM:244400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Scoliosis, Flexion contracture of finger, Kyphosis	ORPHA:88628
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Kyphosis, Hypergonadotropic hypogonadism, Dilated fourth ventric...	OMIM:212065
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus	OMIM:615219
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Femoral bowing, Median pseudocleft lip, Intrauterine growth retardation, Ventriculo...	OMIM:616462
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Thor...	ORPHA:268810
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Neurooculorenal Syndrome	Postnatal growth retardation, Aqueductal stenosis, Short 1st metacarpal, Short hallux, Hydrocepha...	OMIM:620305
Whipple Disease	Hydrocephalus, Cachexia, Erectile dysfunction	ORPHA:3452
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Monosomy 22Q13.3	Sacral dimple, Clinodactyly of the 5th finger, Dental crowding, Obesity, Malar flattening, Dental...	ORPHA:48652
Arachnoid Cyst	Encephalocele, Hydrocephalus, Sciatica, Back pain, Enlarged fossa interpeduncularis, Holoprosence...	ORPHA:2356
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Hydrocephalus, Hypoplastic pelvis, Cleft upper lip, Micrognathia, C...	OMIM:273395
Somatomammotropinoma	Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Thick lower lip vermilion, Widel...	ORPHA:314769
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis, Tongue atrophy	OMIM:211530
Stromme Syndrome	Preaxial polydactyly, Hydrocephalus, Micrognathia, Cleft palate, Wide mouth	OMIM:243605
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Macroglossia	ORPHA:65285
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Meckel Syndrome	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly,...	ORPHA:564
Pigmented Nodular Adrenocortical Disease, Primary, 1	Secondary amenorrhea, Truncal obesity, Kyphosis	OMIM:610489
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol...	ORPHA:2908
Williams-Beuren Syndrome	Kyphoscoliosis, Thick lower lip vermilion, Clinodactyly of the 5th finger, Dental malocclusion, H...	OMIM:194050
Fraser Syndrome 3	Hydrocephalus, Micrognathia, Cutaneous syndactyly, Short toe	OMIM:617667
Arachnoiditis	Hydrocephalus	ORPHA:137817
Oeis Complex	11 pairs of ribs, Hydrocephalus, Hemivertebrae, Myelomeningocele, Congenital hip dislocation, Sac...	OMIM:258040
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia	ORPHA:90065
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Sacral dimple, Hydrocephalus, Abnormal dental enamel morphology, Mandibular aplasia...	ORPHA:2556
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Kyphosis	OMIM:219080
Acromegaly	Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Thick lower lip vermilion, Widel...	ORPHA:963
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Kyphosis	OMIM:610475
Loeys-Dietz Syndrome 3	Retrognathia, Spondylolisthesis, Intervertebral disk degeneration, Abnormal sternum morphology, S...	OMIM:613795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Short humerus, Absent thumb, ...	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Cleft up...	OMIM:236670
Cowden Syndrome	Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Kyphosis, Short stature, Failure to th...	ORPHA:201
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia, Short stature	ORPHA:220295
Craniofacial Microsomia 1	Occipital encephalocele, Genu valgum, Transverse facial cleft, Hydrocephalus, Scoliosis, Hemivert...	OMIM:164210
Coffin-Siris Syndrome 12	Hip subluxation, Scoliosis, High palate, Pectus excavatum, Slender finger, Broad thumb, Failure t...	OMIM:619325
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Glossitis, Stomatitis, Growth delay, Failure to thrive, Smooth philtrum, Intrauter...	ORPHA:79282
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Failure to thrive	ORPHA:395
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Overlapping fingers, Kyphosis, Absent uvula	OMIM:619708
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive, Small for gestational age, Smooth philtrum	OMIM:277400
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Short long bone, Myelomeningocele, Congenital hip dislocation...	OMIM:306955
Rett Syndrome, Congenital Variant	Scoliosis, Thin upper lip vermilion, Kyphosis	OMIM:613454
Medulloblastoma	Hydrocephalus, Back pain	ORPHA:616
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Short stature, Chordee, Cleft palate, Colpocephaly	OMIM:309801
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Thick lower lip vermilion, Spondylolisthesis, Scolios...	OMIM:208400
Thoracoabdominal Syndrome	Hydrocephalus, Cleft upper lip, Cleft palate, Anencephaly	OMIM:313850
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, 11 pairs of ribs, Hydrocephalus, Dandy-Walker malformation,...	OMIM:615287
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal dental en...	ORPHA:2273
Mucopolysaccharidosis Type 2	Gingival overgrowth, Temporomandibular joint ankylosis, Communicating hydrocephalus, Irregularity...	ORPHA:580
Meningioma	Hydrocephalus, Neoplasm of the tongue, Impotence, Back pain, Obesity, Amenorrhea, Hypogonadotropi...	ORPHA:2495
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Kyphosis	OMIM:153400
Spondyloarthropathy, Susceptibility To, 1	Back pain, Sacroiliac arthritis, Kyphosis	OMIM:106300
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Scoliosis, Kyphosis, Short stature, Mild short stature	OMIM:301111
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism	ORPHA:91350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly, High, narrow palate	ORPHA:228308
Neurofibromatosis Type 1	Delayed puberty, Genu valgum, Abnormal hip bone morphology, Slender long bone, Hydrocephalus, Sco...	ORPHA:636
Townes-Brocks Syndrome	Delayed puberty, Abnormal vertebral morphology, Clinodactyly of the 5th finger, Triphalangeal thu...	ORPHA:857
Cockayne Syndrome Type 3	Scoliosis, Kyphosis, Enamel hypoplasia, Carious teeth, Mild postnatal growth retardation	ORPHA:90324
Proteus Syndrome	Macrodactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Asymmetry of the th...	ORPHA:744
Charge Syndrome	Hypoplasia of the ulna, Postnatal growth retardation, Delayed puberty, Scoliosis, Hemivertebrae, ...	OMIM:214800
Alagille Syndrome 1	Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Short d...	OMIM:118450
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Viss Syndrome	Rocker bottom foot, Retrognathia, Pectus carinatum, Pectus excavatum, Kyphosis, Arachnodactyly, B...	OMIM:619472
Sturge-Weber Syndrome	Hydrocephalus, Gingival overgrowth	ORPHA:3205
Pagod Syndrome	Abnormal clavicle morphology, Encephalocele, Meningocele, Abnormal rib morphology, Spina bifida, ...	ORPHA:991
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydrocephalus, Pseudoepiphyse...	OMIM:107480
Alkaptonuria	Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion	OMIM:203500
Hydrolethalus Syndrome 1	Anencephaly, Upper limb undergrowth, Dandy-Walker malformation, Postaxial hand polydactyly, Dupli...	OMIM:236680
Triosephosphate Isomerase Deficiency	Failure to thrive, Kyphosis	OMIM:615512
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus	ORPHA:25
Histiocytoid Cardiomyopathy	Hydrocephalus, Failure to thrive, Cleft palate	ORPHA:137675
Branchiooculofacial Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Proximal placement of thumb, Hyperl...	OMIM:113620
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Growth delay, Communicating hydrocephalus	OMIM:616084
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Macroglossia	OMIM:261740
Sotos Syndrome	Abnormal vertebral morphology, Delayed eruption of permanent teeth, Bilateral camptodactyly, Scol...	ORPHA:821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Everted lower lip vermilion, Micrognathia, Malar flattening, Ventriculomegaly	OMIM:253280
Cryptococcosis	Hydrocephalus, Prostatitis	ORPHA:1546
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Gaucher Disease	Delayed puberty, Hydrocephalus, Gingival bleeding, Short stature, Ventriculomegaly	ORPHA:355
17Q11 Microdeletion Syndrome	Delayed puberty, Diaphyseal dysplasia, Beaking of vertebral bodies T12-L3, Abnormality of the sph...	ORPHA:97685
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele	ORPHA:1571
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polydactyly, Aqueductal stenosis, Hydrocephalus, Everted lower lip vermilion, Broad thumb, Postax...	OMIM:619534
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy	ORPHA:637
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Exstrophy-Epispadias Complex	Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida	ORPHA:322
Alström Syndrome	Short finger, Abnormality of dental color, Decreased fertility in males, Delayed menarche, Gingiv...	ORPHA:64
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus	ORPHA:805
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

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 Mtf2

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 Mtf2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mtf2-PRC2 control of canonical Wnt signaling is required for definitive erythropoiesis.	Cell discovery (May 2018)	Mtf2^{tm1a(EUCOMM)Wtsi}	PMC5928144

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
Mtf2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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