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Gene: Mtf2 MGI:105050

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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:
Pcl2,  C76717,  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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the philtrum, Abnormality of the dentition, Abno... ORPHA:3268
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent... ORPHA:1858
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermilion, Obesity, G... OMIM:300602
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... ORPHA:40
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Filippi Syndrome
Postnatal growth retardation, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger cl... OMIM:272440
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Mcdonough Syndrome
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Pectus excavat... ORPHA:2471
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Tapered finger, Pectus excavatum, Kyphosis, Obesity, Pectus carinatum, Oligodontia... ORPHA:276630
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Parastremmatic Dwarfism
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectus carinatum, Irregular ve... OMIM:609223
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Three M Syndrome 2
Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Scapular winging, Lum... OMIM:612921
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Narrow mouth, Fa... OMIM:620007
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... OMIM:156530
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ... OMIM:155050
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Spondyloepiphyseal Dysplasia, Stanescu Type
Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Vertebral wedging, Platyspo... OMIM:616583
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... OMIM:144750
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Hall-Riggs Syndrome
Metaphyseal dysplasia, Brachydactyly, Kyphosis, Thick lower lip vermilion, Microdontia of primary... OMIM:234250
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebra... ORPHA:2180
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Ventriculomegaly, Short stature, Cryptorchidism, Cleft palate, Thin vermilion bord... OMIM:615502
Rubinstein-Taybi Syndrome 2
Syndactyly, Short stature, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Atkin-Flaitz Syndrome
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... ORPHA:1193
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Small for gestational age, Kyphosis, Pectus carinatum, Delayed ossification of car... OMIM:618392
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disp... OMIM:259440
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Dental malocclusion, ... OMIM:619719
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corner... ORPHA:1327
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Masa Syndrome
Short stature, Hyperlordosis, Kyphosis, Hydrocephalus, Ventriculomegaly, Adducted thumb OMIM:303350
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Becker Nevus Syndrome
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis OMIM:604919
Intellectual Developmental Disorder, X-Linked 19
Dental crowding, Small for gestational age, Kyphoscoliosis, Thick lower lip vermilion, Everted lo... OMIM:300844
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... OMIM:607326
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Short neck, High, narrow palate, Hydrocephalus, Ob... ORPHA:2183
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... OMIM:265900
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscolios... OMIM:612350
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Short stature, Dental malocclusion, Kyphoscoliosis OMIM:615541
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Hydroceph... ORPHA:254516
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami OMIM:141300
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorchidism, High pa... OMIM:618393
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r... OMIM:173800
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Micrognathia ORPHA:1538
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Three M Syndrome 1
Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp... OMIM:273750
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Femoral-Facial Syndrome
Micrognathia, Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of th... ORPHA:1988
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Short metacarpal, Small for gestational ... OMIM:216550
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis, Short stature, Congenital bilateral hip dislocation ORPHA:85288
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, High palate, Scoliosis OMIM:611225
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Short stature, Hyperlordosis, Micrognat... ORPHA:2522
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Adducted thumb, Hydrocele testis, Notched primary central incisor, Brachydactyly OMIM:620062
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal fo... ORPHA:2234
Temple Syndrome
Decreased testicular size, Short stature, Small for gestational age, Micrognathia, Overweight, Cr... OMIM:616222
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia... ORPHA:166108
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Harrod Syndrome
Arachnodactyly, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Abno... ORPHA:2115
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Failure to thrive, Hydrocephalus OMIM:129850
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala... OMIM:300863
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Abnormal carpal morphology, Short metatarsal, Coxa vara, Abnormal rib morpholog... ORPHA:93351
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Abnormality of the dentition, Kyphosis, Pectus carinatum, Scoliosis, Abnormal tes... ORPHA:1548
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis, Thin upper lip vermilion OMIM:609384
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Pectus carinatum, H... OMIM:300676
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition ORPHA:1008
Winchester Syndrome
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... OMIM:277950
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short ... ORPHA:582
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Short metacarpal, Short stature, Abnormal f... ORPHA:2980
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Genu valgum, Be... OMIM:255710
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... OMIM:605282
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, High, narrow palate, Hydrocephalus, Shoulder dislocation, Scoliosis, Ad... ORPHA:2181
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral... OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... OMIM:184252
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Short stature, Carious teeth, Pectus excavatum, Deep phi... ORPHA:2701
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate, Mild short... OMIM:618292
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Open bite... ORPHA:61
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis mo... ORPHA:2643
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Deep philtrum, Short metatarsal, Pectus carinatum, Cone-shaped epiphyses of the pro... OMIM:190350
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short stature, Dental crowding, Kyphosis, Cryptorchidism, Short met... OMIM:180870
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Obesity, Hypog... ORPHA:141333
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hydrocephalus, Small hand, Scoliosis OMIM:300884
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cerebellofaciodental Syndrome
Short stature, Short neck, Tapered finger, Cryptorchidism, Dental malocclusion, Shortening of all... OMIM:616202
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:763
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal... OMIM:210600
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... OMIM:301900
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Fried Syndrome
Hydrocephalus, High palate, Short philtrum, Scoliosis ORPHA:85335
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K... OMIM:619797
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Abnormal rib morphology, Cleft... ORPHA:1703
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ... OMIM:257850
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Hydrocephalus... OMIM:615630
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Abnormal form of the ver... ORPHA:628
Cole-Carpenter Syndrome 2
Microretrognathia, Short stature, Postnatal growth retardation, Kyphosis, Pectus excavatum, Hydro... OMIM:616294
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Short stature, Slender build, Kyphosis, Cryptorchidism, Narrow palate, Sho... ORPHA:364028
Gm1-Gangliosidosis, Type Iii
Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of lumbar ... OMIM:230650
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Thoracic hypoplasia, Postaxial polydac... OMIM:617866
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... ORPHA:2064
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endp... OMIM:612847
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Ventriculomegaly, Pectus carinatum ORPHA:319199
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Short stature, Micrognathia, Short neck, Hydrocephalus, Short philtrum, Abnormal o... ORPHA:1516
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Micrognathia, Short n... ORPHA:3082
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short stature, Rhizomelia, Micrognathia, Short neck, Kyphosis, Abnormality of the ... ORPHA:3098
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Short stature, Small for gestational age, Micrognathia, D... OMIM:610883
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Thoracic hypoplasia, Bowing of the legs, Hip joi... ORPHA:15
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted l... ORPHA:2429
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Malar prominence, Microgna... ORPHA:48431
Ck Syndrome
Dental crowding, Slender build, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Ma... OMIM:300831
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Short stature, Diaphyseal thickening ORPHA:1513
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Kyphosis, Hip dislocation, Small hand, Short foot, Scoliosis OMIM:300434
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short stature, Sandal gap, Pectus ex... OMIM:617877
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... ORPHA:2311
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Failure to thrive ORPHA:250994
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious t... ORPHA:377
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Severe short stature, Broad long bones, Micrognathia, Sh... OMIM:224400
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... OMIM:613982
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco... OMIM:313420
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... OMIM:154780
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morp... ORPHA:2319
Bethlem Myopathy 2
Kyphosis, Scapular winging, Hip dislocation, Scoliosis OMIM:616471
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Anterior rib... OMIM:269250
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Growth delay, Evert... ORPHA:505652
Zimmermann-Laband Syndrome 3
Kyphosis, Long hallux, Thick lower lip vermilion, Aplasia of the distal phalanx of the 5th toe, G... OMIM:618658
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin... ORPHA:3352
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ... OMIM:252605
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... ORPHA:1946
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... OMIM:113500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Aqueductal ... ORPHA:3035
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Short stature, Camptodactyly of finger, Micrognathia... ORPHA:3409
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Mi... ORPHA:2484
Mulibrey Nanism
Dental crowding, Short stature, Absent frontal sinuses, Thickened cortex of long bones, Hypoplast... OMIM:253250
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... OMIM:258850
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Short stature, Kyphosis, High, narrow palate, Split hand, Obesit... OMIM:618124
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Diastema, Short neck, Dental malocclusion, Malar flattening, Brachyd... ORPHA:436245
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Scoliosis OMIM:616756
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Dysosteosclerosis
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... OMIM:224300
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hydrocephalus, Platyspondyly, Hip d... ORPHA:2655
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... OMIM:616331
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Delayed puberty ORPHA:2598
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, Cryptorc... ORPHA:3121
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... OMIM:615633
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Dis... ORPHA:263463
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Micrognathia, Cryptorchidism, Hydrocephalus, Scoliosis, Long philtrum, Clinodac... OMIM:618577
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Slender long bone, Ab... ORPHA:1486
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Short palm, Mild postnatal growth retardation, Hypoplastic iliac wing,... OMIM:235510
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles, D... OMIM:619698
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... OMIM:600002
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature OMIM:616108
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus, Short stature OMIM:210350
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine ... ORPHA:1506
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Short stature, Cryptorchidism, Myelomeningocele, Obesity, Scoliosis,... ORPHA:94065
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Azoospermia,... OMIM:601076
Spondyloepiphyseal Dysplasia Congenita
Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, Bifid uvula, Barrel-shap... OMIM:183900
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Short stature, Toe syndactyly, Micrognathia, Postaxial... OMIM:241800
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... OMIM:609637
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High palate, Short p... ORPHA:254531
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Short st... ORPHA:2916
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Open bite, Kyphosis, Carious teeth, Cryptorchidism, Vertebral... ORPHA:2617
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Absent frontal sinuses, Increased density of long bo... OMIM:305620
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the... ORPHA:77300
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Dental malocclusion, 2-3 ... OMIM:269500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Everted lower ... OMIM:618067
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Momo Syndrome
Delayed eruption of teeth, Short stature, Short neck, Large for gestational age, Thick lower lip ... ORPHA:2563
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Cryptorchidism, Bell-shaped thorax, High palate, Scoliosis, Clinodactyly ORPHA:178148
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... OMIM:300882
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Dysostosis, Stanescu Type
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Hypopl... ORPHA:1798
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Micrognathia, Short neck, Tapered ... ORPHA:444072
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Small for gestational age, Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Shor... OMIM:615834
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... OMIM:119600
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:615777
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Short thorax, Platyspondyly, Narrow chest,... ORPHA:93274
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature, Coxa valga,... OMIM:269300
Schaaf-Yang Syndrome
Mandibular prognathia, Abnormality of the philtrum, Short stature, Rocker bottom foot, Tapered fi... OMIM:615547
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped ches... OMIM:607095
Momo Syndrome
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Obesity, T... OMIM:157980
Spondyloepiphyseal Dysplasia Congenita
Back pain, Short neck, Micrognathia, Glossoptosis, Barrel-shaped chest, Abnormally ossified verte... ORPHA:94068
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Diencephalic Syndrome
Hydrocephalus, Everted lower lip vermilion, Cachexia, Decreased body weight ORPHA:1672
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Narrow chest, Microdontia, Neonatal short-limb ... ORPHA:289
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Disprop... OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Hype... OMIM:615761
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... OMIM:601957
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Achondroplasia
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Neonatal short-limb short statu... OMIM:100800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Protruding tongue, Short neck, Cryptorchidism, Hydrocephalus, Alveolar ridge o... OMIM:612938
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Cryptorchid... ORPHA:96184
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Short stature, Br... ORPHA:2751
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Iliac crest serration, Small for gestational age, Short neck, Postnatal growth ret... OMIM:613320
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Widely spaced teeth, Narrow greater sciatic notch, ... OMIM:253220
Pycnodysostosis
Brachydactyly, Short stature, Delayed eruption of primary teeth, Micrognathia, Absent frontal sin... OMIM:265800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... ORPHA:93360
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... OMIM:302350
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo... ORPHA:137834
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip ve... ORPHA:583
Renpenning Syndrome
Mandibular prognathia, Severe short stature, Macrodontia, Cachexia, Abnormal thumb morphology, Hi... ORPHA:3242
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Open bite, Abnormal rib morphology, Abnorm... ORPHA:2097
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Scoliosis, Microdontia, ... OMIM:112240
Larsen-Like Syndrome
Short stature, Kyphoscoliosis, Dental malocclusion, Cleft palate, Radial deviation of the 4th fin... OMIM:608545
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Abnormality of th... ORPHA:210110
Achondrogenesis Type 1B
Severe short stature, Micrognathia, Short neck, Disproportionate short stature, Abnormal rib morp... ORPHA:93298
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Ep... ORPHA:1914
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorchidism, Hip dysplasia, High palat... OMIM:611890
Craniosynostosis 3
Hallux valgus, Dental malocclusion, Brachydactyly OMIM:615314
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis OMIM:309620
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Short stature, Sandal gap, Kyphosis, Cryptorchidism, Thick lower lip vermi... OMIM:300354
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contractur... ORPHA:1883
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Broad long bones, Hypoplastic ischia, Micrognathia, Short ne... ORPHA:1865
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Kyphosis, Vertebral wedging, Coxa vara, Pect... OMIM:259450
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Multiple rib fractures, Bowing of the long bones, Short sta... OMIM:616229
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Downturned corner... ORPHA:238750
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Abnormal form of the verteb... ORPHA:93262
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Myopathy, Myofibrillar, 8
Scapular winging, Micrognathia, Spinal rigidity, Pectus excavatum, Dental malocclusion, High pala... OMIM:617258
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb short stature, Dandy-... OMIM:225500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly, Abnormal palate morphology ORPHA:251046
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Micrognathia, Cryptorchidism, Hydrocephalus, Obesity, P... ORPHA:171839
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Microgn... OMIM:114300
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Scol... OMIM:300337
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Kleefstra Syndrome 2
Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula OMIM:617768
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Bifid uvula, Dandy-Walker... ORPHA:96170
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border, Short stature ORPHA:1532
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Micrognathia, Short neck, High, narrow palate, Hydrocephalus, Growth delay, Col... OMIM:620156
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Spinal rigidity, Micrognathia, Kyphosis, Short neck, Hip dislocation, Scoliosis, Increa... ORPHA:75840
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Abnormality... OMIM:109120
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus,... OMIM:616362
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossificati... ORPHA:93352
Genitopalatocardiac Syndrome
Micrognathia, Kyphosis, Non-midline cleft lip, Postaxial hand polydactyly, Cryptorchidism, Hydroc... ORPHA:2075
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesity, Downturned corners o... ORPHA:254525
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Hip dysplasia, Scol... OMIM:615290
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:2759
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Triploidy
Finger syndactyly, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Hydrocephalus... ORPHA:3376
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Micrognathia, Coxa valga, Dee... OMIM:619833
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, P... OMIM:619489
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... OMIM:300373
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Disloca... OMIM:265000
Axial Mesodermal Dysplasia Spectrum
Short stature, Micrognathia, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Gi... ORPHA:1834
Hajdu-Cheney Syndrome
Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... OMIM:102500
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Me... ORPHA:3219
Hypophosphatasia
Bowing of the long bones, Short stature, Failure to thrive in infancy, Abnormality of the dentiti... ORPHA:436
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Small for gestational age OMIM:618302
Schwartz-Jampel Syndrome
Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Decreased body weight, Pursed... ORPHA:800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism... ORPHA:3085
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Small for gestational age, Micrognathia, Postnatal growth retardation, Short neck, ... OMIM:614541
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Small for gestational age, Micrognathia, Kyphosis, Cryptorchidism, Short philtrum,... ORPHA:352490
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, High, narrow... ORPHA:536516
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, Short neck, Tibial bowing, High palate, Short philtrum, Clinodacty... ORPHA:251028
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con... OMIM:130060
Ritscher-Schinzel Syndrome 1
Syndactyly, Micrognathia, Missing ribs, Hydrocephalus, Hemivertebrae, Cleft palate, Intrauterine ... OMIM:220210
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis OMIM:300886
3C Syndrome
Finger syndactyly, Ventriculomegaly, Short stature, Micrognathia, Short neck, Kyphosis, High, nar... ORPHA:7
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... ORPHA:2920
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... OMIM:618469
Monosomy 18P
Short stature, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Pectus excavatum, Cleft p... ORPHA:1598
Edinburgh Malformation Syndrome
Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Downturned corners of mouth... ORPHA:1895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, Cleft palate, Growth de... ORPHA:85284
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Downturned corners of mouth, Thin vermilion bord... ORPHA:2983
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis ORPHA:85317
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly ORPHA:945
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Abnormal... ORPHA:666
Alexander Disease Type I
Cachexia, Hydrocephalus, Failure to thrive, Scoliosis ORPHA:363717
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,... OMIM:114290
Albers-Schönberg Osteopetrosis
Short stature, Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hydrocephal... ORPHA:53
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Odontogenic ... OMIM:109400
Williams-Beuren Region Duplication Syndrome
Short stature, Small for gestational age, Micrognathia, Diastema, Cryptorchidism, Hydrocephalus, ... OMIM:609757
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, High palate, Camptodactyly, Int... OMIM:614846
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Ky... ORPHA:1860
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Metatarsus adductus, Metaphyseal widenin... OMIM:182212
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Micrognathia, Hydrocephalus, Supernumerary ribs, Retrognathia, Dandy-Walker mal... ORPHA:163961
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
X-Linked Intellectual Disability, Cabezas Type
Short neck, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, Short statur... ORPHA:85293
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Short stature, Short neck, Pectus excavatum, Cryptorchidism... OMIM:610733
Infantile Sialic Acid Storage Disease
Abnormal thorax morphology, Hydrocephalus, Gingival overgrowth, High palate, Failure to thrive, M... OMIM:269920
Fanconi Anemia, Complementation Group S
Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clin... OMIM:617883
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossi... ORPHA:79107
Emanuel Syndrome
Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Ventriculomegaly, Delayed ... OMIM:609029
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Bilateral cryptorchidism, Hip dysplasia, Macrodontia of permanent maxillary centr... ORPHA:466722
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, Dental maloccl... OMIM:619293
Subaortic Stenosis-Short Stature Syndrome
Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Synostosis of... ORPHA:3191
Gracile Bone Dysplasia
Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Failure to thrive,... OMIM:602361
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Wieacker-Wolff Syndrome
Short stature, Proximal placement of thumb, Hyperlordosis, Micrognathia, Kyphosis, Short neck, Hi... OMIM:314580
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Alobar holoprosencephaly, Kyphosis, Cryptorchidism, High palate, Sho... OMIM:615433
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... ORPHA:2769
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ... ORPHA:192
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Metaphyseal wid... OMIM:618476
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Micrognathia, Short neck, Short thorax, Short foot,... ORPHA:93299
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Short neck, Metatarsu... OMIM:123450
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Brachydactyly, Short stature, Selective tooth agenesis, Premature ovarian ins... ORPHA:2959
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Microgna... OMIM:618150
Van Maldergem Syndrome 1
Irregular dentition, Sacral dimple, Tented upper lip vermilion, Short fourth metatarsal, Microgna... OMIM:601390
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, M... OMIM:210720
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scap... OMIM:200600
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of th... ORPHA:1788
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Micrognathia, Kyphosis, Hip dislocatio... OMIM:618291
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus add... OMIM:227330
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... ORPHA:140
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Trisomy 17P
Short stature, Micrognathia, Short neck, Tapered finger, Hydrocephalus, Orofacial cleft, Cleft pa... ORPHA:261290
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal clavicle morphology, Abnormal dental morph... ORPHA:568
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thoracolumbar scoliosis, Broad h... OMIM:618019
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Hip ... OMIM:301041
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Short st... ORPHA:1855
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Zimmermann-Laband Syndrome
Hallux valgus, Micrognathia, Short neck, Supernumerary tooth, Gingival fibromatosis, Cleft palate... ORPHA:3473
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Cryptorchidism, Hydrocephalus, Hemivertebrae, Growth delay, Holoprosencephaly, ... ORPHA:77298
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Intrauterine growth retardation OMIM:618237
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Short stature, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis,... OMIM:614856
49,Xxxxy Syndrome
Mandibular prognathia, Short neck, Holoprosencephaly, Clinodactyly of the 5th finger, Short statu... ORPHA:96264
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hydrocephalus, Scoliosis, Intrauterine growth retardation, Open mouth... OMIM:616355
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal thorax morphology, Abn... ORPHA:73230
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... OMIM:276950
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hig... ORPHA:3258
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Faciocardiomelic Syndrome
Micrognathia, Large for gestational age, Cuboid-shaped vertebral bodies, Dental malocclusion, Wid... OMIM:612731
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, Hydrocephalus, High palat... OMIM:612940
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Sjögren-Larsson Syndrome
Kyphosis, Short stature, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Pectus carinatum, High palate, Wi... OMIM:303600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Severe short stature, Abnormal dental enamel morphology, Kyphos... ORPHA:1005
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Short stature, Arachnodactyly, Sandal gap, Carious teeth, Kyphosis, Pectus excav... OMIM:617602
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Pectus carinatum, High palate, Microdontia, Arachnodactyly, S... ORPHA:536467
Van Maldergem Syndrome 2
Irregular dentition, Sacral dimple, Tented upper lip vermilion, Short fourth metatarsal, Microgna... OMIM:615546
Zimmermann-Laband Syndrome 2
Short stature, Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick verm... OMIM:616455
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Scoliosis, Radial dysplasia OMIM:617244
Distal Triplication 15Q
Arachnodactyly, Micrognathia, Large for gestational age, Kyphosis, Hydrocephalus, Hydrocele testi... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Ventriculomegaly, Short femur, Fractured radius, Small for gestational ag... OMIM:616897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Pectus excavatum, Kyphosis, Micrognathia OMIM:618272
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... ORPHA:1488
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bow... OMIM:610915
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis, Flexion contractu... OMIM:618484
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, Premature ovarian insufficiency, Overlapping toe, Endometriosis, Abnormality of... ORPHA:363444
Peters-Plus Syndrome
Short lingual frenulum, Proximal placement of thumb, Short neck, Micrognathia, Hypoplasia of the ... OMIM:261540
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Abnormal ... ORPHA:3068
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Short stature, Micrognathia, Split hand, Abnormal rib morpholog... ORPHA:2145
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Cryptorchidism, Hydrocephalus, Dental malocclusion, Slender toe, High palate, Dan... OMIM:310400
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Short stature, Rhizomelia, Bowing of the... OMIM:613848
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Short stature, Hydrocephalus, High palate, Prominent fingertip pads, Op... OMIM:300558
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypogonadism, Decreased testicular size ORPHA:1875
Stickler Syndrome, Type I
Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Submucous ... OMIM:108300
48,Xxxy Syndrome
Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Abnormal dental enamel morphol... ORPHA:96263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Short stature, Micrognathia, Dental malocclusion, Thin ribs, ... OMIM:614008
Cerebrofaciothoracic Dysplasia
Ventriculomegaly, Short stature, Cleft upper lip, Short neck, Hemivertebrae, Rib fusion, Cleft pa... ORPHA:1394
Pelger-Huet Anomaly
Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper limb undergrowth, Polydactyly,... OMIM:169400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft ORPHA:324416
Lateral Meningocele Syndrome
Vertebral fusion, Dental crowding, Short stature, Short neck, Micrognathia, Kyphosis, Pectus exca... OMIM:130720
Marden-Walker Syndrome
Arachnodactyly, Micrognathia, Short neck, Kyphosis, High, narrow palate, Postnatal growth retarda... OMIM:248700
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased body weight, R... OMIM:618265
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short... OMIM:616894
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... ORPHA:77301
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Short s... ORPHA:1908
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Hydrocephalus, Abnorma... ORPHA:3301
1Q44 Microdeletion Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Short stature, Micrognathia, Hydrocephalus, Growth del... ORPHA:238769
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc... OMIM:180849
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... ORPHA:457395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... OMIM:619951
Baralle-Macken Syndrome
Kyphosis, Obesity, High, narrow palate, Tapered finger OMIM:619255
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Irregular c... OMIM:252600
Myopathy, Centronuclear, 2
Scapular winging, Hyperlordosis, Kyphosis, High palate, Scoliosis, Intrauterine growth retardation OMIM:255200
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... ORPHA:236
Tetrasomy 5P
Overlapping toe, Short hallux, Micrognathia, Postnatal growth retardation, Short neck, Long finge... ORPHA:3309
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Ventriculomegaly, Overlapping toe, Proximal placement of thumb, Tapered... OMIM:616737
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... OMIM:142900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... OMIM:618727
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl... OMIM:616580
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Short stature, Micrognathia, Hype... OMIM:618443
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocep... ORPHA:2437
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... ORPHA:1647
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Dental mal... OMIM:300867
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Mucopolysaccharidosis Type 1
Sinusitis, Short stature, Hydrocephalus, Thick lower lip vermilion, Split hand, Spinal canal sten... ORPHA:579
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compre... OMIM:617952
Apert Syndrome
Mandibular prognathia, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger syndac... OMIM:101200
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Short phalanx of... OMIM:249420
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... OMIM:620076
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Abnormal dental enamel morphology, Arachnodactyly, Abnormality o... ORPHA:96169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Femur fracture, Carious teeth, Hydrocephalus, Flared met... OMIM:259700
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Tapered finger OMIM:618512
Osteogenesis Imperfecta, Type Xi
Short stature, Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave verte... OMIM:610968
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Pectus excavatum, Kyphosis, Bilateral cryptorchidism, Hydrocephal... ORPHA:3042
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, High palate, Ventriculomegaly, Dislocated radial head OMIM:304100
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Scoliosi... ORPHA:329178
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Failure to thrive in infancy,... OMIM:618975
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft pal... OMIM:619184
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Trisomy 13
Median cleft lip, Abnormality of the dentition, Kyphosis, High, narrow palate, Postaxial hand pol... ORPHA:3378
Cerebrocostomandibular Syndrome
Hydranencephaly, Short stature, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningoce... ORPHA:1393
Fg Syndrome Type 1
Finger syndactyly, Sacral dimple, Broad toe, Dental crowding, Short stature, Micrognathia, Abnorm... ORPHA:93932
Myofibrillar Myopathy 10
Mandibular prognathia, Kyphosis, Flexion contracture of finger, Sandal gap OMIM:619040
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Obesity, Downturned corne... ORPHA:464282
Kabuki Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, High palate, Widely spaced... ORPHA:2322
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Postaxial... OMIM:302960
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... ORPHA:2215
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Short neck, Pectus carinatum, Shoulder dislocation, Narrow chest, Microdontia, Disl... OMIM:245600
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Hamamy Syndrome
Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Micrognathia, Tapered fin... OMIM:611174
Crisponi Syndrome
Camptodactyly of finger, Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum ORPHA:1545
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... ORPHA:2167
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Dental ma... OMIM:269880
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Arthrogryposis, Distal, Type 5
Short stature, Arachnodactyly, Pectus excavatum, Kyphosis, Absent phalangeal crease, High palate,... OMIM:108145
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Short stature, Short neck, Open bite, Abnormality of the... OMIM:115150
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Kyphosis, Scoliosis OMIM:300861
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... OMIM:602535
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Coxa valga, Vertebral ar... ORPHA:85184
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus, Obesity OMIM:616521
Methylcobalamin Deficiency Type Cble
Syndactyly, Postnatal growth retardation, Hydrocephalus, Scoliosis, Intrauterine growth retardati... ORPHA:2169
Alagille Syndrome
Hypoplasia of the ulna, Failure to thrive, Micrognathia, Cryptorchidism, Abnormal rib morphology,... ORPHA:52
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasi... ORPHA:364577
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Crypto... OMIM:619718
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... OMIM:613680
Hurler Syndrome
Short stature, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hyp... OMIM:607014
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Pectus excavatum, Hydrocephalus, Intrauterine growth retardation, Ventri... ORPHA:272
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Congenital Toxoplasmosis
Intrauterine growth retardation, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Syndactyly, Hydrocephalus, Polydactyly, Ventriculomegaly OMIM:602501
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... OMIM:154400
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ... ORPHA:251014
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Failure to thrive, Arachnodactyly, Camptod... ORPHA:2462
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Cachexia, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... ORPHA:1969
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... OMIM:615560
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Short stature, Small for gestational age, Micrognathia, Short neck, Postnatal g... OMIM:257300
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hydrocephalus, Narrow mouth ORPHA:83473
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... ORPHA:89936
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Intrauterine ... ORPHA:90322
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormal rib morphology, Disproportionate short-limb short stature, Intrauterine ... ORPHA:2772
Cog1-Cdg
Smooth philtrum, Irregularity of vertebral bodies, Thin upper lip vermilion, Rhizomelia, Kyphosco... ORPHA:263508
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Kyphoscoliosis, Cleft uppe... OMIM:607371
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Kyphosis, Cryptorchidism, Dilated third ventricle, Small hand, Hydroce... ORPHA:500055
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocation, Pectus excav... ORPHA:171436
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... ORPHA:175
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodi... OMIM:215140
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor OMIM:616390
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:216400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... OMIM:616914
Kleeblattschaedel
Hydrocephalus OMIM:148800
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Kyphosis, Thick vermilion border, Ever... OMIM:300280
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Pectus ... OMIM:609008
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Clinodactyly, Crypto... ORPHA:1724
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Cryp... ORPHA:2588
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermil... ORPHA:85321
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Localized hypoplasia of denta... ORPHA:73223
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Micrognathia, Abnormality of the dentition, Kyphosis, Unilateral rad... ORPHA:476126
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Short neck, Kyphosis, Cryptorchidism... ORPHA:254346
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ... OMIM:271510
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Hydrocephalus, ... ORPHA:93473
Flynn-Aird Syndrome
Carious teeth, Kyphosis, Cachexia, Scoliosis ORPHA:2047
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Brachydactyly, Scapular winging, Dental crowding, Sandal gap, Micrognat... OMIM:617061
Raine Syndrome
Mandibular prognathia, Natal tooth, Bowing of the long bones, Short stature, Micrognathia, Short ... OMIM:259775
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus,... OMIM:620157
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Dandy-Wal... OMIM:220220
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae... OMIM:224690
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Cat-Eye Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Short stature, Hip dysplasia ORPHA:195
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis... ORPHA:1300
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi... ORPHA:2789
Monosomy 18Q
Mandibular prognathia, Short stature, Arachnodactyly, Kyphoscoliosis, Tapered finger, Pectus exca... ORPHA:1600
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing... OMIM:117650
Xylt1-Cdg
Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth delay, Truncal obesity, Short ... ORPHA:370930
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Gm1-Gangliosidosis, Type I
Severe short stature, Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vert... OMIM:230500
15Q14 Microdeletion Syndrome
Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, L... ORPHA:261190
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... ORPHA:261344
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Shor... OMIM:612582
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Hydrocephalus, Scoliosis ORPHA:99947
Marinesco-Sjogren Syndrome
Short metacarpal, Short stature, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Short meta... OMIM:248800
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Cleft palate, Thin ... OMIM:312150
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... OMIM:268310
2P15P16.1 Microdeletion Syndrome
Enlarged thorax, High palate, Tapered finger, Scoliosis, Narrow mouth, Retrognathia, Smooth philt... ORPHA:261349
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M... OMIM:263750
Diabetic Embryopathy
Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Hydrocephalus, Cleft palate, Spinal dys... ORPHA:1926
Endocrine-Cerebroosteodysplasia
Micrognathia, Preaxial polydactyly, Tibial bowing, Narrow chest, Holoprosencephaly, Thick upper l... OMIM:612651
Pentalogy Of Cantrell
Encephalocele, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Hydrocephalus, Cleft... ORPHA:1335
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Kyphosis, Scoliosis ORPHA:3454
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Hydrocephalus, Short foot, H... ORPHA:250989
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Increased intervertebral space, Narrow greater sciatic notch, Abnormality of the ce... ORPHA:508533
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydroceph... ORPHA:3412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Ventriculomegaly OMIM:603387
Hydrolethalus
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Hydrocepha... ORPHA:2189
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353277
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Short stature, Clef... OMIM:610443
Marden-Walker Syndrome
Failure to thrive, Severe short stature, Arachnodactyly, Camptodactyly of finger, Micrognathia, M... ORPHA:2461
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Cryptorchidism, Hydrocephalus, C... ORPHA:1812
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Micrognathia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Short stature, Failure to thrive in infan... OMIM:163950
Mend Syndrome
Microretrognathia, Sacral dimple, Dandy-Walker malformation, Short stature, Broad hallux, Overlap... OMIM:300960
Radio-Renal Syndrome
Severe short stature, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Ab... ORPHA:3015
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Postaxial polydactyly, Hydrocephalus, Growth delay, Hip dysplasia, Intrauterin... OMIM:614576
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... ORPHA:53271
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide... OMIM:143095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Overlapping toe, Proximal... ORPHA:487796
Sialidosis Type 2
Kyphosis, Short thorax, Short stature, Pectus carinatum ORPHA:87876
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ... OMIM:611134
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Hydrocephalus, Disproportionate... OMIM:616482
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Patellar aplasi... ORPHA:96061
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Short stature, Broad hallux, Carious teeth, Avascular necrosis of t... ORPHA:353281
Mend Syndrome
Sacral dimple, Short stature, Broad hallux, Overlapping toe, Asymmetry of the mouth, Micrognathia... ORPHA:401973
Sanjad-Sakati Syndrome
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Pos... ORPHA:2323
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Hydrocephal... OMIM:309900
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima... OMIM:133540
Doors Syndrome
Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Downturned corners of mouth, W... ORPHA:79500
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth, Dental malocclusion OMIM:619149
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Short stature, Short neck, Micro... ORPHA:96121
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Short neck, Absent thumb, Hydrocephalus, Bilateral radial aplasia... OMIM:300514
Kbg Syndrome
Short palm, Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Short stature,... OMIM:148050
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Pectus carinatum OMIM:614898
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis, Ventriculomegaly OMIM:606612
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Deep philtrum, Cryptorch... ORPHA:404440
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birt... OMIM:166220
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Spinal rigidity, Microgna... OMIM:620351
Hajdu-Cheney Syndrome
Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Downturned corners of mouth, ... ORPHA:955
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... OMIM:259710
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Cryptorc... OMIM:610829
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Prader-Willi Syndrome
Downturned corners of mouth, Short palm, Syndactyly, Short stature, Hypogonadotropic hypogonadism... OMIM:176270
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hydrocephalus, Hemivertebrae, High pala... OMIM:104350
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Sacral dimple, Prominent fingertip pads, Broad hallux phalanx, Sandal g... ORPHA:363611
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver... ORPHA:261318
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... ORPHA:438216
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick ve... OMIM:304340
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Kyphoscolio... OMIM:231070
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Short neck, Aplastic clavicle, Postaxial polydactyl... OMIM:616546
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Narrow palate, Femoral bowing,... OMIM:617022
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bila... OMIM:619557
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... ORPHA:235
Bruck Syndrome
Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Sialidosis Type 1
Short stature, Kyphosis, Thick lower lip vermilion, Short thorax, Abnormal form of the vertebral ... ORPHA:812
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth... ORPHA:261250
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... OMIM:277590
Chromosome 17P13.1 Deletion Syndrome
Short palm, Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thu... OMIM:613776
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Cuta... OMIM:151050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Hand polydactyly, Foot polydactyly,... ORPHA:60040
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... OMIM:607361
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Pectus excavatum, Hydrocephalus, Downturned corners of mouth, Wide mout... OMIM:618590
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature OMIM:618174
Craniofacial Dyssynostosis With Short Stature
Short stature, Cryptorchidism, Hydrocephalus, Malar flattening, Ventriculomegaly OMIM:218350
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Irregular, rachitic-like metaphyses, Subperiosteal bone... ORPHA:289157
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow palate ORPHA:207
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutaneous finger synd... OMIM:211380
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scolio... OMIM:181405
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... OMIM:617895
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Everted lower li... OMIM:601499
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... ORPHA:63259
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Cleft palate, Thin ribs, Short finge... OMIM:253290
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum, Failure to thrive OMIM:608776
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Abnormal metaphysis morphology, Short stature, Narrow chest ORPHA:1861
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Open mouth, Slender finger, Dandy-Walker malformation OMIM:147800
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Apla... ORPHA:85199
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... ORPHA:2062
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Hip dislocation, High palate, Scoliosis, Increased laxity of fingers, ... OMIM:254090
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Noonan Syndrome 14
Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, High, narrow palate, Cry... OMIM:619745
Aymé-Gripp Syndrome
Thin upper lip vermilion, Ventriculomegaly, Short stature, Rocker bottom foot, Tapered finger, Po... ORPHA:1272
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Growth delay, Macroglossia, Everted ... ORPHA:261144
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Rett Syndrome
Short stature, Cachexia, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis OMIM:312750
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Wide capital femoral epiphyses, Shor... ORPHA:1830
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Kyphosis, Mild fetal ventriculomegaly, Scoliosis, Cer... OMIM:617190
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, Hyd... OMIM:264480
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Intrauterine growth... OMIM:225790
Opitz-Kaveggia Syndrome
Dental crowding, Micrognathia, Short neck, Prominent fingertip pads, Syndactyly, Lumbar hyperlord... OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 65
Short palm, Tented upper lip vermilion, Micrognathia, Noncommunicating hydrocephalus, Downturned ... OMIM:619320
Pseudoaminopterin Syndrome
Micrognathia, Orofacial cleft, High palate, Short philtrum, Microdontia, Synostosis of carpal bon... ORPHA:221120
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Rib fusion, Obesity, Cleft palate, Hand polydactyly, Scoliosis, Failure to thrive, ... ORPHA:261197
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short p... ORPHA:464738
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Ventriculomegaly, Pectus carinatum ORPHA:500180
Scarf Syndrome
Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternu... ORPHA:3134
W Syndrome
Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal... ORPHA:2804
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Ab... ORPHA:249
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, Pectus c... OMIM:616449
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Long thorax, Short ... OMIM:616268
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Postnatal growth retardation, Coat hanger s... ORPHA:254534
Mirage Syndrome
Overlapping fingers, Short stature, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial cl... OMIM:617053
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma... ORPHA:96334
Gm1 Gangliosidosis
Mandibular prognathia, Coarse metaphyseal trabecularization, Short stature, Camptodactyly of fing... ORPHA:354
Lopes-Maciel-Rodan Syndrome
Short foot, Kyphosis, Small hand, Scoliosis OMIM:617435
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Ventriculomegaly, Tented upper lip vermilion, Rocker bot... ORPHA:521426
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postnatal growth retardation, Postaxial h... OMIM:605627
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis, Narrow mouth, Male hypogonadism OMIM:615381
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... ORPHA:3472
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Lar... OMIM:213980
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, De... OMIM:609128
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum,... ORPHA:828
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Abnormal... OMIM:314390
Joubert Syndrome
Encephalocele, Hydrocephalus, Orofacial cleft, Abnormal form of the vertebral bodies, Hand polyda... ORPHA:475
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ... OMIM:616788
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... OMIM:614424
Jacobsen Syndrome
Micrognathia, Short neck, Missing ribs, Pectus excavatum, Cryptorchidism, Hydrocephalus, Holopros... OMIM:147791
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly... OMIM:305600
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard pa... OMIM:612863
Tenorio Syndrome
Mandibular prognathia, Hydrocephalus, Wide mouth, Macroglossia, Recurrent aphthous stomatitis, Sc... OMIM:616260
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Short fourth metatarsal, Micrognathia, Short ... OMIM:619841
Kagami-Ogata Syndrome
Pursed lips, Thoracic hypoplasia, Kyphoscoliosis, Micrognathia, Short neck, Postnatal growth reta... ORPHA:254519
Adams-Oliver Syndrome 2
Micrognathia, Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle ... OMIM:614219
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Obesity,... ORPHA:98855
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydactyly, Foot polydactyly, ... ORPHA:220493
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Widely spaced teeth, Campto... ORPHA:459061
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Cryptorchidism, Lateral ventricle... OMIM:619244
Phelan-Mcdermid Syndrome
Sacral dimple, Micrognathia, Dental malocclusion, 2-3 toe syndactyly, High palate, Widely spaced ... OMIM:606232
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... OMIM:602200
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... OMIM:207410
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
Bloom Syndrome
Syndactyly, Small for gestational age, Decreased fertility in females, Postnatal growth retardati... OMIM:210900
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral fe... OMIM:239000
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Micrognathia, Equinus calcaneus, Shoulder dislocation, High palate, Periodont... ORPHA:536532
Megalocornea-Intellectual Disability Syndrome
Short stature, Micrognathia, Tapered finger, Kyphosis, High palate, Short philtrum, Scoliosis, Ev... ORPHA:2479
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
B4Galt1-Cdg
Thin upper lip vermilion, Small for gestational age, Hydrocephalus, Long philtrum, Dandy-Walker m... ORPHA:79332
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly, Obesity, Narrow mouth ORPHA:261222
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... ORPHA:98863
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Microgna... OMIM:617527
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia... OMIM:263520
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... OMIM:311200
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb OMIM:307000
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of the distal interph... OMIM:607015
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Microgna... OMIM:208150
Multiple Sulfatase Deficiency
Broad hallux, Short stature, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF protein c... OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus OMIM:613155
Aicardi Syndrome
Prominence of the premaxilla, Dandy-Walker malformation, Block vertebrae, Proximal placement of t... OMIM:304050
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial deviation of finger... OMIM:609944
Desmosterolosis
Failure to thrive, Severe short stature, Micrognathia, Metatarsus adductus, Hydrocephalus, Submuc... ORPHA:35107
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb ORPHA:2182
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, Ab... OMIM:123500
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Macroglos... ORPHA:370959
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Flexion contracture of finger, Exaggerated cupid's bow, Overlapping toe, Postnatal grow... ORPHA:254528
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Spin... OMIM:277600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Tap... OMIM:239300
Osteogenesis Imperfecta, Type Xvii
Short stature, Bowed humerus, Kyphoscoliosis, Thin long bone diaphyses, Hip dislocation, Platyspo... OMIM:616507
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... ORPHA:2554
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange... OMIM:300166
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, Hydrocele t... OMIM:615108
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Hydrocephalus, Hydrocele... OMIM:613603
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Broad ribs, Flaring of rib cage OMIM:612852
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Increased femoral anteversion, Extra-axi... OMIM:619005
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Camptodactyly, Micrognathia OMIM:608257
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Obesity, Genu valgum, Thick verm... OMIM:618493
47,Xyy Syndrome
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermi... ORPHA:8
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Pontocerebellar Hypoplasia, Type 7
Micrognathia, Cryptorchidism, Deep philtrum, Hydrocephalus, Pectus carinatum, High palate, Tongue... OMIM:614969
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Hol... ORPHA:818
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Hydrocephalus, Growth delay, Decreased body weight OMIM:614886
Nasu-Hakola Disease
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly ORPHA:2770
Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Obesity,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Obesity,... ORPHA:98853
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Narrow mouth, Complete duplicat... ORPHA:59315
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... ORPHA:3404
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Broad hallux, Aplasia/hypoplasia involving bones of ... ORPHA:2369
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Overlapping toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly, High palate... OMIM:617822
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Hemivertebrae, Dysplastic sacrum, Short stature, Cryptorch... OMIM:134780
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydactyly, Scoliosis ORPHA:220497
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, High palate, Foot oligodactyly, Apla... OMIM:276820
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Narrow mouth, Abnormal rib morphology, Cleft palate, Fem... ORPHA:83
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Short neck, Postnatal growth retardat... OMIM:300966
Atypical Rett Syndrome
Kyphosis, Small hand, Growth delay, Short foot, Scoliosis ORPHA:3095
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis ORPHA:702
Magel2-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Short stature, Kyphosis, Cryptorchidism, Small hand, Increased body wei... ORPHA:398069
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Communicating hydrocephalus, Arachnodactyly, Hyperlordosis, Large for gest... OMIM:617011
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate, Micrognathia OMIM:243440
Cardiofaciocutaneous Syndrome
Short stature, Abnormal morphology of ulna, Failure to thrive in infancy, Short neck, Pectus exca... ORPHA:1340
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Metatarsus adduct... ORPHA:300570
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, Hydrocele t... OMIM:615109
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Short stature, Rhizomelia, Femoral retroversion, Bow... OMIM:610682
Jaberi-Elahi Syndrome
Kyphosis, Pectus carinatum, Scoliosis, Triangular mouth, Failure to thrive, Dandy-Walker malforma... OMIM:617988
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis... OMIM:619194
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, ... OMIM:210710
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Kyphosis, Capitate-hamate fusi... OMIM:304150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpa... ORPHA:95699
Martin-Probst Syndrome
Short stature, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide... OMIM:300519
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... OMIM:312870
Aicardi Syndrome
Prominence of the premaxilla, Ventriculomegaly, Block vertebrae, Cleft upper lip, Missing ribs, R... ORPHA:50
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Pectus excavatum, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses, High palate... OMIM:618162
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... OMIM:209885
Scarf Syndrome
Barrel-shaped chest, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Pectus ca... OMIM:312830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis OMIM:607155
Catel-Manzke Syndrome
Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th fi... OMIM:616145
Ramon Syndrome
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios... OMIM:266270
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Short stature, Hydrocephalus ORPHA:31
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectu... OMIM:614976
Rabin-Pappas Syndrome
Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Hydrocephalus, Obesity, Malar ... OMIM:620155
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High... ORPHA:352665
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Communicating hydrocephalus, Lumbar hyperlordosis, Arachnodactyly, Kyphosc... ORPHA:457359
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Cachexia, Spina bifida, Cryptorchidism... ORPHA:3380
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Dental malocclusion, Abnormal femur morphology, Abnormal facial ... ORPHA:562
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Tarp Syndrome
Finger syndactyly, Failure to thrive, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pe... ORPHA:2886
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, S... ORPHA:534
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Pectus excavatum, Kyphosis, High, narrow palate, Thi... OMIM:162300
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Deep philtrum, Micrognathia ORPHA:1237
Tetrasomy 9P
Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short philtr... ORPHA:3310
Micro Syndrome
Short stature, Micrognathia, Kyphosis, Cryptorchidism, High palate, Short philtrum, Scoliosis, De... ORPHA:2510
Zttk Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, High palate, Short philtru... OMIM:617140
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, Pectus carinatum, High palate, Short philtrum, Long toe, ... ORPHA:3063
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Kyphosis, Cleft lip, Cryptorchidism, Cleft palate, Camptodactyly, Clinodactyly of t... OMIM:619123
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Cleft lip, Postaxial polydactyly, Lat... OMIM:617925
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Adducted thumb ORPHA:275543
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Peho Syndrome
Ventriculomegaly, Tapered finger, Hydrocephalus, Gingival overgrowth, Abnormal upper lip morpholo... ORPHA:2836
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, De... OMIM:182210
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Short stature, Short neck, Postnatal growth retardation, Short thora... ORPHA:168577
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Exaggerated cupid's bow, Micrognathia, Aqueduc... OMIM:619512
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Scoliosis, C... ORPHA:457284
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bo... OMIM:618188
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... OMIM:149730
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity ORPHA:352447
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Supernumerary to... OMIM:617088
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Holoprosencephaly
Encephalocele, Brachydactyly, Median cleft lip, Failure to thrive in infancy, Bilateral cleft lip... ORPHA:2162
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Bifid sternum ORPHA:63260
Koolen-De Vries Syndrome Due To A Point Mutation
Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Abnormal dental morphology,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Abnormal dental morphology,... ORPHA:363958
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Spinal rigidity, Hydrocephalus, Cleft palate, Macroglossia, Scoli... OMIM:613150
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker mal... OMIM:217090
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Kyphosis, Intrauterine growth retardation OMIM:619909
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth... ORPHA:1780
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Dandy-Walker malformation, S... OMIM:249000
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Narrow chest, Dandy-Walker malformation, G... OMIM:264090
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Short... OMIM:278250
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Oligodontia ORPHA:324737
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Baller-Gerold Syndrome
Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abnormal vertebral morpholo... OMIM:218600
Fucosidosis
Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae, Abnormality of the dentition ORPHA:349
Radial Aplasia, X-Linked
Absent radius, Hydrocephalus OMIM:312190
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Postencephalitic Parkinsonism
Camptocormia, Kyphosis, CSF lymphocytic pleiocytosis, Abnormal CSF protein concentration, Open mouth ORPHA:97349
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... OMIM:269150
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility, Hydrocephalus, Clubbing, Chronic s... ORPHA:244
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Short stature, Hydrocephalus, High palate, Abnormal hip bone morphology ORPHA:2720
Cdags Syndrome
Kyphosis, Cleft palate, Short ribs, Short clavicles, Malar flattening OMIM:603116
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non... ORPHA:2232
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Short stature, Communicating hydrocephalus, Micrognathia ORPHA:1064
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly, Scoliosis ORPHA:2318
Alexander Disease
Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocephalus, High palate, Scoliosis, ... ORPHA:58
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Cleft lip, Hemivertebrae, Narrow palate, Cleft palate, Contr... OMIM:618223
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Missing ribs, Postnatal growth re... OMIM:206900
Alstrom Syndrome
Short stature, Hypergonadotropic hypogonadism, Abnormality of the dentition, Kyphosis, Irregular ... OMIM:203800
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... ORPHA:974
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Short stature, Kyphosis, Contracture of the proximal interphalangeal jo... OMIM:618050
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Sacral dimple, Toe syndactyly, Camptodactyly of finger, Micrognathia, Tape... ORPHA:261337
Trisomy 8P
Sacral dimple, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of ... ORPHA:264450
Desmosterolosis
Rhizomelia, Micrognathia, Hydrocephalus, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft ... OMIM:602398
Occipital Horn Syndrome
High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large ... ORPHA:198
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, Hydrocele t... OMIM:158350
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Ca... ORPHA:191
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Postnatal growth retardation, Short thumb, Abs... OMIM:192350
Multiple Sulfatase Deficiency
Broad hallux phalanx, Short stature, Hydrocephalus, Broad thumb, Smooth philtrum ORPHA:585
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Arachnodactyly, Broad hallux, Pectus excavatum, Dental malocclusion, High palate, Short finger, M... OMIM:601552
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnor... ORPHA:2907
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Mycophenolate Mofetil Embryopathy
Micrognathia, Hydrocephalus, Orofacial cleft, Bifid thoracic vertebrae, Foot polydactyly, Short palm ORPHA:268249
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Short stature, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing... OMIM:259770
Walker-Warburg Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metat... ORPHA:899
Icf Syndrome
Communicating hydrocephalus, Short stature, Protruding tongue, Micrognathia, Macroglossia ORPHA:2268
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Localized Scleroderma
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... ORPHA:90289
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Hydrocephalus, Gingival overgrowth, Narrow palate, High palate, Nar... OMIM:123790
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... ORPHA:284984
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip ve... OMIM:617281
Loeys-Dietz Syndrome 1
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Cervical s... OMIM:609192
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Narrow palate, Tooth agenesis, Hypoplasia of the zyg... ORPHA:1555
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... OMIM:600145
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Hydrocephal... ORPHA:667
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Short neck, Absent thumb, Absent radius, Hydrocephalus, Cleft p... OMIM:614083
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Micrognathia, High, narrow palate, Enlarged thorax, High palate, Short 5th metacarpal... ORPHA:99413
Mosaic Monosomy X
Short neck, Micrognathia, High, narrow palate, Enlarged thorax, High palate, Short 5th metacarpal... ORPHA:99228
Monosomy X
Short neck, Micrognathia, High, narrow palate, Enlarged thorax, High palate, Short 5th metacarpal... ORPHA:99226
Turner Syndrome
Short neck, Micrognathia, High, narrow palate, Enlarged thorax, High palate, Short 5th metacarpal... ORPHA:881
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Tapered finger, Pectus excavatum, Kyphosis, Short t... ORPHA:464311
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Pectus excavatum, Abnormal... ORPHA:363700
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compr... OMIM:219090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Scoliosis OMIM:615249
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, High, narrow palate, Abnormal sternum morphology, High palate, Scoliosis OMIM:177850
H Syndrome
Hallux valgus, Short stature, Cleft upper lip, Hydrocephalus, Gingival overgrowth, Azoospermia, H... ORPHA:168569
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Short stature OMIM:259730
Marfan Syndrome
Dental crowding, Arachnodactyly, Protrusio acetabuli, Micrognathia, Open bite, Kyphosis, High, na... ORPHA:558
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Syndactyly, S... OMIM:612289
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Holopro... OMIM:270400
Williams Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Microdontia, ... ORPHA:904
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormality of the dentition, Avascular ... ORPHA:581
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Short stature, Arachnodactyly, Small for gestational age, Pectus e... ORPHA:464306
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Communicating hydrocephalus, Thickened ribs, Short neck, Pectus excavatum,... ORPHA:309282
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Short philtrum, Short stature, Abnormal dental enamel morphology, Arach... ORPHA:567
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Coach Syndrome 2
Hydrocephalus OMIM:619111
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Dental malo... OMIM:603457
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly, Clinodactyly of... ORPHA:138
Monosomy 9P
Proximal placement of thumb, Micrognathia, Short neck, Narrow mouth, Abnormality of the dentition... ORPHA:261112
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin... OMIM:135900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Short stature, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumer... ORPHA:268261
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, Kyphoscoliosis, High, narrow palate, Kyphosis, Cryptorchidism, Wi... OMIM:300967
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Cryptorchidism, H... OMIM:309000
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... ORPHA:373
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
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hydrocephalus, Lumbar kyphosis, Pectus car... ORPHA:505248
Neurofibromatosis, Type I
Short stature, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudar... OMIM:162200
Osteopetrosis, Autosomal Recessive 5
Short stature, Micrognathia, Hydrocephalus, Flared metaphysis, Gingival overgrowth, Growth delay,... OMIM:259720
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... OMIM:608091
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature loss of teet... ORPHA:3455
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... OMIM:612284
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hyd... OMIM:619895
Craniotubular Dysplasia, Ikegawa Type
Short palm, Metaphyseal dysplasia, Short stature, Increased intervertebral space, Thick lower lip... OMIM:619727
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Alob... OMIM:610828
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Abnormal thorax morphology ORPHA:2184
Proteus-Like Syndrome
Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Open bite ORPHA:2969
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Postaxial hand polydac... ORPHA:2166
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, High, narrow palate, Dilated third ventricle, Hydrocephalus, Lateral v... OMIM:619575
Mgat2-Cdg
Dental crowding, Pectus excavatum, Kyphosis, Scoliosis, Open mouth, Failure to thrive, Brachydactyly ORPHA:79329
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Aplasia/Hypoplasia of the sternu... OMIM:219000
Kabuki Syndrome 1
Congenital hip dislocation, Short stature, Micrognathia, Abnormality of the dentition, Postnatal ... OMIM:147920
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature ORPHA:381
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Short stature, ... OMIM:614188
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... ORPHA:54595
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Short stature, Rocke... ORPHA:163979
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Orofacial cleft, Scoliosis ORPHA:1454
Mucolipidosis Type Ii
Hip contracture, Short stature, Postnatal growth retardation, Kyphosis, Hip dislocation, Gingival... ORPHA:576
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Orofacial cleft, High palate, Narrow chest, Prominent finge... OMIM:309800
Alobar Holoprosencephaly
Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur... ORPHA:93924
Semilobar Holoprosencephaly
Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur... ORPHA:220386
Loeys-Dietz Syndrome 2
Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognath... OMIM:610168
Isotretinoin-Like Syndrome
Micrognathia, Postnatal growth retardation, Hydrocephalus, Cleft palate, Intrauterine growth reta... ORPHA:2306
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Postnatal growt... ORPHA:83617
Congenital Sialidosis Type 2
Hydrocephalus, Polydactyly, Gingival overgrowth, Protruding tongue ORPHA:93400
Chand Syndrome
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis OMIM:253800
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Weight loss, Hip dysplasia, F... OMIM:619377
Classic Homocystinuria
Arachnodactyly, Dental crowding, Pectus excavatum, Kyphosis, Genu valgum, Pectus carinatum, High ... ORPHA:394
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal long bone morphology, Abno... ORPHA:228123
Peters Plus Syndrome
Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bifida occul... ORPHA:709
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Hydrocephalus, Retrognathia, Dandy-Walker malformation, Adducted... OMIM:614643
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Cleft upper lip, Crypt... OMIM:607872
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Hydrocephalus, Genu valgum, Downturned corners of mouth, Abdomi... OMIM:619321
Primrose Syndrome
Hypoplasia of the maxilla, Bilateral cryptorchidism, Downturned corners of mouth, Irregular verte... OMIM:259050
1P36 Deletion Syndrome
11 pairs of ribs, Short stature, Camptodactyly of finger, Kyphosis, Narrow mouth, Cryptorchidism,... ORPHA:1606
Neurooculorenal Syndrome
Ventriculomegaly, Short hallux, Micrognathia, Postnatal growth retardation, Cryptorchidism, Aqued... OMIM:620305
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Dextrocardia
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Fanconi Anemia, Complementation Group D2
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent ra... OMIM:227646
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Widely spaced teeth OMIM:300942
Fraser Syndrome
Encephalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Cryptorchidis... ORPHA:2052
Atelis Syndrome 2
Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Downturned corners of... OMIM:620185
Hemangioblastoma
Hydrocephalus ORPHA:252054
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... OMIM:619475
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Short stature, Micrognathia, Short ... OMIM:218040
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Cachexia, Pectus excavatum, Hydrocephalus, Growth delay, Azoospermia, Scoliosis, D... ORPHA:2072
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Chronic sinusitis, Communicating hydrocephalus, Male infertility OMIM:244400
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis OMIM:211530
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malformation ORPHA:722
Gaucher Disease Type 1
Kyphosis, Growth delay, Gingival bleeding, Delayed puberty, Vertebral compression fracture ORPHA:77259
Meckel Syndrome
Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial... ORPHA:564
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Cryptorchidism, Myelomeningo... OMIM:258040
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Ciliary Dyskinesia, Primary, 43
Chronic sinusitis, Noncommunicating hydrocephalus OMIM:618699
Arachnoid Cyst
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Hydrocephalus, Holoprosencephaly, Sci... ORPHA:2356
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Thin upper lip vermilion, Premature ovarian insufficiency, Hypergonadot... OMIM:212065
Whipple Disease
Cachexia, Hydrocephalus, Erectile dysfunction ORPHA:3452
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly OMIM:219730
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus, Hand polydactyly ORPHA:65285
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Williams-Beuren Syndrome
Hallux valgus, Short stature, Down-sloping shoulders, Kyphoscoliosis, Failure to thrive in infanc... OMIM:194050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Cleft upper lip, Micrognathia, Cryptorchidism, Meningo... OMIM:236670
Monosomy 22Q13.3
Sacral dimple, Dental crowding, Dental malocclusion, Obesity, Clinodactyly of the 5th finger, Mal... ORPHA:48652
Stromme Syndrome
Micrognathia, Hydrocephalus, Preaxial polydactyly, Cleft palate, Wide mouth OMIM:243605
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, High palate, Phocomelia, Hyperplasia of the maxilla, S... OMIM:268300
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Macrodactyly, Dysmenorrhea, Abno... ORPHA:314769
Fraser Syndrome 3
Short toe, Hydrocephalus, Cutaneous syndactyly, Micrognathia OMIM:617667
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Arachnoiditis
Hydrocephalus ORPHA:137817
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity, Secondary amenorrhea OMIM:610489
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Severe short stature, Failure to thrive, Abnormal dental enamel morphology, Microg... ORPHA:2556
Loeys-Dietz Syndrome 3
Arachnodactyly, Protrusio acetabuli, Dental malocclusion, Cleft palate, Cervical spine instabilit... OMIM:613795
Coffin-Siris Syndrome 12
Short stature, Micrognathia, Hip subluxation, Short thumb, Velopharyngeal insufficiency, Submucou... OMIM:619325
Kindler Epidermolysis Bullosa
Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact... ORPHA:2908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Ventriculomegaly, Hydroce... OMIM:615287
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Aspartylglucosaminuria
Short stature, Kyphosis, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mouth, Macr... OMIM:208400
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature, Cachexia ORPHA:220295
Acromegaly
Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Macrodactyly, Dysmenorrhea, Abno... ORPHA:963
Cowden Syndrome
Short stature, Pectus excavatum, Kyphosis, Furrowed tongue, Macroglossia, High palate, Scoliosis,... ORPHA:201
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Glos... ORPHA:79282
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper li... OMIM:164210
Neurofibromatosis Type 1
Short stature, Kyphosis, Cryptorchidism, Hydrocephalus, Genu valgum, Slender long bone, Scoliosis... ORPHA:636
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:395
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Overlapping fingers, Absent uvula, Micrognathia OMIM:619708
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Failure to thrive, Smooth philtrum OMIM:277400
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Abnormal pelvis bone morphology, Abnormal dental enamel morphology, Camptod... ORPHA:2273
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hydrocephalus, Cleft palate, Colpocephaly, Chordee OMIM:309801
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip OMIM:313850
Medulloblastoma
Back pain, Hydrocephalus ORPHA:616
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... OMIM:306955
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Rett Syndrome, Congenital Variant
Kyphosis, Thin upper lip vermilion, Scoliosis OMIM:613454
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macroorchidism, Abnormal dental enamel morphology, Macrodactyly... ORPHA:744
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,... ORPHA:857
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Lymphedema-Distichiasis Syndrome
Kyphosis, Cleft palate, Cleft upper lip, Micrognathia OMIM:153400
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Meningioma
Back pain, Hypogonadotropic hypogonadism, Hydrocephalus, Obesity, Impotence, Neoplasm of the tong... ORPHA:2495
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Meningocele, Abnormal r... ORPHA:991
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Short stature, Temporomandibular j... ORPHA:580
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hydrocephalus, Ventriculomegaly ORPHA:228308
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Small for gestat... OMIM:107480
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micrognathia, Clef... OMIM:214800
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Carious teeth, Kyphosis, Scoliosis, Enamel hypoplasia ORPHA:90324
Tetraamelia Syndrome 1
Cleft upper lip, Micrognathia, Hydrocephalus, Cleft palate, Hypoplastic pelvis OMIM:273395
Sturge-Weber Syndrome
Hydrocephalus, Gingival overgrowth ORPHA:3205
Hydrolethalus Syndrome 1
Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Branchiooculofacial Syndrome
Cryptorchidism, Proximal placement of thumb, Hyperlordosis, Micrognathia, Kyphosis, Cleft upper l... OMIM:113620
Triosephosphate Isomerase Deficiency
Kyphosis, Failure to thrive OMIM:615512
Viss Syndrome
Micrognathia, High, narrow palate, Pectus carinatum, High palate, Broad uvula, Bifid uvula, Micro... OMIM:619472
Histiocytoid Cardiomyopathy
Hydrocephalus, Failure to thrive, Cleft palate ORPHA:137675
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Communicating hydrocephalus OMIM:616084
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Abnormality of the dentition, Pectus excavatum, Kyphosi... ORPHA:821
Gaucher Disease
Short stature, Hydrocephalus, Gingival bleeding, Delayed puberty, Ventriculomegaly ORPHA:355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Everted lower lip vermilion, Malar flattening, Ventriculomegaly OMIM:253280
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hydrocephalus OMIM:261740
17Q11 Microdeletion Syndrome
Short stature, Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Abnormality of the sphenoid si... ORPHA:97685
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first... OMIM:619534
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Short stature, Hypergonadotropic hypogonadism, T... ORPHA:64
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules 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) Mtf2tm1a(EUCOMM)Wtsi PMC5928144

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mtf2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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