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Gene: Runx2 MGI:99829

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Gene Summary

Name:
runt related transcription factor 2
Synonyms:
Osf2,  Pebpa2a,  Cbfa1,  SL3-3 enhancer factor 1,  PEBP2 alpha A,  AML3,  polyomavirus enhancer binding factor 2 (PEBP2),  PEBP2aA

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Runx2em1(IMPC)Rbrc HET Early adult 5.95×10-08
abnormal cranium morphology Runx2em1(IMPC)Rbrc HET Early adult 4.18×10-10
abnormal zygomatic bone morphology Runx2em1(IMPC)Rbrc HET Early adult 6.97×10-11
abnormal vertebral arch morphology Runx2em1(IMPC)Rbrc HET Early adult 3.02×10-06
increased lean body mass Runx2em1(IMPC)Rbrc HET Early adult 4.39×10-05
abnormal pelvic girdle bone morphology Runx2em1(IMPC)Rbrc HET Early adult 4.67×10-06
abnormal clavicle morphology Runx2em1(IMPC)Rbrc HET Early adult 6.97×10-11
abnormal humerus morphology Runx2em1(IMPC)Rbrc HET Early adult 1.97×10-08
abnormal bone structure Runx2em1(IMPC)Rbrc HET Early adult 3.17×10-05
abnormal vertebrae morphology Runx2em1(IMPC)Rbrc HET   Early adult 8.79×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Human diseases caused by Runx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Runx2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleidocranial Dysplasia
Dystrophic toenail, Cleft palate, Supernumerary tooth, Carious teeth, Decreased skull ossificatio... ORPHA:1452
Cleidocranial Dysplasia 1
Hip dislocation, Supernumerary tooth, Increased susceptibility to fractures, Cone-shaped epiphyse... OMIM:119600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Flared... OMIM:156510

The table below shows human diseases predicted to be associated to Runx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow ORPHA:2222
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Tooth Agenesis, Selective, 9
Taurodontia, Microdontia, Selective tooth agenesis OMIM:617275
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Cleidocranial Dysplasia 2
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... OMIM:620099
Dentinogenesis Imperfecta
Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho... ORPHA:49042
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Synophrys, Downslanted palpebral fissures, Abnormality of dental morphology, Gingiva... ORPHA:2025
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... ORPHA:2972
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Cleidorhizomelic Syndrome
Short middle phalanx of the 5th finger, Rhizomelia, Abnormal clavicle morphology, Clinodactyly of... OMIM:119650
Telecanthus
Bilateral cleft lip and palate, Anodontia, Telecanthus OMIM:187350
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Delayed eruption o... ORPHA:2026
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Cone-shaped e... ORPHA:71267
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Abnormal mandible morphology, Natal tooth, Cleft palate OMIM:217150
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
Odontochondrodysplasia
Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Coxa valga, Delayed eruption of... ORPHA:166272
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Microgn... ORPHA:3104
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... ORPHA:166277
Cleidocranial Dysplasia
Dystrophic toenail, Cleft palate, Supernumerary tooth, Carious teeth, Decreased skull ossificatio... ORPHA:1452
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Hyperextensibility at elbow, Osteopenia, Anterior radial... OMIM:610967
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... OMIM:619795
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... ORPHA:1837
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, High palate, Malar flattening, Osteoporosis, Bowing of the arm, Narrow ... OMIM:613849
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Inguinal hernia, Tooth agenesis, Flattened epiphysis, Mandibular prognathia, Ameloge... OMIM:618363
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Multiple impacted teet... OMIM:113300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Palmar hyperhidrosis, Enamel hypoplasia, Oral mucosal blisters, Hypodont... OMIM:226650
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... ORPHA:63442
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... OMIM:265900
Osteogenesis Imperfecta, Type Xix
Multiple prenatal fractures, Osteopenia, Recurrent fractures, Joint hypermobility, Bowing of the ... OMIM:301014
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Finger syndactyly, Hypoplastic scapulae, Toe syn... ORPHA:1512
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Horner syn... OMIM:141300
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Syngnathia
Cleft palate OMIM:119550
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Persisten... OMIM:265800
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal chondrodysplasia, Abnormality of the dentition, Short lower limbs, Abnormal metaphysi... ORPHA:2501
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Micrognathia, Blepharophi... ORPHA:2016
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Hip dislocation, Short middle phalanx of the 5th finger, Carious teeth, Flexion contracture, Cuta... OMIM:203550
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Joint stiffness, Bowing of the long bones, Abnormal epiphysis mor... ORPHA:1040
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Malar flattening, Short clavicles, Bell-shaped thorax, Decreased calvar... OMIM:614592
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... ORPHA:79106
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal metaphysis m... ORPHA:2484
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... ORPHA:2228
Parc Syndrome
Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate OMIM:600331
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... ORPHA:1802
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, M... OMIM:234250
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Odontochondrodysplasia 1
Genu varum, Metaphyseal cupping, Small epiphyses, Metaphyseal widening, Flat acetabular roof, Del... OMIM:184260
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Primary Condylar Hyperplasia
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... ORPHA:477781
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Cranioectodermal Dysplasia
Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys... ORPHA:1515
Orofacial Cleft 13
Oligodontia, Retrognathia, Malar flattening, Micrognathia, Cleft soft palate OMIM:613857
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Short lower limbs, Multiple prenatal fractures, Bowing of limbs due to multiple frac... OMIM:259440
X-Linked Hypophosphatemia
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... ORPHA:89936
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel hypomineralization, Micr... ORPHA:3352
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Pseudopseudohypoparathyroidism
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption of teeth, B... OMIM:612463
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Micrognathia, Cleft palate OMIM:261800
Catifa Syndrome
Epicanthus, Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of teeth,... OMIM:618761
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal diaphysis morphology, Wide anterior fontanel, Coxa valga... ORPHA:85184
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal epiphysis morphology, Abnormal rib morphology, Downturned corners of ... ORPHA:2643
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormality of cranial sutures, Thoracic kyphosis, Flattened epip... ORPHA:163649
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Abnormality of the dentition, Abnormal palate morphology, Hand polyda... ORPHA:1350
Acrorenal Syndrome
Cleft palate, Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Split h... ORPHA:971
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Type B b... OMIM:113000
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Osteogenesis Imperfecta, Type Iii
Severe generalized osteoporosis, Wide anterior fontanel, Thin ribs, Multiple prenatal fractures, ... OMIM:259420
Megaepiphyseal Dwarfism
Epicanthus, Cleft palate OMIM:249230
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short thorax, Metaphyseal cupping, Short ribs, Rhizomelia, Short ... ORPHA:50945
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement, Abnormal clavicle morphology ORPHA:57196
Bencze Syndrome
Open bite, Submucous cleft hard palate, Upslanted palpebral fissure, Telecanthus ORPHA:1241
Fgfr2-Related Bent Bone Dysplasia
Coronal craniosynostosis, Metopic depression, Steep acetabular roof, Abnormal periosteum morpholo... ORPHA:313855
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Dislocated radial head, Enamel hypoplasia, Long philtrum, ... ORPHA:99329
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Cleidocranial Dysplasia 1
Hip dislocation, Supernumerary tooth, Increased susceptibility to fractures, Cone-shaped epiphyse... OMIM:119600
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... ORPHA:363417
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Syndactyly, Enamel hypoplasia OMIM:613576
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Cenani-Lenz Syndactyly Syndrome
Malar flattening, Syndactyly, Enamel hypoplasia, Premature loss of permanent teeth, Radioulnar sy... OMIM:212780
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Syndactyly, Enamel hypoplasia, Carious teeth OMIM:226700
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft upper lip, Cleft palate OMIM:106250
Parietal Foramina With Cleidocranial Dysplasia
Widely patent fontanelles and sutures, Short clavicles OMIM:168550
Cleidorhizomelic Syndrome
Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Abnormal clav... ORPHA:1453
Desbuquois Dysplasia 2
Hip dislocation, Bifid uvula, Advanced ossification of carpal bones, Cleft palate, Broad thumb, K... OMIM:615777
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Abnormal cortical bone morphology, Missing ribs, Mandibular prognathia, Bifid ... ORPHA:2769
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Sho... OMIM:605282
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Depressed nasal brid... ORPHA:3098
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Teebi Hypertelorism Syndrome 2
High palate, Upper eyelid coloboma, Microdontia, Thick eyebrow, Everted lower lip vermilion, Clef... OMIM:619736
Fibrochondrogenesis 1
Long clavicles, Thin ribs, Broad long bones, Posterior rib cupping, Joint contracture of the hand... OMIM:228520
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the dentition, Finger syndactyly, Abnormality of the ... ORPHA:3268
Anauxetic Dysplasia 3
Pectus excavatum, Depressed nasal bridge, Retrognathia, Metaphyseal cupping, Wide anterior fontan... OMIM:618853
Langer Mesomelic Dysplasia
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphol... ORPHA:2632
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2325
Rubinstein-Taybi Syndrome 2
High palate, Retrognathia, Short first metatarsal, Talon cusp, Syndactyly, Broad thumb, Narrow pa... OMIM:613684
Craniometadiaphyseal Dysplasia
Genu varum, Wide anterior fontanel, Coxa valga, Broad ribs, Broad long bones, Osteopenia, Mandibu... OMIM:269300
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Abnormality of the vertebral column, Metaphyseal striations, Short metacarpal, Abnorm... OMIM:250460
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Wide anterior fontanel, Thin ribs, Short metacarpal, Multiple prenatal fractures... OMIM:610915
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Abnormal cl... ORPHA:3416
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Tapered finger, Prominent median palatal raphe, Joint laxi... OMIM:300602
Thyroid Dyshormonogenesis 3
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio OMIM:274700
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Abnormality of the dentition, Premature loss of primary teeth ORPHA:1811
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Abnormal eyebrow morphology ORPHA:1816
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen... OMIM:274500
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... OMIM:313500
Rhizomelic Syndrome
Hip dislocation, Wide anterior fontanel, Complete duplication of thumb phalanx, Bifid distal phal... OMIM:268250
X-Linked Hypohidrotic Ectodermal Dysplasia
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion,... ORPHA:181
Shaheen Syndrome
Palmoplantar hyperkeratosis, Enamel hypoplasia, Carious teeth OMIM:615328
Momo Syndrome
High palate, Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Taurodontia, Dental mal... OMIM:157980
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens... OMIM:188570
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Neuronal Intestinal Pseudoobstruction
Malabsorption, Natal tooth ORPHA:99811
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... OMIM:615285
Van Maldergem Syndrome 1
Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodactyly, Irregu... OMIM:601390
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... OMIM:600785
Chromosome 22Q11.2 Duplication Syndrome
High palate, Epicanthus, Downslanted palpebral fissures, Velopharyngeal insufficiency, Micrognathia OMIM:608363
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Hypoplastic scapulae, Short clavicles, Bowed humerus, Hypoplastic pelvis, Absent thumb OMIM:618022
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Umbilical hernia, Osteoporosis, Dis... OMIM:614856
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Micrognathia, Cleft palate OMIM:311895
Vitamin D-Dependent Rickets, Type 2A
Rickets, Thin bony cortex, Bulging epiphyses, Bulging of the costochondral junction, Enamel hypop... OMIM:277440
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... ORPHA:1028
Filippi Syndrome
2-4 toe syndactyly, Serrated incisors, Abnormality of dental morphology, Microdontia, Finger clin... OMIM:272440
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Tetrasomy X
Abnormality of the dentition, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:9
Mandibuloacral Dysplasia With Type B Lipodystrophy
Premature loss of teeth, Acroosteolysis of distal phalanges (feet), High palate, Progressive clav... OMIM:608612
Achondrogenesis, Type Ia
Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ... OMIM:200600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Bulging epiphyses, Bulging ... OMIM:264700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Vertebral wedging, Advanced ossification of carpal bones, Monke... OMIM:617719
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Abnormal epiphysis morph... ORPHA:2114
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Thin ribs, Cleft palate, Narrow mouth, Joint contracture of the hand... OMIM:600920
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, 11 pairs of ribs, Wide anterior fontanel, Short tibia, Micrognathi... OMIM:201170
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Ptosis OMIM:617732
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu... ORPHA:2790
Van Maldergem Syndrome 2
Hypoplastic nipples, High anterior hairline, Cutaneous finger syndactyly, Wide cranial sutures, I... OMIM:615546
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypoplasia of the nasal bone, Hypogonadism, Elevated calcitonin, Diabetes mellitu... ORPHA:280651
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Osteoporosis, Wormian bones, Joint hyperflexibility, Brachydactyly ORPHA:2787
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Flared femoral metaphysis, Broad femoral neck, Platyspondyly, Shor... OMIM:609324
Intellectual Developmental Disorder, X-Linked 90
Malar flattening, High palate, Upslanted palpebral fissure, Bifid uvula OMIM:300850
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, High palate, Anal atresia, Tooth agenesis, Long eyelashes, Downslant... ORPHA:2863
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Widely spaced teeth, Enamel hypoplasia, 2-4 finger syndactyly, 4-5 toe syndactyly,... OMIM:613573
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Abnormal size of the palpebral fissures, Taurodontia, High, narrow palate, Macrodontia, Delayed e... ORPHA:3214
Achondroplasia
Abnormal iliac wing morphology, Hip joint hypermobility, Limited elbow extension, Thoracic hypopl... ORPHA:15
Xylt1-Cdg
Synophrys, Broad ribs, Coxa valga, Joint dislocation, Short clavicles, Cleft palate, Broad thumb,... ORPHA:370930
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Delayed erupt... OMIM:619489
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Upslanted palpebral fissure, Everted lower lip ver... ORPHA:884
Congenital Disorder Of Glycosylation, Type Iik
Malar flattening, Osteoporosis, Amelogenesis imperfecta, Joint laxity, Metaphyseal dysplasia, Dia... OMIM:614727
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Notched primary central incisor, Adducted thumb, Brachydactyly OMIM:620062
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Epiphyseal stippling, Wide nasal bridge OMIM:614859
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Large fontanelles, Wormian bones, Ab... ORPHA:2097
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Anal atresia, Bilateral cleft lip and palate, Distichiasis, Euryblepharon, Carious... ORPHA:1997
48,Xxyy Syndrome
Epicanthus, Taurodontia, Upslanted palpebral fissure, Broad jaw, Cleft palate, Delayed eruption o... ORPHA:10
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Epicanthus, Micrognathia, Cleft palate ORPHA:2015
Symbrachydactyly Of Hands And Feet
Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb... ORPHA:1570
Enlarged Parietal Foramina
Craniosynostosis, Broad thumb, Short clavicles ORPHA:60015
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... OMIM:259710
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Metaphyseal widening, Ulnar deviation of the hand, Wide anterior fontanel, Underdev... OMIM:263210
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Down-sloping shoulders, Retrognathia, Recurrent shoulder dislocation, Short clavicles, Osteopenia... OMIM:212112
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Abnormal meta... ORPHA:2658
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Decreased circulating T4 concentration, Decreased thyroid-stimulating hor... OMIM:275100
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
High palate, Short 4th metacarpal, Joint dislocation, Short clavicles, Microretrognathia, Joint l... OMIM:606220
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft hard palate, Cleft palate, Micr... ORPHA:2521
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... OMIM:274300
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormality of the k... ORPHA:970
Seckel Syndrome 5
Oligodontia, High palate, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Enamel hypopl... OMIM:613823
Marbach-Rustad Progeroid Syndrome
Reduced bone mineral density, Eruption failure, Femur fracture, Wormian bones, Short clavicles, N... OMIM:619322
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Occipital Horn Syndrome
Rickets, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brachydactyly, D... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Proximal femoral epiphysiolysis, Radial bowing, Short 1st metacar... OMIM:210720
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... OMIM:616507
Sponastrime Dysplasia
Hip dislocation, Generalized joint laxity, Rhizomelia, Metaphyseal irregularity, Flattened humera... ORPHA:93357
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... OMIM:144750
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Scarring alopecia of scalp, A... ORPHA:79402
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Short thorax, Wide anterior fontanel, Micrognathia, Aplastic clavicle, ... ORPHA:85199
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Failure to thrive, Respiratory failure, Tongue fas... OMIM:616081
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tib... OMIM:112350
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Wide anterior fontanel, Decreased circulating T4 concentration, Decreased thyroid-stimula... ORPHA:95715
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Short... OMIM:169550
Amelogenesis Imperfecta, Type If
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Delayed eruption of permanent teeth, Thick vermilion border, Exaggerated cupid's bow,... OMIM:618506
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:3019
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Generalized joint laxity, Joint stiffness, Avascular necrosis of the capita... OMIM:132400
Seckel Syndrome 1
Hypoplasia of proximal fibula, Single transverse palmar crease, High palate, Hip dislocation, Sel... OMIM:210600
Andersen Cardiodysrhythmic Periodic Paralysis
Oligodontia, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, Short phalanx of finge... OMIM:170390
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... OMIM:253250
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Sparse sc... OMIM:248370
Dominant Beta-Thalassemia
Hypopituitarism, Chronic hepatitis, Hypoparathyroidism, Hepatosplenomegaly, Dyspnea, Osteoporosis... ORPHA:231226
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Congenital hip dislocation, Achilles tendon contracture, Dental malocclu... OMIM:619719
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Knee flexion contracture, Anteverted nares, Tapered fing... OMIM:313420
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... OMIM:300106
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Metaphyseal sclerosis, Ovoid vertebral bodies, Metaphyseal widening... OMIM:609052
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Epicanthus, Sparse eyebrow, High, narrow palate OMIM:619692
Beta-Thalassemia Major
Hypopituitarism, Hypoparathyroidism, Hepatomegaly, Hepatosplenomegaly, Dyspnea, Osteoporosis, Dec... ORPHA:231214
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Hip dysplasia, Wide anterior fontanel, Wormian bones, Micrognathia, Narr... OMIM:614541
Acrodysostosis
Open mouth, Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpa... ORPHA:950
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Abnormal calcification of the carpal bones, Broad long bones, Flared iliac wing, Epiphyseal stipp... OMIM:271665
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Hypoplasia of teeth, Coxa valga, Hypophosphatemic rickets, Carious teeth, Genu valgum OMIM:613312
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Hypoplastic pelvis, Cleft upper lip, Parakeratosis, Aplasia of the distal p... OMIM:308050
Leri-Weill Dyschondrosteosis
High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle... OMIM:127300
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Pectus excavatum, Limited elbow extension, Absent radius, Abs... OMIM:142900
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Pectus excavat... OMIM:618150
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Wide anterior fontanel, Ulnar bowing, Shortening of all distal phalang... OMIM:619135
Sweeney-Cox Syndrome
Median cleft palate, Short distal phalanx of finger, High palate, Prominent metopic ridge, Genera... OMIM:617746
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Thin bony cortex, Rachitic rosary, Enlargement of the costochondral junction, Genu varum... ORPHA:289157
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Intellectual Disability, Birk-Barel Type
Open mouth, Limited elbow flexion/extension, Broad philtrum, High, narrow palate, Tented upper li... ORPHA:166108
Brachycephaly, Trichomegaly, And Developmental Delay
Open mouth, High palate, Epicanthus, Long eyelashes, Bifid uvula, Synophrys, Submucous cleft hard... OMIM:617412
Pseudoachondroplasia
Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,... ORPHA:750
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Retrognathia, Enamel hypoplasia OMIM:617915
Osteogenesis Imperfecta, Type X
Inguinal hernia, Generalized joint laxity, Multiple rib fractures, Malar flattening, Bowing of th... OMIM:613848
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Beta-Thalassemia Intermedia
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Increased susceptibility to fractures, Decreased ... ORPHA:231222
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short 5th finger, Apl... ORPHA:52056
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Downslanted palpebral fissures, Dental crowding, Highly arched eyebrow, Long philtru... OMIM:618825
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Abnormality of... ORPHA:564003
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Subcutaneous o... OMIM:103580
Familial Thyroid Dyshormonogenesis
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Abnormal epi... ORPHA:95716
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Ollier Disease
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Multiple enchondromatosis, M... ORPHA:296
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Scoliosis, Abnormality of fibula mor... ORPHA:3344
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Undulate ribs, Preaxial foot poly... OMIM:609945
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Hip dysplasia, Abnormal metaphysis morphology, Abnormal ... ORPHA:2370
17Q11.2 Microduplication Syndrome
Malar flattening, Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:139474
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
Osteogenesis Imperfecta, Type Xi
Osteopenia, Protrusio acetabuli, Joint laxity, Increased susceptibility to fractures, Recurrent f... OMIM:610968
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi... OMIM:309350
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Mandibuloacral Dysplasia
High palate, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalange... ORPHA:2457
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... ORPHA:53697
Peroxisome Biogenesis Disorder 7A (Zellweger)
Large posterior fontanelle, Wide anterior fontanel, Epiphyseal stippling, Talipes equinovarus OMIM:614872
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syndactyly, Ac... ORPHA:88630
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Flat distal femoral epiphysis, Schmorl's node, Irregular epiphyses... OMIM:614135
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Boomerang Dysplasia
Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poor... ORPHA:1263
Metatropic Dysplasia
Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Respiratory failure, Hyperpla... OMIM:156530
Oculoskeletodental Syndrome
Oligodontia, Abnormality of the dentition, Retrognathia, Enamel hypoplasia, Microdontia, Short 5t... ORPHA:557003
Rapp-Hodgkin Syndrome
Conical tooth, Bifid uvula, Taurodontia, Absent lacrimal punctum, Microdontia, Enamel hypoplasia,... OMIM:129400
Junctional Epidermolysis Bullosa Inversa
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... ORPHA:79405
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Retrognathia, Depressed nasal ridge, Median cleft lip and palate, Short nose, Gingival f... ORPHA:1832
Cole-Carpenter Syndrome 2
Coronal craniosynostosis, High palate, Thin ribs, Osteopenia, Lambdoidal craniosynostosis, Micror... OMIM:616294
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Cdags Syndrome
Coronal craniosynostosis, Sagittal craniosynostosis, Malar flattening, Short ribs, Large fontanel... OMIM:603116
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Epicanthus, Downslanted palpebral fissures, Mandibular prognathia, Dental malocclusion OMIM:618292
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Aplasi... ORPHA:1275
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Palmoplantar hyperkeratosis, Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Ivic Syndrome
Severe short stature, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulnar syno... ORPHA:2307
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Open mouth, High palate, Retrognathia, Epicanthus, Downslanted palpebral fissures, Persistence of... OMIM:618342
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... OMIM:259720
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteomalacia, Micromelia, Large hands, Bilateral single transverse palmar creases, Brach... ORPHA:2636
Nance-Horan Syndrome
Screwdriver-shaped incisors, Diastema, Broad finger, Mulberry molar, Short phalanx of finger, Sup... OMIM:302350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Oligodontia, Joint stiffness, Misalignment of incisors, 11 pairs of ribs, E... OMIM:619184
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Microdontia, Enamel h... OMIM:618727
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ... OMIM:600081
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Momo Syndrome
High palate, Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Taurodontia, Dental mal... ORPHA:2563
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Short phalanx of finger, ... OMIM:612350
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Bowing of limbs due to multiple fractures, Increased susceptibility... OMIM:166220
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Fibrochondrogenesis
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short rib... ORPHA:2021
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Bifid uvula, Joint dislocation, Cleft palate, Slender toe, Narrow mouth, Sparse scalp hair, Coxa ... OMIM:130070
Braddock-Carey Syndrome 1
Clinodactyly, Camptodactyly, Enamel hypoplasia, U-Shaped upper lip vermilion, Everted lower lip v... OMIM:619980
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Arthrogryposis multiplex congenita, Multiple joint contractures, Neona... OMIM:611369
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Abnormal clavicle morphology... ORPHA:1520
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Solitary median maxillary central incisor, Advanced ... ORPHA:952
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... ORPHA:75508
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Sparse eyebrow, Hypodontia, Natal tooth, Sparse eyelashes OMIM:601345
Osteogenesis Imperfecta, Type I
Finger joint hypermobility, Hip dysplasia, Osteopenia, Increased susceptibility to fractures, Rec... OMIM:166200
Late-Onset Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... ORPHA:79406
Mesomelic Limb Shortening And Bowing
Retrognathia, Micrognathia, Cleft palate OMIM:249710
Congenital Myopathy 14
High palate, Respiratory insufficiency due to muscle weakness, Knee flexion contracture, Death in... OMIM:618414
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Retrognathia, Delayed eruption of permanent teeth, Osteopenia, Short toe... OMIM:619269
Brittle Cornea Syndrome 1
Congenital hip dislocation, Palmoplantar cutis laxa, Joint laxity, Dentinogenesis imperfecta, Aty... OMIM:229200
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Auriculocondylar Syndrome 2
Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crowding, Narrow m... OMIM:614669
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Coxa valga, Short greater sciatic notch, Anterior beaking of lumbar vertebrae OMIM:271620
Orofaciodigital Syndrome Xix
High palate, Epicanthus, Retrognathia, Downslanted palpebral fissures, Accessory oral frenulum, M... OMIM:620107
Localized Junctional Epidermolysis Bullosa
Mitten deformity, Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Scarring al... ORPHA:251393
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Hip dysplasia, Widely spaced teeth, Microdontia, Enamel hypoplasi... OMIM:619293
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Hip dysplasia, Sagittal craniosynostosis, Broad phalanx of the to... OMIM:614378
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption of teeth, B... OMIM:612462
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short distal phalanx of finger, Short first metatarsal, Prominen... OMIM:601957
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Postaxial foot polydactyly, Bifid uvula, Postaxial polysyndactyly of... ORPHA:2919
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Increased susceptibility t... ORPHA:763
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Cachexia, E... ORPHA:824
Osteomesopyknosis
Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... ORPHA:2777
Metatropic Dysplasia
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Long ... ORPHA:2635
Uvula, Bifid
Bifid uvula OMIM:192100
Eiken Syndrome
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... OMIM:600002
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Lateral clavicle hook, Long thorax, Preaxial polydactyly, Postaxial polydactyly,... OMIM:617925
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Camptodactyly, Coronal craniosynostosis, Flexion contracture, Wide anterior fontanel, Choanal atr... OMIM:207410
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Dorsal subluxation of ulna, Madelung deformity, Diaphyse... ORPHA:240
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of t... ORPHA:3145
Congenital Atransferrinemia
Anemia, Arthritis, Hypothyroidism ORPHA:1195
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmop... OMIM:226670
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Short femoral neck, Madelung deformity, Hyp... OMIM:249700
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Epicanthus, Micrognathia, Cleft palate ORPHA:1779
Chime Syndrome
Osteolysis, Hip dislocation, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the phalanges o... ORPHA:3474
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal nasolacrimal system morphology, Abnormal eyebrow morpholog... ORPHA:3220
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Abnormality of the dentition, Punctate palmoplantar hyperkeratosis, Abno... ORPHA:69087
Short Stature, Brussels Type
Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage ORPHA:2867
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Potocki-Shaffer Syndrome
Delayed puberty, Broad nasal tip, Depressed nasal tip, Prominent nasal bridge, Anemia, Hypothyroi... ORPHA:52022
Snijders Blok-Campeau Syndrome
High palate, Epicanthus, Widely spaced teeth, Taurodontia, Enamel hypoplasia OMIM:618205
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, High palate, Aplasia/Hypoplasia of the radius, Abnormality of the wrist, Microdonti... ORPHA:1307
Spondylodysplastic Ehlers-Danlos Syndrome
Hip dysplasia, Generalized joint laxity, Abnormality of the temporomandibular joint, Joint disloc... ORPHA:536471
Acrocallosal Syndrome
Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydactyly, Abnormal clavicle morpho... ORPHA:36
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Abnormality ... ORPHA:2204
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, W... ORPHA:1860
Cardiospondylocarpofacial Syndrome
Tooth malposition, Failure of eruption of permanent teeth, High, narrow palate ORPHA:3238
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Wide nasal bridge, Dep... ORPHA:1513
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, High palate, Abnormal metacarpal morphology ORPHA:2233
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Abnormality of the dentition, Abnormal palate morphology, Carious teeth ORPHA:3270
Treacher Collins Syndrome 4
Malar flattening, Downslanted palpebral fissures, Cleft palate, Lower eyelid coloboma, Micrognathia OMIM:618939
Eem Syndrome
Selective tooth agenesis, Widely spaced teeth, Abnormality of dental morphology, Microdontia, Abs... ORPHA:1897
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Short clavicles, Overtubulated long bones OMIM:619793
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181393
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Cleft palate, Dental crowding, Glossoptosis, Lower eyelid c... OMIM:616367
Frank-Ter Haar Syndrome
Broad nasal tip, Hip dysplasia, Cortical irregularity, Short phalanx of finger, Camptodactyly, Os... OMIM:249420
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Flared... OMIM:156510
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Birk-Barel Syndrome
High palate, Long eyelashes, Bifid uvula, Tented upper lip vermilion, Highly arched eyebrow, Micr... OMIM:612292
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Mandibular pain, Calvarial osteo... OMIM:607634
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Shortening of the talar neck, Enamel hypomineralization, Osteoarthritis, Osteomalacia, H... OMIM:307800
Marshall Syndrome
Bifid uvula, Small distal femoral epiphysis, Cleft palate, Radial bowing, Thick lower lip vermili... OMIM:154780
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Camptodactyly of finger, Patellar aplasia, Retrognathia, Slender long bone, Abn... ORPHA:2554
Self-Improving Dystrophic Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... ORPHA:79411
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Larsen-Like Syndrome
Radial deviation of the 4th finger, Wide anterior fontanel, Absent nasal bridge, Dental malocclus... OMIM:608545
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Respiratory insufficiency due to muscle weakness, Respiratory failure, Death... OMIM:300717
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal metaphysis morphology, Coarse... ORPHA:1782
Spinal Muscular Atrophy, Type I
Death in childhood, Recurrent respiratory infections, Respiratory insufficiency, Respiratory fail... OMIM:253300
Occipital Horn Syndrome
Short humerus, Pectus excavatum, High palate, Limited elbow extension, Persistent open anterior f... OMIM:304150
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Micrognathia, Cleft palate OMIM:183700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Wide anterior fontanel, Wormian bones, Shortening of all phalanges... OMIM:601356
Ivic Syndrome
Short 1st metacarpal, Absent thumb, Short thumb, Preaxial polydactyly, Short clavicles, Short fem... OMIM:147750
Hall-Riggs Syndrome
Thick vermilion border, Abnormal metaphysis morphology, Joint stiffness, Abnormal epiphysis morph... ORPHA:2107
Craniodiaphyseal Dysplasia, Autosomal Dominant
Concave nasal ridge, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis... OMIM:122860
48,Xxxy Syndrome
Down-sloping shoulders, Elbow dislocation, Inguinal hernia, Hip dislocation, Mandibular prognathi... ORPHA:96263
Hurler Syndrome
Macroglossia, Calvarial hyperostosis, Flexion contracture, Joint stiffness, Metaphyseal widening,... OMIM:607014
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... OMIM:619773
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormality of the dentition, Reduced bone mineral density, Abnormal metaphysis m... ORPHA:582
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Supernumerary ribs, Joint contracture of the hand, Camptodactyly, Lateral clavicle hoo... OMIM:182212
Multiple Epiphyseal Dysplasia Type 1
Knee joint hypermobility, Finger joint hypermobility, Hip dysplasia, Genu varum, Joint stiffness,... ORPHA:93308
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Oculodentodigital Dysplasia, Autosomal Recessive
Hypoplasia of teeth, Fifth finger distal phalanx clinodactyly, Broad long bones, Dental crowding,... OMIM:257850
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Platyspondyly, Short femur, Short f... OMIM:619598
Intellectual Developmental Disorder, Autosomal Dominant 21
Cleft palate, Narrow mouth, Long philtrum, Thin vermilion border, Incisor macrodontia, Patent duc... OMIM:615502
Multiple Epiphyseal Dysplasia Type 4
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatarsal, Cleft p... ORPHA:93307
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal hip bone morphology, Abnormal dental enamel morphology, Bila... ORPHA:3236
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand ORPHA:1118
Qazi-Markouizos Syndrome
Open mouth, Hypoplasia of teeth, Delayed ossification of carpal bones, Broad philtrum, High, narr... ORPHA:3010
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Restrictive Dermopathy 1
Congenital pseudoarthrosis of the clavicle, Osteolytic defects of the distal phalanges of the han... OMIM:275210
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Slender build, Dense metaphyseal bands, Osteopenia, Failure to thrive,... ORPHA:50811
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... ORPHA:319487
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... OMIM:617405
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Micrognathia, Crumpled long bones, Abnormal rib morphology, Delay... ORPHA:2050
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Wide anterior fontanel, Wormian bones, Osteopenia, Crumpled long bones, Delayed... OMIM:610682
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft palate, Short palpebral fissure, Blepharophimosis, Cleft upper lip, ... OMIM:601349
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Orofacial Cleft 15
Epicanthus, Sparse eyelashes, Upslanted palpebral fissure, Euryblepharon, Bilateral cleft lip, Ag... OMIM:616788
Dysosteosclerosis
Oligodontia, Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Absent ... OMIM:224300
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Mandibular prognathia, Short clavicles, Tapered finger, Highly arched eyebrow, Small ... ORPHA:401923
Hypochondroplasia
Scoliosis, Abnormal metaphysis morphology, Genu varum, Bowing of the long bones, Brachydactyly, A... ORPHA:429
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Joint stiffness, Flat acetabular roof, Mis... ORPHA:1801
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth OMIM:614450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Large fontanelles, Abnormal epiphysi... ORPHA:93267
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Progeroid Syndrome, Petty Type
Wide anterior fontanel, Short distal phalanx of finger, Mandibular prognathia, Decreased skull os... ORPHA:2963
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Abnormal epiphysis morphology, Decreased circulating T4 concentration, Elevated circulati... ORPHA:226313
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Bilateral coxa valga, Abnormal ilium morphology ORPHA:163665
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, So... OMIM:602418
Liang-Wang Syndrome
Macroglossia, Diastema, Synophrys, Downslanted palpebral fissures, Everted lower lip vermilion, D... OMIM:618729
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Reduced bone mineral density, Microdontia, Osteopenia, Recurrent fractu... OMIM:112240
Hypophosphatasia, Childhood
Craniosynostosis, Rachitic rosary, Premature loss of primary teeth, Carious teeth, Bowing of the ... OMIM:241510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ... OMIM:241530
Auriculocondylar Syndrome 3
Retrognathia, Bifid uvula, Ectropion, Glossoptosis, Micrognathia OMIM:615706
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:300123
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Lumbar hyperlordosis, Narrow greater sciatic notch, Irregular vertebral endplates, Fla... OMIM:609616
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Frank-Ter Haar Syndrome
Premature loss of teeth, Camptodactyly of finger, Osteolysis, Joint stiffness, Inguinal hernia, U... ORPHA:137834
Cohen Syndrome
Single transverse palmar crease, Open mouth, Narrow palm, Short metatarsal, Short metacarpal, Hig... OMIM:216550
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Short ribs, Wide anterior fontanel, Anterior rib cupping, Mesomelic/rhizomelic ... ORPHA:2347
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, High palate, Epicanthus, Synophrys, Mandibular prognathia, Narrow... ORPHA:1327
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Hip dislocation, Short thumb, Malar flattening, Finger syndactyl... ORPHA:3258
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Sparse lateral eyebrow, Short philtrum, Natal tooth, Cleft palate OMIM:617337
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome