Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pelvic girdle bone morphology Runx2em1(IMPC)Rbrc HET Early adult 4.67×10-06
abnormal vertebrae morphology Runx2em1(IMPC)Rbrc HET   Early adult 8.79×10-05
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 clavicle 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
decreased prepulse inhibition Runx2em1(IMPC)Rbrc HET Early adult 6.28×10-12
decreased bone mineral content Runx2em1(IMPC)Rbrc HET Early adult 5.95×10-08
decreased startle reflex Runx2em1(IMPC)Rbrc HET Early adult 1.08×10-05
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
increased lean body mass Runx2em1(IMPC)Rbrc HET Early adult 4.39×10-05

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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

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

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.

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, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Thick eyebrow, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of... OMIM:119650
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Cone-shaped e... ORPHA:71267
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentiti... ORPHA:2026
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Steatocystoma Multiplex
Natal tooth OMIM:184500
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Ankyloblepharon, Tooth agenesis ORPHA:1074
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me... ORPHA:1452
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hypermobili... OMIM:301014
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Genu valgum, Small epiphyses, Joint hypermobility, Inguinal hernia, Mand... OMIM:618363
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Hypodontia, Oral... OMIM:226650
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Short middle phalanx of the 5... ORPHA:63442
Pyle Disease
Limited elbow extension, Genu valgum, Reduced bone mineral density, Cubitus valgus, Delayed erupt... OMIM:265900
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Bent Bone Dysplasia Syndrome 1
Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Hirsutism, Coro... OMIM:614592
Crane-Heise Syndrome
Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ... ORPHA:1512
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Delayed... OMIM:184260
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate, Blepharophi... ORPHA:2016
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Dental malocclusion, Blepharophimosis, Horner s... OMIM:141300
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Pycnodysostosis
Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of ... OMIM:265800
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Syngnathia
Cleft palate OMIM:119550
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger syndactyly, Flexion contr... OMIM:203550
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J... ORPHA:1040
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the dentition, Bowin... ORPHA:2501
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed... ORPHA:79106
Parc Syndrome
Absent eyelashes, Cleft palate, Microretrognathia, Absent eyebrow OMIM:600331
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f... OMIM:620198
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Jo... ORPHA:1515
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo... OMIM:234250
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:261800
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Multiple prenatal fractures, Short lower limbs, Multiple rib fr... OMIM:259440
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of th... ORPHA:1350
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612463
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Cleft palate, Epicanthus, Long ... OMIM:618761
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal ... ORPHA:2643
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Short nose, Abnormal bone ossification, Abnormal femoral neck/hea... ORPHA:163649
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Bell-shaped thorax, Short clavicles, Gingival overgrowth, Hirsuti... ORPHA:313855
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A... ORPHA:971
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Multiple prenatal fractures,... OMIM:259420
Megaepiphyseal Dwarfism
Cleft palate, Epicanthus OMIM:249230
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter... OMIM:113000
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
48,Xyyy Syndrome
Thick lower lip vermilion, Dislocated radial head, High palate, Enamel hypoplasia, Irregularly sp... ORPHA:99329
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Bencze Syndrome
Submucous cleft hard palate, Open bite, Upslanted palpebral fissure, Telecanthus ORPHA:1241
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Narrow chest, Flared metaphysis, Increased bone mineral density, Broad clavicles, Met... ORPHA:50945
Medial Condensing Osteitis Of The Clavicle
Abnormal clavicle morphology, Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro... OMIM:212780
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Atrophic scars, Syndactyly OMIM:226700
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, Limitation of ... ORPHA:3098
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures OMIM:168550
Osteogenesis Imperfecta, Type Vi
Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Bowing of the leg... OMIM:613982
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Diaphyseal undertubulation, Rhizomelia, Clinodactyly of the 5th fin... ORPHA:1453
Desbuquois Dysplasia 2
Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Knee ... OMIM:615777
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate, Ankyloblepharon OMIM:106250
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge... ORPHA:2769
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Anauxetic Dysplasia 3
Retrognathia, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of finger, Metaphy... OMIM:618853
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Abnormality of th... ORPHA:3268
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Micro... OMIM:619736
Rhizomelic Syndrome
Rhizomelia, Wide anterior fontanel, Micrognathia, Bifid distal phalanx of the thumb, Complete dup... OMIM:268250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent... OMIM:613684
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Mandibular pr... OMIM:269300
Osteogenesis Imperfecta, Type Viii
Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Thi... OMIM:610915
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Abnormal eyebrow morphology, Delayed eruption of teeth ORPHA:1816
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Thoracol... ORPHA:15
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue... OMIM:300602
Van Maldergem Syndrome 1
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Camptodactyly, Short fourth metatarsal, ... OMIM:601390
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal clavicle morphology, Abnormal cortical... ORPHA:3416
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Shaheen Syndrome
Enamel hypoplasia, Carious teeth, Palmoplantar hyperkeratosis OMIM:615328
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... ORPHA:181
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Downslanted palpebral fissures... OMIM:157980
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Ulnar deviation... OMIM:615546
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:311895
Tetrasomy X
Clinodactyly of the 5th finger, Abnormality of the dentition, Brachydactyly, Radioulnar synostosi... ORPHA:9
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Hypoplastic pelvis, Absent thumb, Hypoplastic scapulae OMIM:618022
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79405
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Bulging of t... OMIM:277440
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Wide distal fem... OMIM:614856
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palmar crease, Serr... OMIM:272440
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed eruption of teeth, De... OMIM:264700
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower lip vermilion,... OMIM:600920
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Single transve... OMIM:201170
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Short clavicles, Dental crowding, Osteolytic defects of the distal phalanges of the... OMIM:608612
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Bilateral cleft palate, Abnormal eyelid morphology, Euryblepharon, Anal atresia, D... ORPHA:1997
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Diaphyseal dysplasia, Osteoporosis, Epiphyseal dysplasia, Metaphyseal dy... OMIM:614727
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility ORPHA:2787
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo... OMIM:613573
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Anal ... ORPHA:2863
Xylt1-Cdg
Long philtrum, Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Hirsutism,... ORPHA:370930
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... OMIM:619489
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Chromosome 22Q11.2 Duplication Syndrome
High palate, Downslanted palpebral fissures, Velopharyngeal insufficiency, Micrognathia, Epicanthus OMIM:608363
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Abnormal size of the palpebral fi... ORPHA:3214
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:10
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Hypothyroidism, Decreased ci... OMIM:275100
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Adducted thumb, Single transverse palmar crease, Notched primary central incisor, Brachydactyly OMIM:620062
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling OMIM:614859
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Joint dislocation, Short clavicles, High palate, Microretrognathia, Joint h... OMIM:606220
Grant Syndrome
Large fontanelles, Abnormal cortical bone morphology, Narrow chest, Wormian bones, Decreased skul... ORPHA:2097
Tetrasomy 12P
Telecanthus, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermil... ORPHA:884
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Wormian bones, N... OMIM:619322
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Thin upper lip vermilion, Epicanthus ORPHA:2015
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... ORPHA:1570
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short long bone, Decreased sk... OMIM:263210
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Retrognathia, Short clavicles, Recurrent shoulder dislocation, Finger joint contractu... OMIM:212112
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har... ORPHA:2521
Intellectual Developmental Disorder, X-Linked 90
Upslanted palpebral fissure, Bifid uvula, High palate, Malar flattening OMIM:300850
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Enlarged Parietal Foramina
Broad thumb, Craniosynostosis, Short clavicles ORPHA:60015
Sponastrime Dysplasia
Short long bone, Aplasia of the nasal bone, Mesomelia, Metaphyseal irregularity, Joint hypermobil... ORPHA:93357
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Thin ribs, Tibial bowing, B... OMIM:613848
Seckel Syndrome 5
Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agen... OMIM:613823
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,... OMIM:210720
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Velopharyngeal insufficiency OMIM:617732
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Wo... ORPHA:970
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Aplasia/hypoplasia of the hum... ORPHA:198
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, ... OMIM:616507
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Wide anterior fontanel, Abnormal d... ORPHA:85199
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Palmoplantar keratoderma, Oral muc... ORPHA:79402
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec... OMIM:259710
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Congenital hip dislocation, Achilles tendon contrac... OMIM:619719
Seckel Syndrome 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... OMIM:210600
Ramon Syndrome
Narrow palate, Abnormal dental enamel morphology, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Epicanthus, Delayed eruption of perm... OMIM:618506
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Mulibrey Nanism
Thickened cortex of long bones, Absent frontal sinuses, Dental crowding, Single transverse palmar... OMIM:253250
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Sweeney-Cox Syndrome
Short philtrum, Narrow chest, Wide anterior fontanel, Short clavicles, 2-5 toe syndactyly, High p... OMIM:617746
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Chromosome 16Q22 Deletion Syndrome
Narrow chest, Wide anterior fontanel, Single transverse palmar crease, Prominent metopic ridge, M... OMIM:614541
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Highly arched eyebrow, Dental crowding, High palate, Downslanted palpe... OMIM:618825
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Hyperkeratosis, 4-5 toe syndactyly, Alope... OMIM:308050
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Epicanthus, Sparse eyebrow, Dental malocclusion OMIM:619692
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Joint stiffness, Short distal phalanx of finger, Coxa valga, Elbow flexion contr... OMIM:248370
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavatum, Short humeru... OMIM:309350
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Carious teeth, Genu varum, Coxa valga OMIM:613312
Saul-Wilson Syndrome
Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ... OMIM:618150
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Subcut... OMIM:103580
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Highly arched eyebrow, Hig... OMIM:617412
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Irr... OMIM:609324
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepatocellular carcinoma, Osteoporosis... ORPHA:231226
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the... ORPHA:52056
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, High palate, Coronal crani... OMIM:616294
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Palmoplantar hyperkeratosis ORPHA:363523
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... ORPHA:750
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... ORPHA:952
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hep... OMIM:612840
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Ollier Disease
Abnormal metaphysis morphology, Anemia, Micromelia, Joint stiffness, Abnormal cartilage morpholog... ORPHA:296
Osteogenesis Imperfecta, Type Xi
Osteopenia, Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Recur... OMIM:610968
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
Mandibuloacral Dysplasia
Abnormal tongue morphology, Short clavicles, Dental crowding, Osteolytic defects of the distal ph... ORPHA:2457
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia, Hypoplas... ORPHA:557003
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Peroxisome Biogenesis Disorder 7A (Zellweger)
Wide anterior fontanel, Large posterior fontanelle, Talipes equinovarus, Epiphyseal stippling OMIM:614872
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepat... ORPHA:231214
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo... ORPHA:53697
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of p... OMIM:618727
Sclerosteosis
Diaphyseal undertubulation, Abnormality of the nose, Abnormal cortical bone morphology, Craniofac... ORPHA:3152
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Anteverted nare... OMIM:313420
Cdags Syndrome
Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, ... OMIM:603116
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc... ORPHA:166108
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Pectus carinatum, Arachnodactyly, Bifid uvula, Joint hypermobility, Crani... OMIM:130070
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Severe short stature, ... ORPHA:2307
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Velopharyngea... OMIM:129400
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hip subluxation, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcyti... OMIM:259720
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Downslanted palpebral fissures, Epicanthus, Dental malocclusion OMIM:618292
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ... ORPHA:2636
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Oligodontia, Short long bone, Tracheobro... OMIM:619184
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Dow... ORPHA:2563
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Highly arched eyebrow, Dental c... OMIM:618342
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... OMIM:600081
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing... OMIM:302350
Pycnodysostosis
Hypoplastic iliac wing, Mesomelia, Joint hypermobility, Delayed eruption of primary teeth, Short ... ORPHA:763
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Dentinoge... OMIM:166220
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Cachexia... ORPHA:824
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Anemia, Short hallux, A... ORPHA:337
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl... OMIM:612350
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of... OMIM:619269
Braddock-Carey Syndrome 1
Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin ... OMIM:619980
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome... ORPHA:231222
Metatropic Dysplasia
Narrow greater sciatic notch, Long coccyx, Flat acetabular roof, Flared iliac wing, Flared humera... OMIM:156530
Mesomelic Limb Shortening And Bowing
Retrognathia, Micrognathia, Cleft palate OMIM:249710
Craniofrontonasal Dysplasia
Sandal gap, Pectus excavatum, Low posterior hairline, Joint hypermobility, Craniosynostosis, Wido... ORPHA:1520
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger... OMIM:166200
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Cranioectodermal Dysplasia 4
Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finge... OMIM:614378
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Brittle Cornea Syndrome 1
Congenital hip dislocation, Dentinogenesis imperfecta, Joint hypermobility, Atypical scarring of ... OMIM:229200
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide anterior fontan... OMIM:207410
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Flat acetabula... OMIM:609052
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Sparse eyelashes, Sparse eyebrow, Natal tooth, Hypodontia OMIM:601345
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Aplasia/hypoplasia inv... ORPHA:75508
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Snijders Blok-Campeau Syndrome
Widely spaced teeth, High palate, Enamel hypoplasia, Epicanthus, Taurodontia OMIM:618205
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612462
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal... OMIM:601957
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Patent ductus arteriosus, Short philtrum, Ex... OMIM:619293
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Enamel hypoplasia, Carious teeth, Increased connective tissue, Palmop... OMIM:226670
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Wide anterior fontanel... ORPHA:1860
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Failure to thrive, Joint contracture, Respiratory ... OMIM:616081
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Downslanted palpebral fissures, Micrognathia, Hypoplasia of t... ORPHA:3145
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Micrognathia, Cleft palate, Epicanthus ORPHA:1779
Short Stature, Brussels Type
Calcification of cartilage, Microretrognathia, Delayed epiphyseal ossification ORPHA:2867
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Esophageal stricture, Delayed eruption of teeth OMIM:616029
Congenital Atransferrinemia
Hypothyroidism, Arthritis, Anemia ORPHA:1195
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, High palate, Abnormal metacarpal morphology ORPHA:2233
Potocki-Shaffer Syndrome
Delayed puberty, Anemia, Decreased skull ossification, Depressed nasal tip, Hypothyroidism, Micro... ORPHA:52022
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
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... ORPHA:69087
Chime Syndrome
Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Apl... ORPHA:3474
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth... ORPHA:2204
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology, Wide nasal bridge... ORPHA:1513
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Acrocallosal Syndrome
Abnormal clavicle morphology, Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydac... ORPHA:36
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Abnormal eyelid morphology, Abnormal nasolacrimal system morph... ORPHA:3220
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Sparse eye... OMIM:616367
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi... ORPHA:2107
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma... ORPHA:3344
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Restrictive Dermopathy 2
Short clavicles, Hypoplastic facial bones, Microretrognathia, Overtubulated long bones OMIM:619793
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Carious teeth, Abnormality of the dentition, Radioulnar synostosis ORPHA:3270
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Enlargement of the costochondral junction, Delayed eruption of teeth, Delayed epiphyseal... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped... OMIM:307800
Eem Syndrome
Widely spaced teeth, Selective tooth agenesis, Microdontia, Absent eyebrow, Abnormal dental morph... ORPHA:1897
Frank-Ter Haar Syndrome
Broad clavicles, Short long bone, Pectus excavatum, Wormian bones, Anteverted nares, Camptodactyl... OMIM:249420
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Slender build, Slender long bones with narrow diaphyses, Dense met... ORPHA:50811
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e... ORPHA:2050
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Wide anterior fo... OMIM:610682
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper... OMIM:275000
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Ear-Patella-Short Stature Syndrome
Retrognathia, Clinodactyly of the 5th finger, Slender long bone, Abnormal epiphysis morphology, M... ORPHA:2554
48,Xxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Inguinal hernia, ... ORPHA:96263
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... ORPHA:93307
Uvula, Bifid
Bifid uvula OMIM:192100
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4th finger, Bipar... OMIM:608545
Occipital Horn Syndrome
Limited elbow extension, Long philtrum, Coarse hair, Genu valgum, Narrow chest, Short clavicles, ... OMIM:304150
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... ORPHA:2741
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Abnorm... ORPHA:582
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... ORPHA:1782
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Cleft palate, Malar flattening OMIM:183700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Large fontanelles, Rhizomelia, Prox... ORPHA:93267
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal palate morphology, Clinodactyly of the 5th f... ORPHA:3236
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Limitation of ... ORPHA:1801
Hurler Syndrome
Diaphyseal undertubulation, Cranial hyperostosis, Short clavicles, Gingival overgrowth, Calvarial... OMIM:607014
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Micrognathia, Cleft palate, Malar flattening, Lower eyelid coloboma OMIM:618939
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Micrognathia, De... OMIM:112240
Qazi-Markouizos Syndrome
High, narrow palate, Delayed ossification of carpal bones, Hypoplasia of teeth, Open mouth, Broad... ORPHA:3010
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Thick... OMIM:122860
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Delayed epiphyseal ossification, ... ORPHA:226313
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk calcification, Flat capit... OMIM:614135
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, C... OMIM:147750
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Euryblepharon, Distichiasis, Sparse eyelashes, Sparse eye... OMIM:616788
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperi... ORPHA:94089
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Delayed eru... OMIM:257850
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Joint hypermobility, ... OMIM:182212
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Microphthalmia, Syndromic 8
Orofacial cleft, Short palpebral fissure, Mandibular prognathia, Cleft upper lip, Cleft palate, B... OMIM:601349
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Single transverse palmar crease, Incisor macrodontia, Narrow mouth, Cleft ... OMIM:615502
Birk-Barel Syndrome
Short philtrum, Highly arched eyebrow, High palate, Long eyelashes, Bifid uvula, Submucous cleft ... OMIM:612292
Restrictive Dermopathy 1
Rocker bottom foot, Temporomandibular joint ankylosis, Overtubulated long bones, Absent eyelashes... OMIM:275210
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula... ORPHA:1832
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho... ORPHA:3258
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Sh... OMIM:617405
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Short clavicles, Mandibular prognathia, Tapered finger, Small ... ORPHA:401923
Auriculocondylar Syndrome 4
Narrow mouth, Micrognathia, Cleft palate, Glossoptosis OMIM:620457
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... ORPHA:2347
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Wide anterior fontanel, Mandibular prognathia, Decreased skull os... ORPHA:2963
Hypophosphatasia, Childhood
Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... OMIM:241510
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del... OMIM:241530
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Camptodactyly Syndrome, Guadalajara Type 1
Telecanthus, Highly arched eyebrow, Mandibular prognathia, Open bite, High palate, Narrow mouth, ... ORPHA:1327
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ... ORPHA:137834
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth OMIM:614450
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Abnormal dental e... ORPHA:96264
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Increased intervertebral space, Scoliosis... OMIM:256050
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... ORPHA:1798
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Synophrys, Downturned corners of mouth, Downsla... OMIM:618729
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Sparse lateral eyebrow, Cleft palate, Natal tooth, Short philtrum OMIM:617337
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness, Flex... OMIM:300717
Craniosynostosis 3
Right unicoronal synostosis, Dental malocclusion, Bicoronal synostosis, Single transverse palmar ... OMIM:615314
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv... OMIM:216550
Aredyld Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology,