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Gene: Ibsp MGI:96389

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin binding sialoprotein
Synonyms:
BSP,  Bsp,  bone sialoprotein,  Bsp2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ibsp mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia OMIM:190320
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Craniosynostosis 3
Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn... OMIM:615314
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Broad long bones, Wide anterior fontanel, Malar flattening,... OMIM:269300
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... OMIM:601561
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Ramon Syndrome
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, A... ORPHA:3019
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wide anterior fontanel, Coxa valga, Increased bone mineral density, Malar flattening... ORPHA:85184
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Short toe, Hypodontia, Recurrent mandibular subluxa... OMIM:225410
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fon... ORPHA:163649
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... OMIM:265900
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Wormian bones, Upper limb undergrowth, Pathologic fr... ORPHA:166277
Hyaline Fibromatosis Syndrome
Failure to thrive, Gingival overgrowth, Flexion contracture, Osteopenia, Osteoporosis, Gingival f... OMIM:228600
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognath... OMIM:259420
Intermediate Osteopetrosis
Dental malocclusion, Cortical sclerosis, Osteomyelitis, Recurrent fractures, Osteosclerosis of th... ORPHA:210110
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Clinodactyly of the 5th finger, Genu re... ORPHA:137834
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... ORPHA:3352
Gorham-Stout Disease
Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Abnormal bone ossificati... ORPHA:73
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... OMIM:612350
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Oligodontia, Broad foot, Osteolysis, Ankle sw... OMIM:221810
Familial Expansile Osteolysis
Premature loss of teeth, Fragile teeth, Thin bony cortex, Pathologic fracture, Osteolysis, Bowing... OMIM:174810
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Ca... ORPHA:2501
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Muenke Syndrome
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flatt... OMIM:602849
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... OMIM:613849
Xanthoma Disseminatum
Osteolysis, Abnormal lip morphology ORPHA:158003
Juvenile Hyaline Fibromatosis
Joint stiffness, Gingival overgrowth, Gingival fibromatosis, Osteolysis, Progressive flexion cont... ORPHA:2028
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Micrognathia, Camptodactyly of finger, Cachexia, Slender long bone,... ORPHA:2774
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Anterior... OMIM:610967
Peroxisome Biogenesis Disorder 7A (Zellweger)
High palate, Wide anterior fontanel, Talipes equinovarus, Large posterior fontanelle, Long philtr... OMIM:614872
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi... OMIM:604922
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Splenomegaly, A... ORPHA:61
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Wide anterior fontanel, C... ORPHA:3098
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Failure to thrive, Wide anterior fontanel, Tooth agenesis, Everte... ORPHA:2963
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... OMIM:619795
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, W... OMIM:610915
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:601390
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Short clavicles, Wide anterior fontanel, Talipes equinovarus, M... OMIM:615546
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Wide anterior fontanel, Narrow greater sciatic notch, Flexion contra... OMIM:263210
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Micrognathia, Short 1s... OMIM:619135
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus,... OMIM:608545
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor... OMIM:190350
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Oligodontia, Osteoarthritis, Brachydactyly, Abnormality of the wris... ORPHA:1657
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Abnormality of the tongue, Hypodontia, Abnormality of the dentition, ... ORPHA:659
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Abnormality of t... ORPHA:93160
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Taurodontia, Thin vermilion border, Cutaneous finger syndactyly, ... OMIM:614378
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... OMIM:619489
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Failure to thrive, Hypoplasia of the primary... OMIM:234250
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth, Oste... ORPHA:71267
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Brachydactyly, High, narrow palate, Joint laxity OMIM:619692
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Osteolysis, Cleft palate ORPHA:494
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... OMIM:613684
Mulibrey Nanism
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Enamel hypoplasia, Hypoplastic f... OMIM:253250
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... OMIM:619736
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... OMIM:146300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Short femur, Adducted thumb, Micrognathia, Osteopenia, ... OMIM:616897
Otopalatodigital Syndrome, Type Ii
Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rud... OMIM:304120
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Wide anterior fontanel, Cleft palate, Malar flattening, Osteopenia, High... OMIM:607812
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Decreased body weight, Prominence of the premaxilla, Delayed closure of t... OMIM:614886
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Tapered f... OMIM:300602
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Wormian bones, ... OMIM:259440
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Rhizomelic Syndrome
Wide anterior fontanel, Micrognathia, Rhizomelia, Bifid distal phalanx of the thumb, Complete dup... OMIM:268250
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Pseudopseudohypoparathyroidism
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Obesity, Short metatar... OMIM:612463
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Anemia, Inflammation of the large intestine, Arthritis, Abnormal epiphysis morphol... ORPHA:324964
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Failure to thrive, Joint stiffness, Microretrognathia, Flexion contracture, ... OMIM:614008
Lowry-Maclean Syndrome
Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ... ORPHA:2409
Gomez-Lopez-Hernandez Syndrome
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... OMIM:601853
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Tapered f... OMIM:300431
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... OMIM:618150
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Wide mouth, Wide anterior fontanel, Ectopic anus, Anal atresia, Cleft... ORPHA:85199
Anauxetic Dysplasia 3
Wide anterior fontanel, Metaphyseal cupping, Retrognathia, Femoral bowing, Oligodontia, Trident h... OMIM:618853
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Frank-Ter Haar Syndrome
High palate, Wide mouth, Osteopenia, Bowing of the long bones, Short long bone, Talipes equinovar... OMIM:249420
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Cleft palate, Abnormally ossified vertebrae, Glossoptosis, Micrognathia, D... ORPHA:94068
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Reduced bone mineral... ORPHA:3079
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Tibial bowing, Hypophosphatemic rickets, Coxa vara,... ORPHA:289176
48,Xxyy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Cleft palate, Open bite, Delayed eruption of teeth, ... ORPHA:10
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Failure to thrive, Micrognathia, Osteopenia, Deep philtrum, Con... ORPHA:329178
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Dislocated radial head, Narrow palate, Talipes equinovarus, Gen... OMIM:182212
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna... OMIM:265800
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eruption of teeth, Small ... OMIM:184260
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Flexion contracture, Narrow foramen obturatorium, Xerostomia, Arthritis, Carious t... ORPHA:220393
Chromosome 16Q22 Deletion Syndrome
High palate, Failure to thrive, Wide anterior fontanel, Small for gestational age, Micrognathia, ... OMIM:614541
Osteoglosphonic Dysplasia
Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Brachydactyly, Rhizom... ORPHA:2645
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteolysis, Generalized osteoporosis, Malar flattening OMIM:176670
Mu-Heavy Chain Disease
Splenomegaly, Anemia, Osteoporosis, Abnormal B cell count, Osteolysis, Weight loss ORPHA:100024
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion, Arthrogryposis multiplex congenita OMIM:608931
Tenosynovial Giant Cell Tumor
Joint swelling, Joint stiffness, Limitation of joint mobility, Chondrocalcinosis, Abnormality of ... ORPHA:66627
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... OMIM:147060
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia OMIM:618292
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Failure to thrive, Narrow mouth, Wide anterior fontanel, Malar flattening, Congenita... OMIM:219200
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, D... OMIM:601812
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Wi... OMIM:619719
Cohen Syndrome
Neutropenia, Macrodontia of permanent maxillary central incisor, High, narrow palate, Joint hyper... OMIM:216550
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Malar flattening, Flexion contracture, Arachnodactyly, Femoral bowing, Co... OMIM:207410
Hamamy Syndrome
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... OMIM:611174
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Osteosarcoma
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... ORPHA:668
Infantile Myofibromatosis
Bone cyst, Chondrocalcinosis, Tracheoesophageal fistula, Gingival fibromatosis, Intestinal obstru... ORPHA:2591
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... OMIM:210600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Grant Syndrome
Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibil... ORPHA:2097
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... OMIM:616331
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... OMIM:147891
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Narrow mouth, Aplasia/Hypoplasia of the clavicles, Abnormality of... ORPHA:90154
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion OMIM:155050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Osteopen... ORPHA:251028
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Zellweger Syndrome
High palate, Failure to thrive, Abnormality of the tongue, Wide anterior fontanel, Malabsorption,... ORPHA:912
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... ORPHA:1327
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... OMIM:201170
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Short distal phalanx of finger, Flexion contracture, Aplasia/Hypoplasia of the clavi... ORPHA:90153
Filippi Syndrome
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... OMIM:272440
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the l... OMIM:602080
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Felty Syndrome
Sinusitis, Limitation of joint mobility, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Ar... ORPHA:47612
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxat... OMIM:259600
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Bowing of the legs, Trapezoida... OMIM:307800
Dubowitz Syndrome
High palate, Wide mouth, Craniosynostosis, Abnormality of the dentition, Delayed eruption of teet... ORPHA:235
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Joint dislocation, Cleft palate, Short femur, Abnormal... ORPHA:1190
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... ORPHA:1858
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Wide anterior fontanel, Short ribs, Cleft palate, Narrow greater sciatic notch, Pos... OMIM:617925
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... OMIM:112350
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Sparse bone trabeculae,... OMIM:600081
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Short 1st metacarp... OMIM:114290
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Delayed cl... OMIM:224300
Fibrochondrogenesis 1
Cleft palate, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent coronal sutur... OMIM:228520
Hypophosphatasia, Childhood
Bowing of the legs, Premature loss of primary teeth, Craniosynostosis, Carious teeth OMIM:241510
Hajdu-Cheney Syndrome
High palate, Dental malocclusion, Premature loss of teeth, Dislocated radial head, Crowded carpal... OMIM:102500
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Osteopenia, Diastema, Microdontia, Osteoporosis, Bicorona... OMIM:619718
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Dental malocclusion, Multiple joint contractures, Hypodontia, Fra... ORPHA:2959
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Wide anterior fontanel, 2-5 finger cutaneous syndactyly, Small hand, Mic... OMIM:619339
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Dislocated ... OMIM:101800
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Narrow mouth, 2-3 toe syndactyly, Wide anterior fontanel, Decrea... OMIM:617063
Rothmund-Thomson Syndrome
Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Microdontia... ORPHA:2909
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Short clavicles, Flexion contracture, Microgn... OMIM:608612
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation OMIM:211900
Wrinkly Skin Syndrome
High palate, Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Microdontia, Cari... OMIM:278250
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... OMIM:616294
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Hypoplastic verteb... OMIM:263540
Ollier Disease
Joint stiffness, Micromelia, Osteolysis, Abnormal metaphysis morphology, Anemia ORPHA:296
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, 2-... OMIM:269500
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Aplas... ORPHA:221016
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, 3-4 toe syndactyly, Taurodontia, Cleft palate, Microdon... OMIM:164200
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... ORPHA:2780
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog... ORPHA:2471
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft palate, Delayed closure of the anterior fontanelle, Thick lower lip vermilion,... OMIM:300373
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Joint swelling, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Stom... OMIM:612852
Apert Syndrome
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm s... OMIM:101200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Femoral bowing present at birth, st... OMIM:166220
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, S... ORPHA:93324
Femoral-Facial Syndrome
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... ORPHA:1988
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Os... OMIM:266920
48,Xxxy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Open bite, Down-s... ORPHA:96263
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, Failure to thrive, ... OMIM:249630
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... OMIM:136300
Hajdu-Cheney Syndrome
Cleft palate, Abnormality of the dentition, Osteopenia, Osteolysis, Bowing of the long bones, Pat... ORPHA:955
Oculodentodigital Dysplasia
Cleft palate, Carious teeth, Abnormal metaphysis morphology, Mandibular prognathia, Abnormal cort... ORPHA:2710
Chime Syndrome
Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, A... ORPHA:3474
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Duplication of the di... OMIM:268310
Papillon-Lefèvre Syndrome
Periodontitis, Tooth agenesis, Arachnodactyly, Abnormality of the dentition, Premature loss of pr... ORPHA:678
Lissencephaly, X-Linked, 2
High palate, Wide anterior fontanel, Long upper lip, Micrognathia, Long philtrum, Thin upper lip ... OMIM:300215
Osteogenesis Imperfecta, Type Vii
Coxa vara, Bowing of the legs, Wide anterior fontanel, Recurrent fractures, Femoral retroversion,... OMIM:610682
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short finge... OMIM:103580
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Hypoplastic vertebral bodies, Increased b... ORPHA:1782
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Premature loss of teeth, Short distal phalanx of finger, Short clavicles, Joint stif... OMIM:248370
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Failure to thrive, Ulnar deviation of the hand, Wide anterior fontanel, Talipes equi... OMIM:214100
Marden-Walker Syndrome
High palate, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, High, narrow palate, Clef... OMIM:248700
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... OMIM:259710
3Mc Syndrome 1
Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... OMIM:257920
Gamma-Heavy Chain Disease
Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Abnormal pal... ORPHA:100026
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... OMIM:601957
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... OMIM:264475
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth, Cutaneous finger syn... OMIM:203550
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Failure to thrive, Flexion contracture, Micrognathia, Osteopenia, Short humerus, Rhi... OMIM:222765
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruptio... ORPHA:221008
Localized Scleroderma
Dental malocclusion, Abnormal facial skeleton morphology, Flexion contracture, Abnormality of the... ORPHA:90289
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Wide mouth, Wide anterior fontanel, Deep plantar creases, Long ph... OMIM:616638
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Gingival overgrowth, Short clavicles, Bowing of the legs, Coron... ORPHA:313855
Osteogenesis Imperfecta, Type Xi
Coxa vara, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, Protrusio acetabu... OMIM:610968
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia, Pes cavus, Joint contracture of the 5th finger, P... OMIM:617258
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatospl... OMIM:259730
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Hallux valgus OMIM:615541
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt... OMIM:612731
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... OMIM:200990
20P13 Microdeletion Syndrome
Wide anterior fontanel, Decreased body weight, Finger syndactyly, Brachydactyly, Polydactyly, Ten... ORPHA:313781
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Rectal prolapse, Talipes equinovarus, Retrognathia, Gingival overgrowt... OMIM:235510
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... OMIM:612462
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... OMIM:119600
49,Xxxxy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Open bite, Down-s... ORPHA:96264
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... OMIM:265000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... OMIM:241530
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joi... ORPHA:53
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Short toe, Supernumerary tooth, High, narrow palate, Abnormal fin... ORPHA:2980
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... ORPHA:75508
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... OMIM:218400
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... ORPHA:56304
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... OMIM:251190
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, ... ORPHA:2863
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... ORPHA:1798
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Plantar hyperkeratosis, Carious teeth... OMIM:226650
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Abnor... ORPHA:371428
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Short 1st metacarpal, Natal tooth, ... OMIM:201050
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Dental malocclusion, Wide mouth, Clinodactyly of the 5th finger, ... OMIM:619293
Taurodontism
Taurodontia OMIM:272700
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Wormian... OMIM:166200
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Macrodontia, Cl... OMIM:617883
Aggressive Systemic Mastocytosis
Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Anemia, Hepatosplenomega... ORPHA:98850
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, Pathologic ... ORPHA:77259
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... ORPHA:166272
Temple-Baraitser Syndrome
High palate, Wide mouth, Gingival overgrowth, Short distal phalanx of finger, Long hallux, Malar ... ORPHA:420561
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Sweeney-Cox Syndrome
High palate, Anal atresia, Narrow mouth, Short clavicles, Wide anterior fontanel, Cleft palate, M... OMIM:617746
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... OMIM:619269
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Short clavicles, Hypodontia, Reduced bone mineral density, Microg... OMIM:619322
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Hallermann-Streiff Syndrome
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... OMIM:234100
Gapo Syndrome
Eruption failure, Wide anterior fontanel, High, narrow palate, Abnormality of the dentition, Micr... OMIM:230740
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Splenomegal... ORPHA:3473
Porphyria, Congenital Erythropoietic
Erythrodontia, Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemo... OMIM:263700
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Genu valgum, A... ORPHA:800
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Joint stiffness, Coxa valga, Joint dislocation, Hiatus hernia, Retrognathia, Micrognat... ORPHA:1901
Smith-Magenis Syndrome
Cleft upper lip, Joint stiffness, Taurodontia, Clinodactyly of the 5th finger, Cleft palate, Micr... ORPHA:819
Acrodysostosis
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... ORPHA:950
Lessel-Kreienkamp Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Wide cranial sutures, Open mouth, Thin upper... OMIM:619149
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Congenital hip dislocation, Wormian bones, Delayed erupt... OMIM:614450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... ORPHA:50814
Potocki-Lupski Syndrome
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Small for gestational age, Micro... OMIM:610883
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Micrognathia, Brachydactyly, Diastema ORPHA:436245
Incontinentia Pigmenti
Absent hand, Hypodontia, Finger syndactyly, Camptodactyly of finger, Eosinophilia, Delayed erupti... ORPHA:464
Short Syndrome
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Delayed eruption of tee... OMIM:269880
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Brachyd... OMIM:619184
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Desmoid Tumor
Malabsorption, Intestinal obstruction, Osteolysis, Intestinal polyposis, Limitation of joint mobi... ORPHA:873
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Cleft palate, Tracheomalacia, Micrognathia, Brachydactyly, Syndactyly, Do... OMIM:217980
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Failure to thrive, Arachnodactyly, Abnormal shoul... ORPHA:2115
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Lymphopenia, Hypodontia, Small for gestational age, Anemia, Shallow acetabular... ORPHA:1830
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion, Flexion contracture, Arachnodactyly, Pyloric stenosis, Slender toe OMIM:310400
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Abnormality of the dentition, Osteomalacia, Abnormality of the lower li... OMIM:193100
Robinow Syndrome, Autosomal Dominant 1
High palate, Triangular mouth, Duplication of the distal phalanx of hand, Delayed eruption of tee... OMIM:180700
Opitz-Kaveggia Syndrome
Dental crowding, Wide mouth, Multiple joint contractures, Cleft palate, Prominent fingertip pads,... OMIM:305450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Micrognathia, Osteo... ORPHA:73272
Mcdonough Syndrome
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Clinodactyly, Radial deviatio... OMIM:248950
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Cleft palate, Craniosynostosis, Flared iliac wing, Micrognathia, ... ORPHA:949
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Long philtrum... ORPHA:357058
48,Xyyy Syndrome
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Radioulnar synostos... ORPHA:99329
Classic Hodgkin Lymphoma
Weight loss, Osteolysis, Splenomegaly ORPHA:391
Alg9-Cdg
Wide mouth, Ulnar deviation of the hand, Abnormal bone ossification, Microretrognathia, Talipes e... ORPHA:79328
Dyskeratosis Congenita
Recurrent fractures, Periodontitis, Taurodontia, Malabsorption, Hypodontia, Splenomegaly, Anemia,... ORPHA:1775
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft l... OMIM:618761
Alpha-Mannosidosis, Infantile Form
Joint stiffness, Cortical thickening of long bone diaphyses, Macroglossia, Craniosynostosis, Bila... ORPHA:309282
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Splenomegaly, Cachexi... ORPHA:1133
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... ORPHA:440354
Sapho Syndrome
Recurrent fractures, Malabsorption, Osteomyelitis, Steatorrhea, Inflammation of the large intesti... ORPHA:793
Kenny-Caffey Syndrome, Type 1
Small hand, Anemia, Slender long bone, Carious teeth, Short foot, Delayed closure of the anterior... OMIM:244460
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... OMIM:157980
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Hiatus hernia, Splenomegaly, Osteopenia, Long philtrum, Sagittal craniosy... OMIM:610199
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... ORPHA:2741
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del... OMIM:612921
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Hyperextensibility of the finger joints, Congenital hip dislocat... OMIM:619797
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Abnormal long bone morphology, Osteolysis, Increased... ORPHA:52430
Heart And Brain Malformation Syndrome
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Camptodactyly of finger... OMIM:616920
Tetrasomy 5P
High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ... ORPHA:3309
Bone Marrow Failure Syndrome 3
Failure to thrive, Metaphyseal dysplasia, Hypodontia, Reduced bone mineral density, Micrognathia,... OMIM:617052
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... OMIM:201000
Chromomycosis
Abnormal oral cavity morphology, Ankylosis, Osteolysis, Abnormal foot morphology, Abnormality of ... ORPHA:182
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Reduced bone mineral density, Micrognathia, Carious teeth, Congenital pyloric atresia,... ORPHA:2617
Schinzel-Giedion Syndrome
High palate, Wide mouth, Short 1st metacarpal, Short philtrum, Delayed eruption of teeth, Radioul... ORPHA:798
Achondroplasia
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... ORPHA:15
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Mccune-Albright Syndrome
Dental malocclusion, Abnormality of femur morphology, Monostotic fibrous dysplasia, Fibrous dyspl... ORPHA:562
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Long philtru... OMIM:617877
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Decreased body weight, Increased bone mineral density, Thin vermilion bor... OMIM:614856
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Os... OMIM:259700
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Genu recurvatum... ORPHA:364028
Trigonocephaly With Short Stature And Developmental Delay
High palate, Clinodactyly of the 5th finger, Small for gestational age, Premature posterior fonta... OMIM:314320
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Multinucleated giant ... OMIM:108720
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Abnormality of the dentition,... ORPHA:2314
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short philtru... ORPHA:96334
Osteogenesis Imperfecta
Abnormality of femur morphology, Abnormality of the dentition, Osteopenia, Femoral bowing, Microm... ORPHA:666
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Malar flattening, Generalized joint laxity, Micrognathia, Osteopenia, ... OMIM:613848
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Small for gestational age, Premature posterior fontanelle closure, Metopic suture pa... ORPHA:3369
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... OMIM:603463
Laron Syndrome
Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... ORPHA:633
Restrictive Dermopathy 1
Limb joint contracture, Narrow mouth, Temporomandibular joint ankylosis, Short clavicles, Wide an... OMIM:275210
Nail-Patella Syndrome
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... ORPHA:2614
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... OMIM:311300
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... OMIM:251450
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Macroglossia OMIM:275100
Craniosynostosis And Dental Anomalies
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, 2-3 toe syndactyly, Coronal... OMIM:614188
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Hypoplastic ... OMIM:245190
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the long bones, Mandibular pr... OMIM:166250
Infantile Systemic Hyalinosis
Failure to thrive, Gingival overgrowth, Joint stiffness, Recurrent fractures, Malabsorption, Stea... ORPHA:2176
Oliver Syndrome
High palate, Dental malocclusion, Short toe, Clinodactyly of the 5th finger, Prominent fingertip ... ORPHA:2920
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Tooth malposition, Malar flattening, Failure... ORPHA:2769
Kabuki Syndrome 2
High palate, Dental malocclusion, Decreased body weight, Hypodontia, Cleft palate, Prominent fing... OMIM:300867
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Abnormality of limb bone morphology, Downturned corners of mouth, Smooth philt... ORPHA:251009
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Downturned corners of mouth, Rhizomelia, Abnormal epiphysis morphol... ORPHA:93267
Growth Hormone Insensitivity Syndrome
Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Large... ORPHA:181393
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Abnormality of the dentition, Micrognathia, Femoral bowing, Wormian bones, T... OMIM:617952
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Open bite, H... OMIM:115150
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... ORPHA:94089
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Prominent fingertip pads, Broad hallux, Hypoplasia of the maxilla, Dup... OMIM:180849
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Tooth agenesis, Microretrognathia, Small for gestational age, Osteopenia, De... OMIM:616229
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Transaldolase Deficiency
Wide mouth, Wide anterior fontanel, Failure to thrive, Small for gestational age, Thin vermilion ... OMIM:606003
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Micromeli... ORPHA:1860
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Acrofrontofacionasal Dysostosis 2
High palate, Wide anterior fontanel, Syndactyly, Broad hallux, Broad thumb, Hand polydactyly OMIM:239710
Pachydermoperiostosis
Joint swelling, Malabsorption, Osteomyelitis, Splenomegaly, Small hand, Anemia, Osteoporosis, Gen... ORPHA:2796
Aarskog-Scott Syndrome
Cleft upper lip, Clinodactyly of the 5th finger, Genu recurvatum, Cleft palate, Everted lower lip... ORPHA:915
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Osteopenia, Sagittal craniosynostosis, Open mouth, Intestinal pse... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Osteopenia, Sagittal craniosynostosis, Open mouth, Intestinal pse... ORPHA:352665
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Wide anterior fontanel, Thin upper lip vermilion, Long philtrum OMIM:613623
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Distal Monosomy 12Q
Long foot, Broad hallux, Pyloric stenosis, Failure to thrive in infancy, Clinodactyly of the 5th ... ORPHA:96149
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Femoral bowing, Osteoporosis, Carious teeth OMIM:126550
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Long hallux, Increased bone mineral d... OMIM:259775
Fibrochondrogenesis
Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Micromel... ORPHA:2021
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Anemia of inadequate production, Calvarial hyperostosis, Steatorrhea, Osteopen... OMIM:612714
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Overlapping toe, Anal atresia, Velopharyngeal ins... ORPHA:363444
Kyphomelic Dysplasia
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... OMIM:211350
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Small for gestational age, Hypoplasia of the thymus, Decreased proportion... OMIM:617241
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Brachydactyly, Notched primary central incisor, Adducted thumb OMIM:620062
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Wide anterior fontanel ORPHA:44
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Overlapping toe, Cleft palate, Overlapping fingers, Long philtr... OMIM:618975
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Small for gestational age, Absent/hypoplastic paranasal sinuses, Prematur... ORPHA:488437
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... ORPHA:2325
H Syndrome
Cleft upper lip, Recurrent fractures, Gingival overgrowth, Malabsorption, Histiocytosis, Hepatosp... ORPHA:168569
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Craniofaciofrontodigital Syndrome
Dental malocclusion, Hypoplastic vertebral bodies, Abnormality of the dentition, Palmoplantar cut... OMIM:114620
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... OMIM:300554
Peters-Plus Syndrome
Cleft palate, Craniosynostosis, Square pelvis bone, Rhizomelia, Hypoplasia of the maxilla, Anteri... OMIM:261540
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Cranial hyperostosis, Hypodontia, Natal tooth OMIM:601345
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... OMIM:616202
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... ORPHA:93307
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Neu... ORPHA:2643
Spondyloenchondrodysplasia
Short distal phalanx of finger, Dental malocclusion, Metaphyseal dysplasia, Bowing of the legs, J... ORPHA:1855
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Bro... OMIM:300990
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... ORPHA:1328
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Twelfth rib hypoplasia, Absent frontal sinuses, Abnormality of dental eruption, Hall... OMIM:211910
Hepatoerythropoietic Porphyria
Erythrodontia, Splenomegaly, Osteopenia, Osteoporosis, Hemolytic anemia, Osteolysis, Erythroid hy... ORPHA:95159
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Cleft palate, Short ri... ORPHA:2347
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, La... ORPHA:436
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Failure to thrive, Hypodontia, Thin vermilion border, Abnormality... ORPHA:289
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Oligodon... OMIM:618727
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Small for gestational age, Short philtrum, Anterior open-bite mal... OMIM:123450
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Genu varum, Carious teeth, Genu valgum, Hypoplasia of teeth, Coxa valga OMIM:613312
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Camptodactyly of finger, Large hands, Abnormal dental ... ORPHA:3220
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... OMIM:302350
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... OMIM:616354
Flynn-Aird Syndrome
Cachexia, Bone cyst, Joint stiffness, Carious teeth ORPHA:2047
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Joint contracture of the hand, Malar flattening, Micrognathia, Camptodactyly OMIM:608257
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture closure, Gingival fibroma... ORPHA:1832
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, High, narrow palate, Tapered finger, Open mouth, Hypoplasia... ORPHA:3010
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Genu valgum, A... ORPHA:534
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... OMIM:252100
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:170390
Scarf Syndrome
Short sternum, Craniosynostosis, Long philtrum, Enamel hypoplasia, Hypocalcification of dental en... ORPHA:3134
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Mucopolysaccharidosis Type 4
Wide mouth, Joint dislocation, Reduced bone mineral density, Abnormality of the dentition, Grayis... ORPHA:582
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Brachydactyly, Enamel hypoplasia, Sandal gap, Mandibular prognathia OMIM:600991
Epidermolysis Bullosa, Junctional 1B, Severe
Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Wormian bon... OMIM:601356
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... OMIM:311450
7Q11.23 Microduplication Syndrome
High palate, Dental malocclusion, Craniosynostosis, Retrognathia, Micrognathia, Short philtrum, T... ORPHA:96121
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Flexion cont... ORPHA:2712
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Palmoplantar keratoderma, Anemia, Oral mucosal blisters ORPHA:79402
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Craniosynostosis, Osteopenia, Femoral bowing, Short femoral ne... OMIM:616723
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... OMIM:612447
Ctcf-Related Neurodevelopmental Disorder
Failure to thrive, Narrow mouth, Clinodactyly of the 5th finger, Macrodontia of permanent maxilla... ORPHA:363611
Hall-Riggs Syndrome
Wide mouth, Failure to thrive, Joint stiffness, Brachydactyly, Delayed eruption of teeth, Downtur... ORPHA:2107
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Constricted iliac wing, Metaphysea... OMIM:253010
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... OMIM:309350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... ORPHA:50945
Chst3-Related Skeletal Dysplasia
Enlarged joints, Flexion contracture, Long philtrum, Delayed eruption of teeth, Irregular epiphys... ORPHA:263463
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Carious teeth OMIM:613680
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Bifid uvula, Hamarto... ORPHA:137888
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... OMIM:604757
Congenital Erythropoietic Porphyria
Erythrodontia, Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia... ORPHA:79277
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Clinodactyly OMIM:618506
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Wide anterior fontanel, Contracture of the proximal interphalangeal joint of the 4th... ORPHA:457279
Takenouchi-Kosaki Syndrome
Dental malocclusion, Wide mouth, Overlapping toe, Short philtrum, Long philtrum, Tapered finger, ... OMIM:616737
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... OMIM:210720
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Failure to thrive, Taurodontia, Macrodontia of pe... ORPHA:444072
Mixed Connective Tissue Disease
Joint swelling, Joint stiffness, Gastritis, Splenomegaly, Leukopenia, Xerostomia, Arthritis, Hemo... ORPHA:809
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79405
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Dental malocclusion, Narrow palate, Clinodactyly of the 5th finger, Down... OMIM:227330
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Micrognathia, Small hand, Long philtrum, Sagittal craniosynostosis, Nat... OMIM:145420
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Microdontia, Osteoporosis, Carious teeth, Esophageal stricture, Pterygium, Throm... OMIM:224230
Antley-Bixler Syndrome
Joint stiffness, Narrow mouth, Recurrent fractures, Elbow ankylosis, Cleft palate, Craniosynostos... ORPHA:83
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Failure to thrive, Joint hypermobility, Malar flattening, Osteopenia, Congenital hip... OMIM:612940
Fontaine Progeroid Syndrome
Craniosynostosis, Microdontia, Anteriorly placed anus, Mandibular prognathia, Short distal phalan... OMIM:612289
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Coffin-Lowry Syndrome
High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Advanced eruption of teeth, Tap... ORPHA:192
Cockayne Syndrome B
Dental malocclusion, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Severe fail... OMIM:133540
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Failure to thrive, High, narrow palate, Arachnoda... OMIM:601095
Brachydactyly, Type E2
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal OMIM:613382
Geroderma Osteodysplasticum
Recurrent fractures, Periodontitis, Tibial bowing, Malar flattening, Hyperextensibility of the fi... OMIM:231070
Mpdu1-Cdg
Thin vermilion border, Wide anterior fontanel, Prominent frontal sinuses ORPHA:79323
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... ORPHA:884
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short... OMIM:607143
Cole-Carpenter Syndrome
Recurrent fractures, Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Wormian bon... ORPHA:2050
Shwachman-Diamond Syndrome
Steatorrhea, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Carious teeth, Macrocytic an... ORPHA:811
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Elbow dislocation, Absent knee epiphyses... OMIM:210710
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Celiac Disease, Susceptibility To, 1
Failure to thrive, Steatorrhea, Osteoporosis, Macrocytic anemia, Enamel hypoplasia, Stomatitis, I... OMIM:212750
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Bone cyst, Osteolysis, Craniofacial hyperostosis ORPHA:2396
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... ORPHA:536467
Hypophosphatemic Rickets
Failure to thrive, Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Abn... ORPHA:437
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Sparse bone trabeculae,... OMIM:300009
Sponastrime Dysplasia
Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip subluxation, Small epiphy... ORPHA:93357
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Persistence of primary teeth, Stenosis of the medulla... ORPHA:93325
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Hypermobile Ehlers-Danlos Syndrome
Gingival overgrowth, Malabsorption, Joint dislocation, Abnormality of the dentition, Osteoarthrit... ORPHA:285
Amelogenesis Imperfecta, Hypomaturation Type, Iia4