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Gene: Ibsp MGI:96389

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.

Human diseases associated with Ibsp (0 diseases)
Human diseases predicted to be associated with Ibsp (985 diseases)

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	Matching phenotypes	Source
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ...	OMIM:615314
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Broad long bones,...	OMIM:269300
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi...	OMIM:620099
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis, Abnormality of the dentition	ORPHA:2776
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Abnormality of ...	ORPHA:163649
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Ging...	OMIM:228600
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint...	ORPHA:137834
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Delayed eruption of teeth, Short metacarpal, Pes planus, Camptodactyly ...	OMIM:612350
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph...	ORPHA:73
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Cone-shaped epiphyses of...	OMIM:602849
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Xanthoma Disseminatum	Abnormal lip morphology, Osteolysis	ORPHA:158003
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Joint stiffness, Gingival fibromatosis, Gingival overgrowth, Os...	ORPHA:2028
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os...	ORPHA:2774
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Peroxisome Biogenesis Disorder 7A (Zellweger)	Large posterior fontanelle, Wide anterior fontanel, Epiphyseal stippling, High palate, Talipes eq...	OMIM:614872
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Open bite, Splenomega...	ORPHA:61
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Wid...	ORPHA:3098
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe...	OMIM:610915
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Progeroid Syndrome, Petty Type	Mandibular prognathia, Failure to thrive, Wide anterior fontanel, Tooth agenesis, Everted lower l...	ORPHA:2963
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion ...	OMIM:263210
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bow...	OMIM:277440
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bow...	OMIM:619135
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Wide anterior fontanel, Dental malocclusion, Cleft palate, Radia...	OMIM:608545
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the dentition, Abnormal foot morphology, Osteoarthritis, Osteol...	ORPHA:1657
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Thin vermilion border, Taurodontia...	OMIM:614378
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormalit...	ORPHA:93160
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m...	OMIM:253250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bow...	OMIM:264700
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp...	OMIM:234250
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Osteolysis, Cleft palate	ORPHA:494
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Delayed closure of the anterior fontan...	OMIM:225410
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Delaye...	OMIM:607812
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa...	OMIM:619736
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren...	OMIM:616897
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip ...	OMIM:300602
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Joint stiffness...	OMIM:614008
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Wide anterior fontanel,...	OMIM:614886
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei...	ORPHA:324964
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, Wormian bones, Mala...	OMIM:601853
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Dental crowding, Sandal gap, Short toe, P...	OMIM:617877
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay...	ORPHA:2409
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Enamel hypo...	OMIM:612463
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio...	OMIM:610682
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Pes planus, Abnormal dental enamel morphology, Talipes, Ope...	ORPHA:10
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m...	ORPHA:3079
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Anal atresia, Abnormal dental morphology, Abnormal dental enamel morp...	ORPHA:85199
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu...	ORPHA:329178
Diffuse Cutaneous Systemic Sclerosis	Malabsorption, Carious teeth, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Narrow fora...	ORPHA:220393
Anauxetic Dysplasia 3	Short metacarpal, Brachydactyly, Wide anterior fontanel, Trident hand, Squared iliac bones, Genu ...	OMIM:618853
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental...	OMIM:613684
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Arachnodactyly, Craniosynostosis, Microgna...	OMIM:182212
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Small for gestational age, Broad hallux, Micrognathia, Wide anterior fon...	OMIM:614541
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Hutchinson-Gilford Progeria Syndrome	Malar flattening, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Osteoglosphonic Dysplasia	Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Tooth agenesis, Multipl...	ORPHA:2645
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosinophilia, Hi...	OMIM:147060
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate	OMIM:618292
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Polyarticular arthropath...	ORPHA:66627
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Infantile Myofibromatosis	Intestinal obstruction, Bone cyst, Limitation of joint mobility, Gingival fibromatosis, Osteolysi...	ORPHA:2591
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal...	OMIM:210600
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel	OMIM:614859
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Large fontanelles, Decrease...	ORPHA:2097
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Joint swelling, Abnormal tibial ...	ORPHA:668
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Cohen Syndrome	Pes planus, Short metacarpal, Small for gestational age, Micrognathia, Hypoplasia of the maxilla,...	OMIM:216550
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Abnormality of ...	ORPHA:90154
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormality of the dentition, Flexion contracture, Limitatio...	ORPHA:90153
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope...	ORPHA:1327
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Congenital hip dislocation, Carious teeth, Wide anterior fontanel, High palate, Narro...	OMIM:219200
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Felty Syndrome	Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of joint mobility, Splenomegal...	ORPHA:47612
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Zellweger Syndrome	Micrognathia, Malabsorption, Wide anterior fontanel, Pyloric stenosis, Abnormality of the tongue,...	ORPHA:912
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ...	OMIM:619718
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Small for gestational age, Selective toot...	ORPHA:2959
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp...	ORPHA:1858
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, High...	OMIM:201170
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt...	OMIM:272440
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro...	OMIM:112240
Rosaï-Dorfman Disease	Osteolysis, Anemia	ORPHA:158014
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the legs	OMIM:241510
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Large posterior fontanelle, Hamartoma of tongue, Micrognathia, Postaxial polydactyly...	OMIM:617925
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o...	OMIM:600002
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest...	OMIM:101800
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, High palate, Lambdoidal...	OMIM:616294
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi...	OMIM:257850
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Ab...	ORPHA:2471
Ollier Disease	Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia	ORPHA:296
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicular a...	OMIM:608612
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi...	ORPHA:221016
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti...	OMIM:610968
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly...	OMIM:269500
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Pes planus, Abnormal dental enamel morphology, ...	ORPHA:96263
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Micr...	OMIM:214150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Abscess, Splenomegaly, Per...	OMIM:612852
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, W...	OMIM:278250
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cleft palate, Orofacial cleft, Coxa vara, Ab...	ORPHA:1988
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinod...	OMIM:266920
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi...	OMIM:601957
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, High palate, Long philtrum, Long ...	OMIM:300215
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Arachnodactyly, Prema...	ORPHA:678
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion	OMIM:615541
Myopathy, Myofibrillar, 8	Pes planus, Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, ...	OMIM:617258
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, F...	OMIM:248370
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Obesity, Short metatarsal, ...	OMIM:103580
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Localized Scleroderma	Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facial skeleton ...	ORPHA:90289
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut...	OMIM:203550
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Large for gestational age, Micrognathia	OMIM:618272
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Rocker bottom foot, Protruding tongue, Micrognathia, High, narrow pa...	OMIM:214100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Enamel hypoplasia, Clinodactyly, Hip di...	OMIM:164200
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Wide anterior fontanel, Pyloric ...	OMIM:248700
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Micrognathia, Bowing o...	ORPHA:313855
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Pes planus, Abnormal dental enamel morphology, ...	ORPHA:96264
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender lon...	OMIM:612731
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Failure to thrive in inf...	ORPHA:313781
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin...	ORPHA:371428
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Small for gestational age, Micrognathia, Dental malocclus...	OMIM:610883
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small for gestational age, Abnormal finger flexion c...	ORPHA:2980
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Pes planus, Exaggerated cupid's bow, Tapered finger, Flex...	OMIM:619293
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
3Mc Syndrome 1	Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Cleft lip, Wide ...	OMIM:257920
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Hallermann-Streiff Syndrome	Natal tooth, Wormian bones, Small for gestational age, Selective tooth agenesis, Micrognathia, Hi...	OMIM:234100
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal phalanx of finger...	OMIM:616638
Taurodontism	Taurodontia	OMIM:272700
Snijders Blok-Campeau Syndrome	Joint laxity, Abnormal foot morphology, Taurodontia, High palate, Widely spaced teeth, Enamel hyp...	OMIM:618205
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Tented upper lip vermilion, Failure to thrive in infancy, Toe ...	ORPHA:819
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia...	OMIM:226650
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Dysostosis, Stanescu Type	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Abnormal dent...	ORPHA:1798
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Decreased body weight, Wrist flexion contractur...	ORPHA:800
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:241530
Aggressive Systemic Mastocytosis	Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteoly...	ORPHA:98850
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of...	OMIM:271665
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Abnormal ...	ORPHA:1901
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Large fontanelle...	ORPHA:50814
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis...	ORPHA:3473
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Genu valgum, Slender long bones...	OMIM:608154
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Obesity, Enamel hypo...	OMIM:612462
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Large knee, D...	OMIM:619269
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clinodactyly, Failu...	OMIM:617883
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Abnormal femoral head mor...	ORPHA:1830
Desmoid Tumor	Intestinal polyposis, Intestinal obstruction, Malabsorption, Limitation of joint mobility, Osteol...	ORPHA:873
48,Xyyy Syndrome	Pes planus, Abnormal foot morphology, Thick lower lip vermilion, Irregularly spaced teeth, Radiou...	ORPHA:99329
Harrod Syndrome	Arachnodactyly, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibility, Abnorm...	ORPHA:2115
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ...	OMIM:614450
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Pyloric stenosis, Flexion contracture, Dental malocclusion, Slender toe, High palate	OMIM:310400
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Classic Hodgkin Lymphoma	Splenomegaly, Osteolysis, Weight loss	ORPHA:391
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper...	ORPHA:88630
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial sutu...	ORPHA:357058
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Avascular ne...	OMIM:190351
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Dyskeratosis Congenita	Esophageal stenosis, Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentitio...	ORPHA:1775
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Genu valgum, Ulnar devi...	ORPHA:949
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp...	OMIM:618761
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Abnormality of the lower limb, Rickets, Hypophosphate...	OMIM:193100
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Pierre-Robin sequence, C...	OMIM:619184
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mandibular prognathia, Pancytopenia, Craniosynostosis, Joint stiffness,...	ORPHA:309282
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Wide anterior fontanel, Pierre-Robin seque...	OMIM:217980
Au-Kline Syndrome	Prominent metopic ridge, Failure to thrive, Overlapping toe, Craniosynostosis, Sagittal craniosyn...	OMIM:616580
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Sp...	ORPHA:1133
Meier-Gorlin Syndrome 7	Joint laxity, 2-4 finger syndactyly, Anal stenosis, Craniosynostosis, Sagittal craniosynostosis, ...	OMIM:617063
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteolysis, Pathologic fracture, Joint...	OMIM:263700
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Pes planus, Genu recurvatum, Slender build, Narrow palate, S...	ORPHA:364028
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ...	OMIM:157980
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Small for gestational age, Micrognathia, Metatarsus adductus...	OMIM:614866
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Anteriorly placed anus, Prominent fin...	OMIM:305450
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper...	ORPHA:52430
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Prominent metopic ridge, Ulnar deviation of the hand...	ORPHA:79328
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Micrognathia, Osteoporosis, Truncal obesity...	ORPHA:73272
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Prominent calcaneus, S...	OMIM:612921
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Sweeney-Cox Syndrome	2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Micrognathia, As...	OMIM:617746
Chromomycosis	Abnormal foot morphology, Ankylosis, Abnormality of the lower limb, Osteolysis, Abnormal oral cav...	ORPHA:182
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b...	OMIM:244460
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Malabsorption, Abnormal sacroiliac joint morphology, Craniofa...	ORPHA:793
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Mccune-Albright Syndrome	Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclus...	ORPHA:562
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca...	OMIM:259700
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Protruding tongue, Intestinal...	OMIM:300963
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis...	OMIM:616507
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower lip...	OMIM:616920
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Tetrasomy 5P	Overlapping toe, Short hallux, Micrognathia, Wide anterior fontanel, Long fingers, High palate, T...	ORPHA:3309
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Carious teeth, Congenital pyloric atresia, Reduced bone mineral density,...	ORPHA:2617
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, Short proximal p...	ORPHA:15
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle...	OMIM:300867
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ...	ORPHA:798
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos...	OMIM:604757
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Ankylosis, Wide anterior f...	OMIM:275210
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, High, n...	OMIM:230740
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational...	OMIM:616229
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Hallux valgus, Dental ...	OMIM:614188
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Large...	ORPHA:96334
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Mic...	OMIM:115150
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Osteoarthritis, Abnormality of the elbow, Short toe, Too...	ORPHA:633
Hypothyroidism, Congenital, Nongoitrous, 4	Macroglossia, Wide anterior fontanel	OMIM:275100
Trigonocephaly With Short Stature And Developmental Delay	Small for gestational age, Sagittal craniosynostosis, Premature posterior fontanelle closure, Sma...	OMIM:314320
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Pes planus, Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nas...	ORPHA:3369
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Large fontanelle...	ORPHA:93267
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:352665
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Short Syndrome	Joint laxity, Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognat...	OMIM:269880
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Pachydermoperiostosis	Osteomyelitis, Peptic ulcer, Malabsorption, Splenomegaly, Limitation of joint mobility, Osteoporo...	ORPHA:2796
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Steatorrhea, Calvarial ...	OMIM:612714
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Talipes, Delayed closure of the anterior fontanelle, Abnormal limb bone morphology,...	ORPHA:251009
Maffucci Syndrome	Osteolysis, Recurrent fractures	ORPHA:163634
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Thin upper lip vermilion, Sagittal craniosynostosis, Hiatus hernia, Wide anterior fon...	OMIM:610199
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Thin vermilion border, Flexion contracture, Failure to thrive	OMIM:609180
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Pes planus, Genu recurvatum, Camptodact...	ORPHA:915
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,...	OMIM:100800
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,...	OMIM:618975
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Micrognathia, Hypoplasia of the ma...	OMIM:180849
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Wide anterior fontanel, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Wide anterior fontanel, Deep philtrum, Thrombocytopenia,...	OMIM:606003
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Wide anterior fontanel, Decreased propor...	OMIM:617241
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mic...	OMIM:259775
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Neonatal Adrenoleukodystrophy	Wide anterior fontanel, Abnormal palate morphology	ORPHA:44
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
H Syndrome	Hallux valgus, Pes planus, Recurrent fractures, Cleft upper lip, Microcytic anemia, Malabsorption...	ORPHA:168569
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi...	ORPHA:1855
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Cerebellofaciodental Syndrome	Pes planus, Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the finger...	OMIM:616202
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename...	ORPHA:73223
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Small for gestational age, Wide anterior fontanel, Prematur...	ORPHA:488437
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Abnormality of ...	ORPHA:95699
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brach...	ORPHA:2643
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hy...	ORPHA:95159
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Cleft palate, ...	ORPHA:2021
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab...	ORPHA:436
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, O...	ORPHA:534
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo...	OMIM:618188
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal...	OMIM:261540
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Rapp-Hodgkin Syndrome	Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien...	OMIM:129400
Qazi-Markouizos Syndrome	Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, O...	ORPHA:3010
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Small for gestational age, Metatarsu...	OMIM:123450
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Flynn-Aird Syndrome	Carious teeth, Bone cyst, Cachexia, Joint stiffness	ORPHA:2047
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Large h...	ORPHA:3220
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Large fontanelles, Gingival overgrowth, Gingival fibromatosis, Mandibular aplasia, ...	ORPHA:1832
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental maloc...	ORPHA:85321
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Brachydactyly, Dental crowding, Splenomegaly, Macroglossia, High palat...	OMIM:616354
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Scarf Syndrome	Craniosynostosis, Joint hyperflexibility, Short sternum, Long philtrum, Enamel hypoplasia, Hypoca...	ORPHA:3134
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin upper lip vermilion, Prominent fingertip pads, Broad hallux phalanx, Small for g...	ORPHA:363611
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Pyloric stenosis, Enamel hypoplasia, Failure to thrive	OMIM:226700
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:582
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li...	OMIM:601356
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Palmoplantar keratoderma, Anemia, Oral mucosal blisters	ORPHA:79402
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Pes planus, Short lingual frenulum, Craniosynostosis, Micrognathia, Dia...	ORPHA:96121
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Del...	OMIM:613320
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered ...	OMIM:616737
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveolar ridge overgro...	ORPHA:444072
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Celiac disease, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Re...	OMIM:212750
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo...	ORPHA:79277
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod...	ORPHA:284984
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ...	OMIM:309350
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Braddock-Carey Syndrome 1	Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed anus, Everted lo...	OMIM:619980
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Submucous cleft hard pa...	OMIM:222765
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Mixed Connective Tissue Disease	Hemolytic anemia, Gastritis, Joint stiffness, Splenomegaly, Xerostomia, Osteolysis, Arthritis, Jo...	ORPHA:809
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub...	ORPHA:2712
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Flexion contracture, Ab...	ORPHA:263463
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep philtrum...	OMIM:227330
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79405
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Osteoporosis, Palmoplantar hy...	OMIM:224230
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, High palate,...	OMIM:612940
Cockayne Syndrome B	Mandibular prognathia, Small for gestational age, Delayed eruption of primary teeth, Carious teet...	OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S...	ORPHA:457279
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi...	OMIM:612289
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower l...	OMIM:618342
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Wormian bones, Malabsorption, Abnormality of the dentition, Elbow ...	ORPHA:285
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Short 5th metacarpal, Wormian bones, Short 4th metacarpal...	OMIM:619638
Dent Disease 1	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Micrognathia, Osteolysis, Cleft palate, Acute lymphoblastic leukemia, Colon...	ORPHA:1052
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79406
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t...	ORPHA:2457
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Osteochondrosis	ORPHA:2396
Mpdu1-Cdg	Wide anterior fontanel, Thin vermilion border, Prominent frontal sinuses	ORPHA:79323
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho...	ORPHA:811
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival overgrowth, Clef...	OMIM:616894
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ...	OMIM:614976
Acrocallosal Syndrome	Wide anterior fontanel, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:36
Phelan-Mcdermid Syndrome	Micrognathia, Dental malocclusion, 2-3 toe syndactyly, Large hands, High palate, Widely spaced te...	OMIM:606232
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosi...	ORPHA:1299
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2962
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Failure to thrive, Large fontanelles	OMIM:614883
Noonan Syndrome 4	Large for gestational age, Dental malocclusion, Wide mouth, Thick vermilion border, Cubitus valgu...	OMIM:610733
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate...	ORPHA:2108
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Clinod...	ORPHA:2804
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Coffin-Siris Syndrome 3	Joint laxity, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Del...	OMIM:614608
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79444
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion...	ORPHA:2671
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation...	OMIM:268400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal zygomatic bone morpholo...	ORPHA:2511
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Microdontia, Anodontia, Joint laxity, Rhiz...	OMIM:218330
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Overlapping to...	OMIM:616723
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79411
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Mitten deformity, Enamel...	ORPHA:251393
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu...	ORPHA:464329
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Mucopolysaccharidosis, Type Iva	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth,...	OMIM:253000
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Joint stiffness, Grayish ename...	OMIM:253010
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti...	OMIM:259100
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ...	OMIM:613823
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia, Anemia, Palmoplantar hyperkeratosis	OMIM:226670
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Abs...	OMIM:606895
Donnai-Barrow Syndrome	Malar flattening, Wide anterior fontanel, Short sternum, Intestinal malrotation	OMIM:222448
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Pes planus, Bif...	OMIM:303600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Failure to thrive in infancy	OMIM:619064
Mend Syndrome	Broad hallux, Overlapping toe, Asymmetry of the mouth, Micrognathia, Wide anterior fontanel, Long...	ORPHA:401973
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Pes planus, Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High...	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Splenom...	OMIM:216400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Large fontanelles, Triangular shaped distal phalanges of the ...	ORPHA:73230
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia	OMIM:601357
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Joint swelling, Abnormal ...	ORPHA:35687
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Chikungunya	Joint stiffness, Periostitis, Ankle joint effusion, Osteolysis, Synovitis, Enthesitis, Pedal edem...	ORPHA:324625
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Pat...	ORPHA:221120
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal...	ORPHA:3238
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Wide mouth, Macroglossia, Recurrent aphthous sto...	OMIM:616260
Opitz Gbbb Syndrome	Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, Wide anterior fontanel, Cleft p...	OMIM:300000
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur...	ORPHA:355
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Palmoplantar hyperkeratosis	ORPHA:363523
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short humerus, Short femur, Small for gestational age, Rhizomelia, Sand...	OMIM:607143
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal...	ORPHA:2063
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cachexia, Cone-sha...	ORPHA:808
Scarf Syndrome	Short sternum, Lambdoidal craniosynostosis, Long philtrum, Coronal craniosynostosis, Enamel hypop...	OMIM:312830
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thin upper lip vermilion, Talipes, Severe generalized osteoporosis, Micrognathia...	OMIM:210730
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Rickets, Steatorrhea	OMIM:607748
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl...	OMIM:615560
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Bone cyst, Osteolysis, Anemia, Narrow iliac wing, Abnormal ...	ORPHA:3042
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Large fontan...	ORPHA:1525
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Abnormal ...	ORPHA:2067
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Palmoplantar cutis laxa	OMIM:229200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Brachydactyly, Sandal gap, Thick lower lip vermilion, Cleft palate, Wi...	OMIM:614607
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic...	OMIM:619356
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum	OMIM:618825
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Downturned corners of mouth, Deep...	OMIM:618548
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Hypophosphatasia, Infantile	Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Micromelia, Increased suscept...	OMIM:241500
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Pes planus, Congenital hip dislocation, Delayed closure of...	ORPHA:2834
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Exaggerated cupid's bow, Camptodactyly of finger, Ara...	ORPHA:2215
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79443
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int...	ORPHA:69087
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty...	OMIM:175700
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Abnormal dental en...	ORPHA:2616
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Palmoplantar keratoderma, Hypodontia	ORPHA:1816
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stricture, Osteoporosis, ...	OMIM:613989
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum...	ORPHA:487796
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Small anterior fontanelle, Volvulus	OMIM:617802
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Oligodontia, Short 5th finger,...	ORPHA:557003
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpus...	OMIM:127550
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Donnai-Barrow Syndrome	Wide anterior fontanel, Intestinal malrotation	ORPHA:2143
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Intestinal perforation, Osteolysis involving bones of the upper limbs, Osteolysi...	ORPHA:464321
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Cleft palate, Anteriorly placed anus...	ORPHA:3338
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Prolidase Deficiency	Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Genu valgum, Reduced bone mineral dens...	ORPHA:742
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Craniosynostosis, Micrognathia, Carious teeth, Absent thum...	ORPHA:96097
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Joint hypermobility, Duodenal atresia	OMIM:617798
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Pes val...	OMIM:619131
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ...	ORPHA:3455
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia	ORPHA:83601
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Small for gestational age, Rh...	OMIM:614813
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia...	OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel	OMIM:618240
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplas...	ORPHA:79396
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral ...	ORPHA:828
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o...	ORPHA:2136
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Equinovarus defo...	ORPHA:466722
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, Anteriorly pl...	OMIM:123790
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Cdags Syndrome	Anal atresia, Sagittal craniosynostosis, Rectourethral fistula, Large fontanelles, Cleft palate, ...	OMIM:603116
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesomelia, Palm...	OMIM:616482
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Deep philtrum, Iron deficie...	OMIM:300855
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due...	OMIM:259410
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Joint hypermobility, Carious teeth, O...	OMIM:619229
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Flexion contracture, Widely spaced prim...	ORPHA:90322
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Broad hallux, Intestinal malrotation, Carious teeth, ...	ORPHA:353281
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f...	OMIM:163200
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly...	OMIM:614099
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contracture, Coxa vara, Flatten...	OMIM:300232
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract...	OMIM:226600
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow...	OMIM:312870
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Wide anterior font...	OMIM:218040
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p...	ORPHA:2789
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth to...	OMIM:601559
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Lead Poisoning	Delayed eruption of teeth, Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin...	ORPHA:330015
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Palmoplantar keratoderma, Mitten defo...	ORPHA:79409
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Martin-Probst Syndrome	Pancytopenia, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar fla...	OMIM:300519
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Zygomycosis	Brain abscess, Sinusitis, Gastritis, Osteolysis, Enterocolitis, Colitis, Ileitis, Neutropenia, Co...	ORPHA:73263
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Arthrogryposis multiplex c...	OMIM:226730
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia	OMIM:138930
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Familial Dysautonomia	Osteolysis, Recurrent fractures	ORPHA:1764
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets, Fat malabsorption, Failure to thrive	OMIM:211600
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Malar ...	OMIM:600775
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Protruding tongue, Persistence ...	OMIM:610253
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Postaxial polydactyly, Splenomegaly, Esophageal varix, Retrognathia, Hip dysplasia,...	OMIM:614576
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
D-Bifunctional Protein Deficiency	Osteopenia, Failure to thrive, Micrognathia, Splenomegaly, Split hand, Large fontanelles, Hammert...	OMIM:261515
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa...	OMIM:224690
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Cl...	OMIM:617808
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel	ORPHA:95715
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Short metacarpal, Pes planus, Block vertebrae, Tarsal synostosis, Bowed humerus...	OMIM:272460
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Congenital hi...	ORPHA:96170
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short palm, Micrognathia, Hypoplastic ilia, Patellar ...	ORPHA:85201
Sotos Syndrome	Joint laxity, Mandibular prognathia, Pes planus, High, narrow palate, Long metacarpals, Narrow ja...	OMIM:117550
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Craniosynostosis, Hypoplasia o...	ORPHA:794
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Recurrent fractures, Micrognathia, Persistence of primary teeth,...	ORPHA:2785
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Meckel diverticulum, Carious teeth, Pyloric stenosis, Neutropenia, Ecla...	OMIM:616395
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Palmoplantar bl...	ORPHA:79410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ...	OMIM:271640
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Dent Disease	Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalac...	ORPHA:1652
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ...	OMIM:602557
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Long fingers, Abnormality of dental eruption, Hip dislocation,...	ORPHA:96092
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Clinodactyly of the 5th finger, Spina bif...	ORPHA:904
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Palmoplantar keratoderma, Hypodontia, Enamel hyp...	OMIM:616029
Loeys-Dietz Syndrome 3	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic inf...	OMIM:613795
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ...	OMIM:609029
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone m...	ORPHA:228123
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar h...	OMIM:257980
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353277
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Dental crowding, Micrognathia, Cleft palate, Sclerosis of skul...	OMIM:130720
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Rickets, Hip dislocatio...	OMIM:309000
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption	ORPHA:99811
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones	OMIM:309400
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Pes planus, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral r...	ORPHA:476126
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Colonic diverticula, Failure to thrive in infancy, Down-...	OMIM:194050
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Xerostomia, Widely spaced teeth...	OMIM:620193
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnormality of the anu...	OMIM:607872
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar keratoderma, Palmoplantar h...	ORPHA:2309
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr...	OMIM:612199
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Carious teeth, Osteoporosis, Oral ulcer, Gout, Increased suscept...	ORPHA:79259
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Elbow disloca...	ORPHA:2249
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Gastrointestinal stroma tumor, Osteoporosis, Osteolysis, Diaphyse...	ORPHA:97685
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Large for gestational age, Abnormality of the dentition, Tapered finger, Thick lower...	ORPHA:261652
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru...	OMIM:617865
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,...	OMIM:613990
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Micrognathia, Abnormal foot morphology, Short distal phala...	OMIM:180860
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ...	ORPHA:90321
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Esophageal ulceration, Anal fissure, ...	ORPHA:79408
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Elevated hemoglobin A1c, Micrognathia, Joint stiffness, Intra-oral hyperp...	OMIM:619127
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate, Small for gestational age	OMIM:262190
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Splenomegaly, Flexion contracture, Thic...	OMIM:309900
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Osteolysis	ORPHA:1546
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Unicoronal s...	OMIM:601707
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Micrognathia...	OMIM:601803
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Premature loss of primary teeth, Abnormality of th...	ORPHA:286
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Large for gestational age, Wide ant...	ORPHA:116
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu...	OMIM:616602
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Cleft lip, Large fontanelle...	ORPHA:2745
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Plantar...	ORPHA:77301
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:607765
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydactyly, Failure to thrive	ORPHA:17
Cystinosis	Failure to thrive, Rickets, Malabsorption	ORPHA:213
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Micrognathia, Splenomegaly, Osteolytic defects of the ...	ORPHA:280365
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:612843
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel	ORPHA:26791
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Micrognathia, Cleft palat...	OMIM:247200
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Carious teeth, Splenomeg...	ORPHA:191
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Joint stiffness, Carious teeth, Hypoplasia of th...	OMIM:253200
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Gingival fibromatosis, Osteolysis, Increased susceptibility to frac...	ORPHA:652
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Distal widening of metacarpals, Coxa var...	OMIM:602535
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Anteriorly placed anus, O...	ORPHA:2315
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Persistence of hemoglob...	OMIM:619769
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Downturned corners of...	OMIM:122470
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Trisomy 9P	Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly...	ORPHA:236
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Talipes equinovarus, Wormian bones, Delayed cranial su...	OMIM:616603
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets, Steatorrhea, Fat malabsorption, Failure to thrive	ORPHA:79303
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Hip dislocation, Talipes equ...	OMIM:219150
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t...	OMIM:149730
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Gingival overgrowth...	ORPHA:508542
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Failure to thrive, Rickets	ORPHA:2088
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Wide anterior fontanel, Pyloric stenosis, Hip dislocation, Joint subluxation, Small...	ORPHA:90349
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Clinodactyly, Thick vermilion border, Everted lower lip vermilion, Hig...	OMIM:615866
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Splenomegaly, Flexion contract...	OMIM:301072
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Ma...	ORPHA:565
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel	OMIM:231680
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bifid uvula	OMIM:615802
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Short ...	OMIM:135500
Restrictive Dermopathy	Osteopenia, Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Campto...	ORPHA:1662
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia	OMIM:616353
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Narrow palate, Ag...	OMIM:618644
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Intestinal malrotation, Ricket...	OMIM:613658
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Micrognathia, Obesity, Cleft palate, Hypoplastic cervical ve...	OMIM:616364
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Delayed cranial suture closure, Cra...	OMIM:620005
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Carious teeth, Thrombocytopenia, Esophageal stricture, Oste...	OMIM:305000
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hy...	OMIM:276820
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ...	OMIM:612651
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Joint stiffness, Abnormality of t...	ORPHA:93
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Esophagea...	ORPHA:79404
Silver-Russell Syndrome	Dental crowding, Failure to thrive in infancy, Cachexia, Micrognathia, Lower limb asymmetry, Sand...	ORPHA:813
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Obesity, Large hands, Clinodactyly of the 5th finger, Malar...	ORPHA:48652
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Failure to thrive, Duplication of thumb phalanx, Micrognathia, Joint sti...	ORPHA:2995
Tooth Agenesis, Selective, 4	Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr...	OMIM:150400
Hennekam-Beemer Syndrome	Camptodactyly of finger, Mastocytosis, Micrognathia, Lower limb asymmetry, Thick lower lip vermil...	ORPHA:2135
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clin...	OMIM:280000
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowding, Aplasia/Hy...	OMIM:219000
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Short-Rib Thoracic Dysplasia 12	Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Intestinal malrotation, Hamar...	OMIM:269860
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu...	OMIM:167210
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Duodenal ulc...	OMIM:619381
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thum...	OMIM:105650
Pitt-Hopkins Syndrome	Pes planus, Aganglionic megacolon, Tapered finger, Hiatus hernia, Broad fingertip, Short metatars...	ORPHA:2896
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Splenomegaly	ORPHA:2348
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:90674
Occipital Horn Syndrome	Joint laxity, Pes planus, Persistent open anterior fontanelle, Short humerus, Pelvic bone exostos...	OMIM:304150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Xfe Progeroid Syndrome	Cachexia, Premature loss of teeth, Failure to thrive, Pes cavus, Enamel hypoplasia	OMIM:610965
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth...	OMIM:619841
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Pes planus, Abnormal dental morphology, Micrognathia, High, narrow pal...	ORPHA:369950
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Abnormal toe morphology, Thick ...	ORPHA:404448
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Charge Syndrome	Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Abnormal ti...	ORPHA:138
Trisomy 10P	Thumb contracture, Wide cranial sutures, Small for gestational age, Micrognathia, Abnormal foot m...	ORPHA:171929
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Bowing of the long bones	ORPHA:199276
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Colitis, Steatorrhea	ORPHA:309031
Pallister-Hall Syndrome	Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Fanconi-Bickel Syndrome	Failure to thrive, Rickets, Osteomalacia, Malabsorption	OMIM:227810
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Aplastic anemia, Micrognathia, Carious teeth, ...	OMIM:223370
Fraser Syndrome	Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocc...	ORPHA:2052
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Splenomegaly, Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Yunis-Varon Syndrome	Congenital hip dislocation, Micrognathia, Short metatarsal, Palmoplantar hyperkeratosis, Short ph...	OMIM:216340
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight, Juvenile ...	OMIM:266270
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Agenesis of maxillary lateral inc...	OMIM:210900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia, Chondrocalcinosis	OMIM:600740
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo...	ORPHA:3353
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Delayed closure of the anterior fontan...	OMIM:127000
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Enamel hypoplasia, Malabsorption, Atrophic gastritis	OMIM:240300
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced...	ORPHA:199
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Short cla...	OMIM:617159
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Prominent fingertip...	OMIM:135900
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi...	ORPHA:818
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Brachydactyly, Delayed cranial ...	OMIM:601088
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Cubitus valgus, Metatarsus adductus, Premature os...	OMIM:611962
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Postaxia...	OMIM:249000
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Thrombocytopenia, Osteoarthritis, Splenomega...	OMIM:277900
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, High palate, Open mou...	ORPHA:1675
Coffin-Siris Syndrome	Joint laxity, Thin upper lip vermilion, Delayed eruption of teeth, Thick lower lip vermilion, Wid...	ORPHA:1465
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Pes cavus, Ora...	OMIM:148210
Junctional Epidermolysis Bullosa With Pyloric Atresia	Oral mucosal blisters, Congenital pyloric atresia, Pterygium, Enamel hypoplasia, Intestinal atresia	ORPHA:79403
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Widely spaced teet...	OMIM:617799
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Conical tooth, Leukocytosis, Oligodontia, Hypodontia	OMIM:308300
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short philtrum, ...	ORPHA:2044
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Abnormality of the dentition, Oral leukoplakia	OMIM:616553
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets	ORPHA:411629
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognath...	OMIM:606170
Denys-Drash Syndrome	Wide anterior fontanel	OMIM:194080
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Overweight, Delayed proximal femoral epiphyseal ossification, Macrogl...	ORPHA:226307
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane...	ORPHA:261537
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Thin upper lip vermilion, Joint dislocation, Arachnodactyly, Int...	OMIM:601776
Cockayne Syndrome Type 3	Carious teeth, Splenomegaly, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Cystinosis, Nephropathic	Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Weight loss, Genu valg...	OMIM:219800
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super...	OMIM:615948
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Failure to thrive, Oral leukoplakia, Thrombocytopenia	ORPHA:3322
Pallister-Hall Syndrome	Large for gestational age, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, ...	ORPHA:672
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Wormian bones, Micrognathia, Small hand, Obesity, Fibular hypoplasia, D...	ORPHA:444077
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Oral leukoplakia, Abnormally low T cell receptor excision circle level	OMIM:619767
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia, Chondrocalcinosis	ORPHA:405
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion...	ORPHA:1519
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Branchiooculofacial Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower l...	OMIM:113620
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Knobloch Syndrome 2	Pyloric stenosis, Enamel hypoplasia, Micrognathia	OMIM:618458
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane...	ORPHA:261552
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Palmoplantar hyperkeratosis, Perio...	OMIM:173650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Aplasia of the thymus, Micro...	OMIM:620186
Sotos Syndrome	Joint laxity, Hip contracture, Pes planus, Aganglionic megacolon, Ankle flexion contracture, Cran...	ORPHA:821
Dyskeratosis Congenita, Digenic	Failure to thrive, Oral leukoplakia, Anemia, Abnormality of the dentition	OMIM:620040
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Oral leukoplakia, Pure red cell aplasia	OMIM:618165
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Hip dislocation, Talipes calcaneovalgus, T...	ORPHA:90348
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane...	ORPHA:2152
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Oral leukoplakia, Squamous cell carcinoma of the tongue	OMIM:613988
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Aganglionic megacolon, Cleft upper lip, High...	OMIM:309800
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Oral leukoplakia	OMIM:148500
Dyskeratosis, Hereditary Benign Intraepithelial	Oral leukoplakia	OMIM:127600
Pachyonychia Congenita 1	Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:167200
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th...	ORPHA:51608
Familial Mediterranean Fever	Intestinal obstruction, Malabsorption, Splenomegaly, Osteoarthritis, Pedal edema, Arthritis, Oral...	ORPHA:342
White Sponge Nevus 1	Oral leukoplakia	OMIM:193900
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Cheilitis, Punctate palmoplantar hyperkeratosis, Angular cheilitis	OMIM:616295
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Revesz Syndrome	Aplastic anemia, Oral leukoplakia	OMIM:268130
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Oral ...	OMIM:615726

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ibsp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ibsp.

No publications found that use IMPC mice or data for Ibsp.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ibsp^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Ibsp^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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