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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ibsp mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth OMIM:190320
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Periapical bone loss, Mandibul... ORPHA:83451
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl... OMIM:615314
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared ... OMIM:269300
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... ORPHA:1515
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis ORPHA:2776
Ramon Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G... ORPHA:3019
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Micrognath... ORPHA:163649
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin bony cortex, Osteolysis, Prema... OMIM:174810
Hyaline Fibromatosis Syndrome
Osteopenia, Failure to thrive, Gingival overgrowth, Progressive flexion contractures, Osteoporosi... OMIM:228600
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort... ORPHA:73
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort... ORPHA:210110
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Frank-Ter Haar Syndrome
Genu recurvatum, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Wide mouth,... ORPHA:137834
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Bifid uvula, Joint contracture of the hand, Broad femoral neck, Dental malocclusion, ... OMIM:612350
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs ... OMIM:259420
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Joint stiffness, Gingival overgrowth, Progressive flexion contract... ORPHA:2028
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Hep... ORPHA:763
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ... ORPHA:2501
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Xanthoma Disseminatum
Osteolysis, Abnormal lip morphology ORPHA:158003
Peroxisome Biogenesis Disorder 7A (Zellweger)
Large posterior fontanelle, Long philtrum, Epiphyseal stippling, Talipes equinovarus, High palate... OMIM:614872
Osteogenesis Imperfecta, Type V
Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Anterior radial he... OMIM:610967
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b... ORPHA:61
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... OMIM:613849
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... ORPHA:3098
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:601390
Osteogenesis Imperfecta, Type Viii
Osteopenia, Dentinogenesis imperfecta, Slender long bone, Radial bowing, Femoral bowing, Recurren... OMIM:610915
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Wormian bones, Pseudoarth... OMIM:619795
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Failure to thrive, Tooth agenesis, Decreased skull ossification, ... ORPHA:2963
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... OMIM:618363
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Micrognathia, Decreased skull ossification, Smooth philtrum, Narrow greater sciatic... OMIM:263210
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate OMIM:600252
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P... OMIM:619135
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane... OMIM:614378
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... ORPHA:2563
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Radial deviation of the 4th finger, Malar flattening, Joi... OMIM:608545
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Coarse metaphyseal trabecularization, Joint dislocation, Osteomalac... ORPHA:93160
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Abnormal diaphysis morphology, Abnormal foot morphology, Abnormalit... ORPHA:1657
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Cleft palate, Osteolysis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long... OMIM:619489
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Micrognathia, Sh... OMIM:616897
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Dental crowding, Failure to thrive, Pathologic fracture, ... OMIM:614008
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteoporosis, Short ... ORPHA:71267
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:615546
Craniolenticulosutural Dysplasia
Osteopenia, Bifid uvula, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum... OMIM:607812
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Short toe, Recurrent mandibular subluxations, Micrognathia, Gingiv... OMIM:225410
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu... OMIM:190350
Hall-Riggs Syndrome
Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia,... OMIM:234250
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Thickened cortex of l... OMIM:253250
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Hypophosphatasia, Adult
Carious teeth, Rickets, Chondrocalcinosis, Osteomalacia, Abnormal foot morphology, Pathologic fra... OMIM:146300
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Palmoplantar kerato... ORPHA:659
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly, Joint hypermobility OMIM:619692
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific... OMIM:259440
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl... OMIM:619736
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Decreased body weight, Prominence of the premaxilla, Delayed c... OMIM:614886
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Clark-Baraitser syndrome
Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgu... OMIM:300602
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Abnormal epiphysis morphology, Craniofacial osteosclerosis, ... ORPHA:324964
Gomez-Lopez-Hernandez Syndrome
Malar flattening, Smooth philtrum, Wormian bones, Thin vermilion border, Craniosynostosis, High p... OMIM:601853
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Rhizomelic Syndrome
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Hip dislocation, Wide anterior fonta... OMIM:268250
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Bowing of the arm, Joint hypermobility, Multip... OMIM:301014
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Downtur... ORPHA:2409
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Retrognathia, Short middle phalanx of finger... OMIM:618853
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Obesity, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatar... OMIM:612463
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Long philtrum, Crumpled long bones... OMIM:610682
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equinovarus, Prom... OMIM:249420
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Micrognathia, Malar flattening, Osteolysis OMIM:176670
Intellectual Disability, Buenos-Aires Type
Abnormal pelvic girdle bone morphology, Mandibular prognathia, Dental malocclusion, Open bite, Ab... ORPHA:3079
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Weight loss, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Failure to thrive, Micrognathi... ORPHA:329178
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Xerostomia, Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Large posterior fontanelle, Delayed cranial suture c... ORPHA:85199
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Osteopenia, Hypoplasia of the maxilla, Narrow palate, Dental malocclusion, Joint... OMIM:182212
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel OMIM:614859
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Pycnodysostosis
Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Persistence... OMIM:265800
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Delayed eruption of ... ORPHA:289176
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Failure to thrive, Micrognathia, Wormian bones, Hip dysplasia, High palate, Small f... OMIM:614541
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio... OMIM:619719
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Pyloric stenosis, Micromelia, Genu valgum, Mic... OMIM:613848
Infantile Myofibromatosis
Chondrocalcinosis, Limitation of joint mobility, Bone cyst, Intestinal obstruction, Abnormal inte... ORPHA:2591
Osteoglosphonic Dysplasia
Rhizomelia, Tooth agenesis, Failure to thrive in infancy, Micrognathia, Multiple unerupted teeth,... ORPHA:2645
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Everted lower lip vermilion, High palate, Sy... OMIM:611174
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Dela... ORPHA:289157
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Femoral bowing, Wide pu... OMIM:614856
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Femoral... OMIM:207410
Seckel Syndrome 1
Ivory epiphyses, Pancytopenia, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial ... OMIM:210600
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo... ORPHA:249
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion... OMIM:616331
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Open... ORPHA:2097
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology ORPHA:1653
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Abnormality of the dentition, Limitation of joint mobility, Large... ORPHA:90153
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Long fingers, High palate, Mandibular prognathia, Tapered finger OMIM:618292
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Abnormality of the knee... ORPHA:251028
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg... OMIM:112240
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Abnormality of the dentition, Micr... ORPHA:90154
Atelosteogenesis Type I
Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micrognathia, Talip... ORPHA:1190
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Failure to thrive, Long philtrum, Narrow mouth, Malar ... OMIM:219200
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner... ORPHA:1327
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Large fontanelles, Dec... ORPHA:1452
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Felty Syndrome
Limitation of joint mobility, Abnormal joint morphology, Abnormal lymphocyte morphology, Splenome... ORPHA:47612
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Osteopenia, Bifid uvula, Dental malocclusion, Selective tooth age... ORPHA:2959
Dubowitz Syndrome
Small hand, Broad thumb, Toe syndactyly, Delayed cranial suture closure, Micrognathia, Aplasia/Hy... ORPHA:235
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Tooth malposition, De... ORPHA:2484
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Ollier Disease
Micromelia, Joint stiffness, Anemia, Abnormal metaphysis morphology, Osteolysis ORPHA:296
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu... OMIM:600002
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Dentinogene... OMIM:616294
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Microdont... OMIM:272440
Zellweger Syndrome
Failure to thrive, Micrognathia, Epiphyseal stippling, High palate, Wide anterior fontanel, Pylor... ORPHA:912
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Narrow ... OMIM:201170
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ... OMIM:619718
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat... OMIM:619339
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Small for gestational age, Dental malocclusion, Delayed eruption of te... OMIM:101800
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Tenosynovial Giant Cell Tumor
Abnormality of the ankle, Limitation of joint mobility, Chondrocalcinosis, Abnormal shoulder morp... ORPHA:66627
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Large posterior fontanelle, Preaxial polydactyly, Hamartoma ... OMIM:617925
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Enlargement of th... OMIM:600081
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Fibrochondrogenesis 1
Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Narrow mouth, ... OMIM:228520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Abscess, Splenomegaly, Join... OMIM:612852
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup... OMIM:112350
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion OMIM:155050
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Sclerosteosis 1
Tooth malposition, Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusi... OMIM:269500
Osteogenesis Imperfecta, Type Xi
Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility... OMIM:610968
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Hajdu-Cheney Syndrome
Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta... ORPHA:955
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Large fontanelles, Ara... OMIM:300373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Delayed cranial suture closure, Flexion contracture, Micrognathia, Narrow mouth,... OMIM:608612
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope... ORPHA:2909
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... OMIM:266920
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Deep longitudinal plantar crease, Carious teeth, Delayed eruption ... OMIM:214150
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
Wrinkly Skin Syndrome
Carious teeth, Delayed cranial suture closure, Talipes equinovarus, Pes planus, High palate, Oste... OMIM:278250
48,Xxxy Syndrome
Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, E... ORPHA:96263
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, A... ORPHA:100026
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Cachexia, Short philtru... ORPHA:2471
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... ORPHA:221016
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ... ORPHA:1988
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Pes cavus, Joint contracture of the 5th finger, Joint hypermob... OMIM:617258
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossification, Stenosis... ORPHA:93324
Hajdu-Cheney Syndrome
Genu valgum, Micrognathia, Fibular bowing, Narrow mouth, Absent frontal sinuses, Crowded carpal b... OMIM:102500
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Extramedull... OMIM:259710
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Hypophosphatasia, Childhood
Craniosynostosis, Carious teeth, Premature loss of primary teeth, Bowing of the legs OMIM:241510
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Localized Scleroderma
Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Sclerosis... ORPHA:90289
Papillon-Lefèvre Syndrome
Abnormality of the dentition, Periodontitis, Palmoplantar keratoderma, Atrophy of alveolar ridges... ORPHA:678
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Lissencephaly, X-Linked, 2
Long philtrum, Micrognathia, Thin upper lip vermilion, Long upper lip, High palate, Wide anterior... OMIM:300215
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal b... ORPHA:371428
Pseudohypoparathyroidism, Type Ia
Short toe, Delayed eruption of teeth, Short finger, Obesity, Subcutaneous ossification, Brachydac... OMIM:103580
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Failure to thrive, Ulnar deviation of the hand or of fingers of the hand, Mi... OMIM:214100
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir... OMIM:601957
Congenital Syphilis
Periostitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial... ORPHA:499009
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal... OMIM:614592
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-... OMIM:164200
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste... OMIM:259730
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Microg... OMIM:248700
Flynn-Aird Syndrome
Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas... OMIM:136300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Dental crowding, Delayed cranial suture closure, Flex... OMIM:248370
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Micrognathia, Wide anterior fontanel OMIM:618272
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Femoral bowing, Increased susceptibility to ... OMIM:166200
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Wormian bones, Brachydactyly, Osteoporosis ORPHA:2787
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Leukemia, Genu varum, Short metaca... ORPHA:221008
49,Xxxxy Syndrome
Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, E... ORPHA:96264
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Flexion cont... OMIM:203550
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, La... OMIM:612731
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Dental malocclusion OMIM:615541
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Failure to thrive in infancy, Tented upper lip vermilion, Polyda... ORPHA:313781
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Enlargement of th... OMIM:241530
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Abnormal foot morphology, Joint hypermobility, Taurodontia, Enamel hypoplasi... OMIM:618205
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Long philtrum, Large for gestat... OMIM:616638
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, High palate, S... OMIM:271665
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Natal tooth... OMIM:234100
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Dental malocclusion, Widely spaced teeth, Flexion contracture, Ex... OMIM:619293
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,... OMIM:619322
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Micrognathia, Smo... OMIM:610883
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Acrootoocular Syndrome
High, narrow palate, Small for gestational age, Dental malocclusion, Short toe, Sandal gap, Short... ORPHA:2980
Smith-Magenis Syndrome
Toe syndactyly, Cleft upper lip, Failure to thrive in infancy, Joint stiffness, Micrognathia, Ope... ORPHA:819
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Retrognathia, Joint dislocation, Osteomalacia, Abnormal joint morphology, Av... ORPHA:1901
3Mc Syndrome 1
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Caudal append... OMIM:257920
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Genu valgum, Na... ORPHA:800
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, L... ORPHA:198
Classic Hodgkin Lymphoma
Splenomegaly, Weight loss, Osteolysis ORPHA:391
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation OMIM:211900
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of the maxilla, Failure to thrive... OMIM:608154
Lessel-Kreienkamp Syndrome
Dental malocclusion, Open mouth, Thin upper lip vermilion, Wide cranial sutures, Clinodactyly of ... OMIM:619149
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Everted upper lip vermilion, Delayed eruption of tee... ORPHA:420561
Desmoid Tumor
Intestinal polyposis, Limitation of joint mobility, Osteolysis, Intestinal obstruction ORPHA:873
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Persistent open anterior fontanelle, Long philtrum, Delayed cranial s... ORPHA:357058
Odontochondrodysplasia
Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Delayed eruptio... ORPHA:166272
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, Wormian bones, ... ORPHA:2863
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Zimmermann-Laband Syndrome
Bifid uvula, Deep plantar creases, Overtubulated long bones, Micrognathia, Pes cavus, Wide mouth,... ORPHA:3473
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Abnor... ORPHA:464
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... ORPHA:50814
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia, Pla... OMIM:226650
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Dentinogenesis imperfecta, Periodontitis, Short toe, Retrognathia, Delayed eruption o... OMIM:619269
Taurodontism
Taurodontia OMIM:272700
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Patchy sclerosis of finger phalanx... OMIM:218400
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Obesity, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatar... OMIM:612462
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Gaucher Disease Type 1
Gingival bleeding, Osteopenia, Splenic infarction, Erlenmeyer flask deformity of the femurs, Path... ORPHA:77259
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormality of the dentition, Carious teeth, Abnormal epiphysis m... ORPHA:53
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnormal shoulder... ORPHA:2115
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopen... ORPHA:1830
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Alpha-Mannosidosis, Infantile Form
Osteopenia, Macroglossia, Cranial hyperostosis, Talipes valgus, Widely spaced teeth, Abnormality ... ORPHA:309282
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma,... ORPHA:1775
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Calvar... ORPHA:52430
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Gingival overgrowth, Generalized osteoporosis, Flexion contracture, Osteolysis ORPHA:423461
Hypophosphatemic Rickets, Autosomal Dominant
Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the... OMIM:193100
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... ORPHA:949
Meier-Gorlin Syndrome 7
Wide anterior fontanel, Anal stenosis, Anteriorly placed anus, Preaxial hand polydactyly, Duodena... OMIM:617063
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Long philtrum, Failure to thri... OMIM:620494
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Hypochondroplasia
Flared metaphysis, Trident hand, Malar flattening, Aplasia/hypoplasia of the extremities, Limited... OMIM:146000
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim... ORPHA:88630
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Joint stiffnes... OMIM:619184
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Arachnodactyly, Slender toe, High palate, Flexion contracture, Pyloric stenosis OMIM:310400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Failure to thrive, Persistent open anterior fontanelle, Hepatosplenome... OMIM:614866
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Downturned corners of mouth, Tracheomalacia, Anteriorly placed anus, Micrognathia, ... OMIM:217980
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Failure to thrive, Thick upper lip vermilion, Macrodontia, Ane... OMIM:617883
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Deep plantar creases, Downturned corners of mouth, Retrognathia... OMIM:616580
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Alg9-Cdg
Bifid uvula, Rhizomelia, Microretrognathia, Flared metaphysis, Long philtrum, Delayed cranial sut... ORPHA:79328
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Erythrodontia, Pathologic fracture, Splenomegaly, Thro... OMIM:263700
48,Xyyy Syndrome
Long philtrum, Abnormal foot morphology, Thick lower lip vermilion, Radioulnar synostosis, Pes pl... ORPHA:99329
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Anal atresia, Syndactyly,... OMIM:305450
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ... ORPHA:93346
Achondroplasia
Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint h... ORPHA:15
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Increased body weight, Wormian bones, Incr... OMIM:614450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... OMIM:154780
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build... ORPHA:364028
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Chromomycosis
Abnormal foot morphology, Abnormality of the lower limb, Abnormal oral cavity morphology, Ankylos... ORPHA:182
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t... OMIM:619797
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... OMIM:618761
Sweeney-Cox Syndrome
Short distal phalanx of finger, Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Median ... OMIM:617746
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Clinodactyly, Failure to thrive, Clinodactyly of the 5th finger, Micro... ORPHA:73272
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil... ORPHA:1193
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol... ORPHA:1133
Mccune-Albright Syndrome
Abnormal facial skeleton morphology, Aneurysmal bone cyst, Dental malocclusion, Osteomalacia, Mon... ORPHA:562
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, High pala... OMIM:166250
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, High palate, Down... OMIM:618371
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractu... ORPHA:793
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Tooth agenesis, Decreased c... OMIM:616229
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... OMIM:157980
Tetrasomy 5P
Failure to thrive, Long philtrum, Overlapping toe, Micrognathia, Talipes equinovarus, Short hallu... ORPHA:3309
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Large fontanelles, Intestina... ORPHA:666
Heart And Brain Malformation Syndrome
High, narrow palate, Hand clenching, Cleft lip, Camptodactyly of finger, Thick lower lip vermilio... OMIM:616920
Three M Syndrome 2
Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth... OMIM:612921
Kenny-Caffey Syndrome, Type 1
Small hand, Carious teeth, Slender long bone, Decreased skull ossification, Delayed closure of th... OMIM:244460
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Abnormality of the dentition, Delayed eruption of teeth, Osteomyelitis, Joint hypermo... ORPHA:2314
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Lar... OMIM:218600
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Diastema, Micrognathia, Malar flattening, Brachydactyly ORPHA:436245
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... ORPHA:2741
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap... OMIM:108720
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo... OMIM:616507
Schinzel-Giedion Syndrome
Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, High palate, Short 1st... ORPHA:798
Craniosynostosis 2
Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Wormian bones, Triphalangeal thum... OMIM:604757
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Kabuki Syndrome 2
Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Micrognathia, Lower... OMIM:300867
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Narrow palate, ... OMIM:614188
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Restrictive Dermopathy 1
Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Mic... OMIM:275210
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the lo... OMIM:617952
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe... OMIM:251450
Cardiofaciocutaneous Syndrome 1
Osteopenia, Abnormality of the dentition, Dental malocclusion, Failure to thrive, Open bite, Micr... OMIM:115150
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Palmoplantar keratoderma, Limitation... ORPHA:2796
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Delayed cranial ... OMIM:230740
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Small for gestational age, Small anterior fontanelle, Sagittal crani... OMIM:314320
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Broad secondary alveo... ORPHA:3369
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Micrognathia, Abnormal me... ORPHA:93267
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Abnormal dental... ORPHA:2176
Maternal Uniparental Disomy Of Chromosome 1
Downturned corners of mouth, Failure to thrive, Pancytopenia, Epiphyseal stippling, Talipes, Smoo... ORPHA:251009
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Nail-Patella Syndrome
Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Contracture of the dist... ORPHA:2614
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Long philtrum, Splenic cyst, Splenomegaly, Thin upper lip vermilion, Hiatus hernia, S... OMIM:610199
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone density with cystic changes, Enamel hypoplasia, Cortica... ORPHA:94089
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel OMIM:275100
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Malar flattening, Uln... OMIM:100800
Laron Syndrome
Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Brachydactyly, O... ORPHA:633
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Flexion contracture, Failure to thrive, Wide anterior fontanel OMIM:609180
Oliver Syndrome
Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fingertip pads, Camptodacty... ORPHA:2920
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foot, Hypoplas... OMIM:601812
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Dumb... OMIM:211350
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia, Pes planus, Sagittal craniosynostosis OMIM:616901
Short Syndrome
Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Downturned corn... OMIM:269880
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Joint stif... OMIM:608940
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen... ORPHA:2769
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Finger synd... ORPHA:915
Raine Syndrome
Mandibular prognathia, Natal tooth, Micromelia, Arthrogryposis multiplex congenita, Long hallux, ... OMIM:259775
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Failure to thrive in infancy, O... OMIM:618975
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytop... OMIM:259700
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ... OMIM:180849
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Narrow mouth, Humeroradial syno... ORPHA:95699
Transaldolase Deficiency
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Anemia, Deep philtrum, Thrombo... OMIM:606003
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Wide cran... OMIM:618188
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Hand polydactyly, High palate, Wide anterior fontanel, Syndactyly OMIM:239710
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Adducted thumb, Brachydactyly OMIM:620062
Spondyloenchondrodysplasia
Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eruption of teeth,... ORPHA:1855
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Neonatal Adrenoleukodystrophy
Wide anterior fontanel, Abnormal palate morphology ORPHA:44
H Syndrome
Cleft upper lip, Microcytic anemia, Hepatosplenomegaly, Gingival overgrowth, Recurrent fractures,... ORPHA:168569
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Distal Deletion 12Q
Overlapping toe, Micrognathia, Large hands, Duodenal atresia, High, narrow palate, Failure to thr... ORPHA:96149
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Micrognathia, Cli... ORPHA:73223
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Downturned corners of mouth, Increased mean corpuscu... OMIM:617052
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow ... ORPHA:2021
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Carious teeth, Failure to thrive, Splenomegaly, Anemia of inadequate production, Calv... OMIM:612714
Hypophosphatasia
Abnormality of the dentition, Failure to thrive in infancy, Large fontanelles, Bowing of the long... ORPHA:436
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Short lingual frenulum, Broad foot, Limited elbow movement, Dec... OMIM:261540
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu... ORPHA:1328
Hepatoerythropoietic Porphyria
Osteopenia, Erythrodontia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, O... ORPHA:95159
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Open mouth, Eve... ORPHA:534
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Recurrent fractures OMIM:126550
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... OMIM:616202
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Large fontanelles, Hum... OMIM:151050
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s... OMIM:302350
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt... ORPHA:2325
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P... OMIM:618727
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Pro... ORPHA:363611
Cri-Du-Chat Syndrome
Bifid uvula, Microretrognathia, Small for gestational age, Downturned corners of mouth, Thick low... OMIM:123450
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp... ORPHA:289
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Prominent palatine ridges, Premature posterior fontanelle c... ORPHA:488437
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna... OMIM:300990
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly OMIM:608257
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philtrum, Micrognathia, ... OMIM:145420
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea... OMIM:620663
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Neu... ORPHA:2643
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Taurodo... ORPHA:3220
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Palmoplantar... OMIM:129400
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca... OMIM:601356
Mixed Connective Tissue Disease
Xerostomia, Leukopenia, Joint stiffness, Splenomegaly, Joint swelling, Gastritis, Arthritis, Hemo... ORPHA:809
ERI1-related disease
Velopharyngeal insufficiency, Micrognathia, Decreased body weight, Pes planus, Patellar dislocati... OMIM:608739
Takenouchi-Kosaki Syndrome
Dental malocclusion, Clinodactyly, Downturned corners of mouth, Long philtrum, Widely spaced teet... OMIM:616737
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calci... OMIM:222765
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Micrognathia, Median cleft palate, Gingival overgro... ORPHA:1832
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia OMIM:601345
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
7Q11.23 Microduplication Syndrome
Dental malocclusion, Retrognathia, Diastema, Tracheomalacia, Obesity, Micrognathia, Short lingual... ORPHA:96121
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... OMIM:212780
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Foot joint contracture, Slender long bone, De... ORPHA:444072
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortening, Shor... ORPHA:2347
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Pancytopenia, Micro... ORPHA:85321
Scarf Syndrome
Long philtrum, Joint hypermobility, Short sternum, Enamel hypoplasia, Hypocalcification of dental... ORPHA:3134
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm... OMIM:613982
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi... OMIM:309350
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delayed cranial suture ... ORPHA:83
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes equinovarus, ... ORPHA:536467
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Geroderma Osteodysplasticum
Osteopenia, Hypoplasia of the maxilla, Abnormality of the dentition, Periodontitis, Femoral bowin... OMIM:231070
Congenital Erythropoietic Porphyria
Osteopenia, Erythrodontia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anis... ORPHA:79277
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Celiac disease, Recurrent aphthous stomatitis, Macrocytic anemia, Iro... OMIM:212750
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Dental malocclusion, Limitation of joint mobility, Small for g... OMIM:133540
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Splenomegaly, Talipes eq... OMIM:616354
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Osteopenia, Failure to thrive, Long philtrum, Large fontanelles, Mala... OMIM:612940
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypophosphatemic rickets, Genu valgum, Hypoplasia of teeth, Genu varum, Coxa valga OMIM:613312
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ... ORPHA:2050
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Pes planus, Everted lower lip vermilion, Large hands, High... ORPHA:192
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Anteriorly placed anus, Talipes equinovarus, Enamel hypoplasia, Everted... OMIM:619980
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra... OMIM:210710
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture of the proxim... ORPHA:457279
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Ivic Syndrome
Carpal synostosis, Limited elbow movement, Carpal bone hypoplasia, Radioulnar synostosis, Limited... OMIM:147750
Hall-Riggs Syndrome
Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of teeth, Failure to... ORPHA:2107
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Joint dislocation, Ab... ORPHA:582
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Everted lower lip vermilion, Syndactyly, High, nar... OMIM:612289
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Short thumb, Delayed eruption of teeth, Long phi... ORPHA:2712
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Osteochondrosis, Bone cyst, Osteolysis ORPHA:2396
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Down-sloping shoulders, Deep philtrum, Hyperextensible hand j... OMIM:227330
Chst3-Related Skeletal Dysplasia
Rhizomelia, Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu ... ORPHA:263463
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Hy... OMIM:612447
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Micrognathia, Dental malocclusion, Velopharyngeal insufficiency OMIM:613680
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys... OMIM:210720
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Aplastic anemia, Oral leukoplakia, Pterygium, Pancytopenia, Microdontia, Palmoplan... OMIM:224230
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Wormian bone... OMIM:619638
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Failure to thrive, Enamel hypoplasia, Syndactyly, Pyloric stenosis OMIM:226700
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Palmoplantar keratoderma, Oral mucosal blisters ORPHA:79402
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Micrognathia, Stomach cancer, Intestinal polyposis, Clinodactyly of the 5th fin... ORPHA:1052
De Barsy Syndrome
Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Failure to thrive, Talipes cal... ORPHA:2962
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large fontanelles, Failure to thrive, Wide anterior fontanel OMIM:614883
Acrocallosal Syndrome
Triphalangeal thumb, Wide anterior fontanel, Postaxial hand polydactyly ORPHA:36
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure, Persistence of primary teeth, Decreased skull ossi... ORPHA:93325
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Abnormal femur morphology, Splenomeg... ORPHA:464329
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Large posterior fontanelle, Delayed cranial suture closure, Delaye... ORPHA:95717
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Camptodactyly of finger, Osteochondritis dissecan... ORPHA:284984
Carpenter Syndrome 2
Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ... OMIM:614976
Robinow Syndrome
Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Meso... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil... OMIM:616894
Neu-Laxova Syndrome
Osteopenia, Bifid uvula, Rickets, Micromelia, Retrognathia, Osteomalacia, Pterygium, Micrognathia... ORPHA:2671
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Abnormal joint morphology, Pancytopenia, Oral ulcer, Impaired neu... ORPHA:811
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Sponastrime Dysplasia