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Gene: Ibsp MGI:96389

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ibsp mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Dolichocephaly, Increased bone mineral density, Microdontia, Widely... OMIM:190320
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Cleft palate, Short long bone, Flared metaphysis, Delay... OMIM:601561
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Wormian bones, Cubitus valgus, Wide anterior fontanel, Dental crowdin... OMIM:269300
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Midface retrusion, Abnormality of the dentition, Short distal phalanx of finger, Hypo... ORPHA:2776
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Finger clinodactyly, Front... ORPHA:3352
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Osteopenia, Increased bone mineral density... ORPHA:85184
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Delayed eruption of primar... OMIM:265800
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Pyle Disease
Delayed eruption of teeth, Carious teeth, Limited elbow extension, Genu valgum, Mandibular progna... OMIM:265900
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Joint laxity, Wide anterior fontan... OMIM:225410
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Anterior plagiocephaly, Abnor... ORPHA:163649
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Gorham-Stout Disease
Mandibular pain, Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density... ORPHA:73
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the ante... OMIM:614008
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease... OMIM:259420
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Flattened epiphysis, Clef... ORPHA:166016
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin bony cortex, Prema... OMIM:174810
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Dislocated radial head, Joint laxity, Short p... OMIM:612350
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Gingival fibromatosis, Gingival overg... OMIM:228600
Dermatoosteolysis, Kirghizian Type
Oligodontia, Osteolysis, Split hand, Flexion contracture, Ankle swelling, Joint contracture of th... OMIM:221810
Pycnodysostosis
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Short distal phalanx of finger... ORPHA:763
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Xanthoma Disseminatum
Abnormal lip morphology, Osteolysis ORPHA:158003
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Osteolysis, Camptodactyly of finger, Genu recurvatum, ... ORPHA:137834
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Generali... OMIM:613849
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Cone-shaped epiphyses of the phalanges of the hand, Mid... OMIM:602849
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Gingival fibromatosis, Joint stiffness, Abnormal di... ORPHA:2028
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Down-sloping shoulders, Recurrent fractures, Brachycephaly, Osteopenia ORPHA:91133
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Pes planus, Recurrent fractures, Abnormality of the dentition... OMIM:610967
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Downturned corners of mouth, Abnormality of epiphysis morpho... ORPHA:2774
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Delayed closure of the anterior fontanelle, Wormian bones... OMIM:604922
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodontia, Frontal bossin... ORPHA:2563
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, J... ORPHA:2097
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Wormian bones, Osteolysis, Abnormality of epiphysis... ORPHA:970
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow i... OMIM:601668
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bowing of the legs... OMIM:277440
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Frontal bossing, Bone cyst, Recurrent fractures, Abnormality of the dent... ORPHA:93160
Alpha-Mannosidosis
Open bite, Hip dysplasia, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperos... ORPHA:61
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Progeroid Syndrome, Petty Type
Wide anterior fontanel, Mandibular prognathia, Everted lower lip vermilion, Tooth agenesis, Short... ORPHA:2963
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Bulging epiphyses, Fibular bowing, Subperiosteal bo... OMIM:264700
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia OMIM:166750
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Mulibrey Nanism
Enamel hypoplasia, Frontal bossing, Dental crowding, Hypoplastic frontal sinuses, Dolichocephaly,... OMIM:253250
Larsen-Like Syndrome
Wide anterior fontanel, Joint laxity, Frontal bossing, Radial deviation of the 4th finger, Joint ... OMIM:608545
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Van Maldergem Syndrome 1
Joint laxity, Downturned corners of mouth, Short clavicles, High palate, Micrognathia, Hypoplasia... OMIM:601390
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Flexion contracture, Smooth philtrum, Short long bone, Brachycephaly, Dec... OMIM:263210
Van Maldergem Syndrome 2
Short 4th metacarpal, Talipes equinovarus, Joint laxity, Downturned corners of mouth, Wide anteri... OMIM:615546
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Cortical irregularity... OMIM:249420
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyl... ORPHA:3098
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Narrow palate, Short metatarsal, Pes planus, Ivory epiphyses of the distal phalang... OMIM:190350
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... OMIM:614669
Dermatoosteolysis, Kirghizian Type
Oligodontia, Osteolysis, Tarsal synostosis, Abnormality of the dentition, Abnormal diaphysis morp... ORPHA:1657
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Mandibular prognathia, Abnorma... ORPHA:3079
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Osteolysis, Palmoplantar hyperhidrosis, Ankylosis, Palm... ORPHA:659
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Neutropenia, Increas... OMIM:246550
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... ORPHA:71267
Multiple Osteochondromas
Radial bowing, Genu valgum, Osteolysis, Abnormality of tibia morphology, Synostosis of joints, El... ORPHA:321
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecul... ORPHA:79106
Hypophosphatasia, Adult
Carious teeth, Arthropathy, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurr... OMIM:146300
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Abnormality of dent... ORPHA:85199
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Meta... OMIM:234250
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Wide anterior fontanel, Midface retrusion... OMIM:601853
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Deep philtrum, Contractures of the large joints, Osteopenia, Thin upper lip vermilion, Trigonocep... ORPHA:329178
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Osteolysis, Cleft palate ORPHA:494
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Maxillary lateral inciso... OMIM:300602
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Un... OMIM:616897
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures... OMIM:259440
Ck Syndrome
Slender build, Joint hypermobility, Dental crowding, Abnormal cortical bone morphology, Abnormal ... OMIM:300831
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Atkin-Flaitz Syndrome
Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Maxillary lateral inciso... OMIM:300431
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Subperiosteal bone resor... ORPHA:289157
Hamamy Syndrome
Hip dysplasia, Long philtrum, Hypochromic anemia, Craniosynostosis, Microcytic anemia, Down-slopi... OMIM:611174
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Delayed closure of the anterior fontanel... OMIM:607812
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... OMIM:612463
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Intestinal malrotation, Broad hallux, Syndactyly, Retr... OMIM:613684
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Downturned corners... ORPHA:2409
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Abnormality of facial skeleton, Pathologic fracture, Abnormal pa... ORPHA:249
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide ant... OMIM:114290
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High palate, Broad ... OMIM:305620
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Pes planus, Camptodactyly, Me... OMIM:182212
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Midface retrusio... OMIM:601812
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Genu valgum, Wide anterior fontanel, Squared i... OMIM:618853
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Midface retrusion, Generalized osteoporosis, Micrognathia, Malar flattening OMIM:176670
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... OMIM:614188
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Sclerosteosis 1
2-3 finger syndactyly, Frontal bossing, Midface retrusion, Mandibular prognathia, Cortically dens... OMIM:269500
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morph... ORPHA:289176
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... ORPHA:2645
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Frontal bossing, Dental crowding, Midface retrusion, Thickened calvar... OMIM:616331
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hip dyspl... ORPHA:10
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Humeroradial synostosis, Femoral bowing, Rocker bottom foot, Lambdoidal craniosyno... OMIM:207410
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Frontal bossing, Craniofacial hyperostosis, Joint h... ORPHA:2484
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Joint hypermobility, Narrow mouth, Wide anterior fontanel, Congenit... OMIM:219200
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epip... OMIM:184260
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Frontal bossing, Recurrent fractures, Persistence of prima... OMIM:147060
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Rhizomelic Syndrome
Wide anterior fontanel, Rhizomelia, Hip dislocation, Bifid distal phalanx of the thumb, Complete ... OMIM:268250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Genu valgum, Microretrognathia, Pierre-Robin sequence, Pe... OMIM:618363
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Increased susceptibility to fractures, High palate, M... ORPHA:251028
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Abnormal sacroiliac joint morphology, Osteolysis, Abnormalit... ORPHA:324964
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Platybasia, Abnormality of the dentition, Abnormal joint morphology, Moderate gene... OMIM:166230
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Wide anterior fontanel, Frontal bossing, Broad hallux, Small for ge... OMIM:614541
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Delayed tarsal ossification, Flat acetabular roof, Long thumb, Dela... OMIM:600002
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Cubitus valgus, Toe syndactyly, Narrow mouth, Downturned corn... ORPHA:1327
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Neutropenia, Short distal phalanx ... OMIM:618150
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Osteolysis, Flexion contracture, Xerostomia, Narrow foramen obturatorium, Malabsor... ORPHA:220393
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Zellweger Syndrome
Abnormality of the tongue, Epiphyseal stippling, Wide anterior fontanel, Pyloric stenosis, Flat o... ORPHA:912
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Abnormality of the lo... ORPHA:313855
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Frontal bossing, Flattening of the talar dome, Hypophos... OMIM:307800
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Midface retrusion, Rhizom... ORPHA:1190
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Infantile Myofibromatosis
Osteolysis, Gingival fibromatosis, Chondrocalcinosis, Bone cyst, Abnormality of the metaphysis, A... ORPHA:2591
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Neonat... OMIM:101800
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Radioulnar synostosis, Short metatarsal, Hitchhiker thumb, Deep ph... OMIM:605282
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Osteolysis, Joint... ORPHA:66627
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, High, narrow ... ORPHA:166108
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Decreased calvarial ossifica... OMIM:617925
Hallermann-Streiff Syndrome
Joint hypermobility, Thin vermilion border, Wormian bones, Narrow palate, Narrow mouth, Natal too... OMIM:234100
Auriculocondylar Syndrome 1
Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open... OMIM:602483
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Frontal bossing, Premature loss of primary teeth, Bowing of the ... OMIM:241510
Wrinkly Skin Syndrome
Long philtrum, Carious teeth, Delayed eruption of teeth, Joint hypermobility, Wide anterior fonta... OMIM:278250
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Increased bone mineral density, Broad jaw, Brachycephaly ORPHA:178377
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Large fontanelles, Increased bone mineral density, Spina bifida occulta, Abnorm... ORPHA:2780
Cole-Carpenter Syndrome 2
Wormian bones, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Midface retrusion... OMIM:616294
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Large fontanelles, Ma... ORPHA:1452
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Pes planus, Small anterior fontanelle, Sandal gap, Pancytopen... OMIM:210600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Pes planus, Interp... OMIM:259600
Cohen Syndrome
Joint hypermobility, Short philtrum, Genu valgum, Short metatarsal, Cubitus valgus, Open mouth, P... OMIM:216550
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Abnormality of the dentition OMIM:615269
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Short philtrum, Talipes equinovarus, Narrow mouth, Wide anteri... OMIM:201170
Osteosarcoma
Osteolysis, Joint swelling, Weight loss, Abnormality of the femoral metaphysis, Abnormality of th... ORPHA:668
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to... OMIM:224300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Frontal b... OMIM:600081
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Dolichocephaly, Cuta... OMIM:203550
Bartsocas-Papas Syndrome 2
Axillary pterygium, Wide anterior fontanel, Bilateral cleft lip and palate, Small hand, Cutaneous... OMIM:619339
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short distal phalanx of finger OMIM:155050
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Midface retrusion, Thrombocytopenia, Metaphy... OMIM:614727
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Joint laxity, Abnormality of the dentition, Coxa vara, Increased susceptibil... OMIM:610968
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of the dentition, Short... ORPHA:1858
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Cachexia, Dental ma... ORPHA:2471
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperostosis OMIM:211900
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Long philtrum, Pos... OMIM:228520
Dubowitz Syndrome
Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus, Anemia, Spina bifida occulta, Hig... ORPHA:235
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Thick... OMIM:103580
Hajdu-Cheney Syndrome
Foot acroosteolysis, Long philtrum, Osteoporosis, Genu valgum, Dislocated radial head, Absent fro... OMIM:102500
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Chime Syndrome
Short philtrum, Osteolysis, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:3474
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Bowing of the long bones, Increased susceptibility to fractures, Fractures of the lon... OMIM:602080
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Camptodactyly, Na... OMIM:300373
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Smith-Kingsmore Syndrome
Long philtrum, Short proximal phalanx of finger, Wide anterior fontanel, Open mouth, Frontal boss... OMIM:616638
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Fragile teeth, Hypodontia, Short distal phalanx of finger, ... ORPHA:2959
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Neutropenia, Increased sus... ORPHA:2909
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Recurrent fractu... OMIM:259710
Meier-Gorlin Syndrome 7
Craniosynostosis, Joint laxity, Narrow mouth, Wide anterior fontanel, Anal stenosis, Sagittal cra... OMIM:617063
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Osteopetrosis, Generalized osteosclerosis, Thickened calvaria, ... OMIM:607634
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Dental malocclusion, H... OMIM:259730
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Decreased body weight, Abnorm... OMIM:614886
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Club-shaped distal femur, Patchy sclerosis of finger phalanx, Metaphyseal ... OMIM:218400
Felty Syndrome
Osteolysis, Abnormal lymphocyte morphology, Synovitis, Weight loss, Neutropenia, Thrombocytopenia... ORPHA:47612
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Papillon-Lefèvre Syndrome
Severe periodontitis, Osteolysis, Palmoplantar keratoderma, Periodontitis, Atrophy of alveolar ri... ORPHA:678
Osteogenesis Imperfecta, Type Vii
Long philtrum, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Externally rotated/abd... OMIM:610682
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Recurrent fractures, Reduced bone mineral density, Increased suscept... OMIM:166220
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, ... OMIM:268310
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Narrow palate, Hypoplastic frontal sinuses, Persistent open ant... OMIM:119600
Hajdu-Cheney Syndrome
Open bite, Hypoplastic 5th lumbar vertebrae, Thin vermilion border, Wormian bones, Narrow mouth, ... ORPHA:955
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Hyperostosis, Abnormalit... ORPHA:2710
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Oral... ORPHA:1988
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Hip dysplasia, Short philtrum, Talipes equinovarus, Drooling, Joint laxity, Fr... OMIM:619293
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Large for gestational... OMIM:612731
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96263
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Osteolysis, Periostitis, Joint swelling, Stomatitis, Failure to thrive in infancy, Splen... OMIM:612852
Monosomy 5P
Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Small hand, Ab... ORPHA:281
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, 4-5 finger syndactyly, Cubitus valgus, Taur... OMIM:164200
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Short foot, Stenosis of the medullary ... ORPHA:93324
Rothmund-Thomson Syndrome Type 2
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synostosis involving b... ORPHA:221016
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Lissencephaly, X-Linked, 2
Long philtrum, Wide anterior fontanel, Long upper lip, Thin upper lip vermilion, High palate, Mic... OMIM:300215
Apert Syndrome
Narrow palate, Large fontanelles, Mandibular prognathia, Postaxial hand polydactyly, Preaxial han... OMIM:101200
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Frontal bossing, Abnormality of epiphysis morphology, Mandibular oste... ORPHA:53
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... OMIM:263540
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... OMIM:601957
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Enlarged epiphyses, Midface... OMIM:269880
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Mental Retardation, Buenos Aires Type
Carious teeth, Pes planus, Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Failure t... OMIM:249630
Odontochondrodysplasia
Delayed eruption of teeth, Frontal bossing, Square pelvis bone, Joint hyperflexibility, Bowing of... ORPHA:166272
Dysostosis, Stanescu Type
Wormian bones, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Massively thickene... ORPHA:1798
3Mc Syndrome 1
Short 5th finger, Radioulnar synostosis, Lambdoidal craniosynostosis, Dental crowding, Wide anter... OMIM:257920
Localized Scleroderma
Esophagitis, Sclerosis of finger phalanx, Abnormality of facial skeleton, Flexion contracture, Ab... ORPHA:90289
Rhizomelic Chondrodysplasia Punctata, Type 2
Large fontanelles, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexion contrac... OMIM:222765
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Rothmund-Thomson Syndrome Type 1
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutropenia, Small for... ORPHA:221008
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Proteus Syndrome
Open mouth, Dolichocephaly, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyper... OMIM:176920
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnor... ORPHA:100026
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, Dumbbell-shape... ORPHA:440354
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Marden-Walker Syndrome
Long philtrum, Talipes equinovarus, Narrow mouth, Radioulnar synostosis, Wide anterior fontanel, ... OMIM:248700
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Myopathy, Myofibrillar, 8
Distal joint laxity, Joint hypermobility, Pes planus, Joint contracture of the 5th finger, Achill... OMIM:617258
20P13 Microdeletion Syndrome
Wide anterior fontanel, Finger syndactyly, Polydactyly, Smooth philtrum, Decreased body weight, T... ORPHA:313781
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Frontal b... OMIM:241530
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... OMIM:264475
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Abnormal cortical bone morphology, Slender long bo... ORPHA:1486
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... ORPHA:2787
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96264
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Joint laxity, Wide anterior fontanel, Externally rotated/abducted l... OMIM:610915
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... OMIM:612462
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Spina bifida occulta, Rectal prolapse, C... OMIM:235510
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Hand polydactyly, Toe syndactyly, Open mouth, ... ORPHA:819
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Osteolysis, Hemolytic anemia, Thrombocytopenia, Pathologic fracture, Jo... OMIM:263700
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Oxycephaly, Natal tooth, Short 1st metacarpal, Metatarsus adduc... OMIM:201050
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... ORPHA:90650
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Frontal bossing, Long foot, Short sternum,... OMIM:157980
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, Dental malocc... OMIM:616202
Ollier Disease
Osteolysis, Joint stiffness, Anemia, Abnormality of the metaphysis, Micromelia ORPHA:296
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Midface retrusion... OMIM:619322
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Wide anterior fontanel, Midface retrusion, Asplenia, Anal atresia, ... OMIM:617746
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Temporomandibular joint ankylosis, Synostosis of ... ORPHA:2741
Three M Syndrome 2
Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Short 5th finger, Frontal bossing,... OMIM:612921
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Bowing of the long bones, Recurrent fractures, ... OMIM:617952
Taurodontism
Taurodontia OMIM:272700
Gapo Syndrome
Joint hypermobility, Wide anterior fontanel, Thick lower lip vermilion, Frontal bossing, Abnormal... OMIM:230740
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Small for gestational age, T... OMIM:610883
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Osteomalacia, Abnormality of the... OMIM:193100
Teebi Hypertelorism Syndrome
Long philtrum, Craniosynostosis, Frontal bossing, Dental crowding, Natal tooth, Small hand OMIM:145420
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Wormian bones, Recurrent fractures, Increased susceptibility t... OMIM:166200
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Elbow dislocation, Mand... ORPHA:2769
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Abnormality of epiphysis morphology, Large fontanell... ORPHA:93267
Lessel-Kreienkamp Syndrome
Open mouth, Frontal bossing, Plagiocephaly, Thin upper lip vermilion, Wide cranial sutures, Denta... OMIM:619149
Gaucher Disease Type 1
Osteolysis, Pedal edema, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Patholog... ORPHA:77259
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Periodontitis, Delay... OMIM:619269
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Multinucleated giant chondrocytes in epiphyseal cartilage, M... OMIM:108720
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Wormian bones, Abnormality of the philtrum, T... ORPHA:2863
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Short finger, Dental malocclusion, Gra... ORPHA:2980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Arthropathy, Osteolysis, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Clinodactyly of the 5th finger... ORPHA:73272
Kid Syndrome
Abnormality of the tongue, Delayed eruption of teeth, Carious teeth, Oral leukoplakia, Osteolysis... ORPHA:477
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Rickets, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Dental crowding, Short fing... OMIM:190351
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Greenberg Dysplasia
Abnormal bone ossification, Calvarial skull defect, Rhizomelia, Anterior rib punctate calcificati... ORPHA:1426
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Midface retrusion, Everted lower lip vermi... OMIM:617877
Temple-Baraitser Syndrome
Long philtrum, Delayed eruption of teeth, Broad thumb, Open mouth, Short phalanx of the thumb, Ev... ORPHA:420561
Schwartz-Jampel Syndrome
Pursed lips, Wormian bones, Arthrogryposis multiplex congenita, Narrow mouth, Elbow dislocation, ... ORPHA:800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Osteolysis, Abnormality of calvarial morphology, Pathologic ... ORPHA:52430
Fanconi Anemia, Complementation Group S
Narrow palate, Thick upper lip vermilion, Proximal placement of thumb, Clinodactyly, Failure to t... OMIM:617883
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Small anterior fontanelle, Premature posterior fontanelle closure, S... OMIM:314320
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Carious teeth, Recurrent fractures, Thickened calvaria, Osteopenia, Femoral bowing OMIM:126550
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis, Oligodontia, Natal tooth, Hypodontia OMIM:601345
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Narrow palate, Broad thumb, Dental crowding, Split ha... OMIM:305450
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Metaphyseal... OMIM:608154
Occipital Horn Syndrome
Large iliac wing, Large fontanelles, Pes planus, Abnormality of fibula morphology, High, narrow p... ORPHA:198
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Brachydactyly, Dental malocclusion, Micrognathia, Malar flattening ORPHA:436245
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Small anterior fontanelle, Premature posterior fontanelle cl... ORPHA:3369
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Long philtrum, Hiatus hernia, Wide anterior fontanel, Thin upper lip vermilion, Splenic cyst, Spl... OMIM:610199
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Pes planus, Deep plantar creases, Wide ... ORPHA:3473
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Trisomy 4P
Radial club hand, Carious teeth, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal pal... ORPHA:1738
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Large fontanelles, Abno... ORPHA:1525
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Long philtrum, Thin vermilion border, Joint hypermobility, Dislocated radial head, ... OMIM:614856
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Everted lower lip vermilion, Prominent occiput, ... OMIM:616920
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Short philtrum, Narrow palate, Joint laxity, Open mouth, Genu recurvatum, Pes plan... ORPHA:364028
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Mandibula... OMIM:259775
Kenny-Caffey Syndrome, Type 1
Carious teeth, Delayed closure of the anterior fontanelle, Short foot, Slender long bone, Small h... OMIM:244460
Desbuquois Dysplasia 1
Short metatarsal, Narrow mouth, Joint laxity, Pes planus, Phalangeal dislocation, Broad first met... OMIM:251450
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Abnormal cortical bone morphology ORPHA:2512
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Midface retrusion, Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Wi... OMIM:603463
Osteogenesis Imperfecta, Type X
Genu valgum, Joint laxity, Generalized joint laxity, Midface retrusion, Bowing of the long bones,... OMIM:613848
Chromomycosis
Osteolysis, Ankylosis, Abnormality of the lower limb, Abnormal oral cavity morphology, Abnormal f... ORPHA:182
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Joint hypermobility, Oligodontia, Dental crowding, Pierre-Robin sequence, Thic... OMIM:619184
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Short philtrum, Craniosynostosis, Broad thumb, Flared iliac win... ORPHA:949
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation, Increased bod... OMIM:614450
Maternal Uniparental Disomy Of Chromosome 1
Abnormality of limb bone morphology, Delayed closure of the anterior fontanelle, Epiphyseal stipp... ORPHA:251009
Harrod Syndrome
Narrow mouth, Joint hyperflexibility, Abnormal shoulder morphology, Failure to thrive, High palat... ORPHA:2115
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Hiatus hernia, Esophagitis, Rickets, Joint hyperflexibility, Abnorma... ORPHA:1901
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Large fontanelles, Everted lower lip vermili... ORPHA:181393
Transaldolase Deficiency
Short philtrum, Thin vermilion border, Wide anterior fontanel, Deep philtrum, Wide mouth, Pancyto... OMIM:606003
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Frontal bossing, Femur fracture, Osteopetrosis, Increased bone m... OMIM:259700
Achondrogenesis
Long philtrum, Abnormal enchondral ossification, Frontal bossing, Abnormality of bone mineral den... ORPHA:932
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of car... ORPHA:93346
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Camptodactyly of finger... ORPHA:464
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Macroglossia, Craniosynostosis, Osteolysis, Joint laxity, Genu... ORPHA:309282
Schimke Immuno-Osseous Dysplasia
Hypoplastic pelvis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion o... ORPHA:1830
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Steatorrhea, Anemia of inadequate production, Failure to thrive, Splenomegaly, Ane... OMIM:612714
Schinzel-Giedion Syndrome
Wormian bones, Camptodactyly, Failure to thrive in infancy, Short distal phalanx of finger, High ... ORPHA:798
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Carious teeth, Abnormal palate morphology, Reduced bone mineral density, Congenital py... ORPHA:2617
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, We... ORPHA:98850
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Increased overbite, C... OMIM:618761
Osteogenesis Imperfecta
Joint hypermobility, Abnormal dental enamel morphology, Carious teeth, Abnormality of long bone m... ORPHA:666
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Radial deviation of finger, Furrowed tongue, Clinodactyly,... OMIM:248950
Mccune-Albright Syndrome
Abnormality of facial skeleton, Recurrent fractures, Fibrous dysplasia of the bones, Aneurysmal b... ORPHA:562
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Mandibular prognathia, C... ORPHA:96334
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Dolichocephaly, Wide anterior fontanel ORPHA:44
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Desmoid Tumor
Osteolysis, Intestinal polyposis, Malabsorption, Intestinal obstruction, Limitation of joint mobi... ORPHA:873
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Craniosynostosis, Joint hyperflexibility, Recurrent fractures, Abnorma... ORPHA:2314
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Dislocated radial head, Radioulnar synostosis, Irregularly spac... ORPHA:99329
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Joint laxity, Short phalanx of finger, Clinodac... OMIM:170390
Autosomal Recessive Cutis Laxa Type 2A
Long philtrum, Joint hypermobility, Congenital hip dislocation, Wide anterior fontanel, Frontal b... ORPHA:357058
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Wide anterior fontanel, Thin upper lip vermilion, High palate, Dolichocephaly OMIM:613623
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Large fontanelles, Mandibular prognathia, Increased bone miner... ORPHA:2658
Classic Hodgkin Lymphoma
Osteolysis, Weight loss, Splenomegaly ORPHA:391
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Abnormality of dental morphology, Recurrent fractures, Ste... ORPHA:2176
Dyskeratosis Congenita
Oral leukoplakia, Osteoporosis, Carious teeth, Esophageal stenosis, Taurodontia, Palmoplantar ker... ORPHA:1775
Craniofaciofrontodigital Syndrome
Long philtrum, Joint hypermobility, Cubitus valgus, Frontal bossing, Hypoplastic pelvis, Palmopla... OMIM:114620
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Joint hypermobility, Congenital hip dislocation, Hypo... OMIM:617052
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Sapho Syndrome
Inflammation of the large intestine, Abnormal sacroiliac joint morphology, Osteolysis, Craniofaci... ORPHA:793
Acrofrontofacionasal Dysostosis 2
Hand polydactyly, Broad thumb, Wide anterior fontanel, Syndactyly, Brachycephaly, High palate, Br... OMIM:239710
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel OMIM:275100
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Midface retrusion, Limb undergr... OMIM:118651
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, L... OMIM:154780
Cardiofaciocutaneous Syndrome 1
Open bite, Cubitus valgus, Open mouth, Deep philtrum, Osteopenia, Thick vermilion border, Abnorma... OMIM:115150
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida ... OMIM:201000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Joint hypermobility, Broad distal phalanx of finger, Short femur, Narr... OMIM:300990
Kabuki Syndrome 2
Joint laxity, Natal tooth, Decreased body weight, Hypodontia, Brachydactyly, Prominent fingertip ... OMIM:300867
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate OMIM:615502
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Laron Syndrome
Delayed eruption of teeth, Abnormality of the elbow, Tooth agenesis, Brachydactyly, Truncal obesi... ORPHA:633
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Frontal bossing, Aplasia/Hypoplasia... ORPHA:488437
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Distal Monosomy 12Q
Failure to thrive in infancy, High, narrow palate, Micrognathia, Elbow flexion contracture, Media... ORPHA:96149
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Narrow palate, Broad thumb, Downturned corners of mouth, Dental crow... OMIM:180700
Nail-Patella Syndrome
Enamel hypoplasia, Abnormality of tibia morphology, Pes planus, Abnormality of the elbow, Iliac h... ORPHA:2614
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Fibrochondrogenesis
Camptodactyly of finger, Wide anterior fontanel, Narrow mouth, Hypoplastic scapulae, Short ribs, ... ORPHA:2021
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Wide anterior fontanel, Frontal bossin... ORPHA:15
Tetrasomy 5P
Short hallux, Long philtrum, Talipes equinovarus, Wide anterior fontanel, Overlapping toe, Midfac... ORPHA:3309
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Short phalanx of finger, Frontal bossing, Cone-shaped epiphysis, ... OMIM:266920
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Talipes, Genu recurvatum, Join... ORPHA:915
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Tarsal synostosis, Narrow mouth, Camptodactyly, High, narrow palate, Elbow flex... ORPHA:95699
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Mixed Connective Tissue Disease
Osteolysis, Hemolytic anemia, Joint swelling, Xerostomia, Joint stiffness, Gastritis, Leukopenia,... ORPHA:809
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum, Coxa valga OMIM:613312
Cutis Laxa, Autosomal Recessive, Type Iib
Joint hypermobility, Congenital hip dislocation, Large fontanelles, Frontal bossing, Midface retr... OMIM:612940
Sener Syndrome
Wide anterior fontanel, Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, High palate, Anteri... OMIM:606156
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, Lambdoidal cr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, Lambdoidal cr... ORPHA:352665
Hypophosphatasia
Craniosynostosis, Large fontanelles, Bowing of the long bones, Recurrent fractures, Abnormality o... ORPHA:436
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Downturned corners of mouth, Pierre-Robin sequence, Anteriorly placed anu... OMIM:217980
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Wide anterior fo... ORPHA:457279
Kniest-Like Dysplasia, Lethal
Wide anterior fontanel, Narrow mouth, Metaphyseal irregularity, Short diaphyses, Rhizomelia, Hypo... OMIM:245190
Peters-Plus Syndrome
Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral incisor, Joint laxity, Sho... OMIM:261540
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Joi... ORPHA:73223
H Syndrome
Osteolysis, Microcytic anemia, Pes planus, Camptodactyly, Malabsorption, Recurrent fractures, His... ORPHA:168569
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Spondyloenchondrodysplasia
Delayed eruption of teeth, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Midface retr... ORPHA:1855
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Overlapping toe, Camptodactyly, Dental malocclusion, Smooth philtrum, Abnormality ... ORPHA:363444
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... ORPHA:85321
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Midface retrusion, Decrease... OMIM:617241
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Wide anterior fontanel, Frontal bossing, Split... ORPHA:1860
Takenouchi-Kosaki Syndrome
Long philtrum, Short philtrum, Downturned corners of mouth, Overlapping toe, Midface retrusion, C... OMIM:616737
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Pachydermoperiostosis
Osteoporosis, Osteomyelitis, Osteolysis, Joint swelling, Palmoplantar keratoderma, Abnormality of... ORPHA:2796
Oliver Syndrome
Camptodactyly of finger, Short philtrum, Postaxial hand polydactyly, Mandibular prognathia, Posta... ORPHA:2920
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Hypoplasia of the radius, Short femur, Midface retrusion, Rhizomelia, Short humer... OMIM:607143
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Narrow mouth, Downturned corne... OMIM:211910
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Hypodontia, Oral mucosal blisters, Plantar hyperkeratosis... OMIM:226650
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Midface retrusion, Macrodontia of permanent maxillary central incisor... ORPHA:444072
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Femoral bowing, Craniosynostosis, Overlapping toe, Thick vermilion border, Tented upper lip vermi... OMIM:616723
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Taurodontia, Large hands, Abnormality... ORPHA:3220
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Long philtrum, Overlapping toe, Mandibular prognathia, Smooth philtrum, Tent... OMIM:618975
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Erythroid hyperplasia, Splenomegaly, Osteopenia, Eryt... ORPHA:95159
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Camurati-Engelmann Disease
Carious teeth, Abnormality of tibia morphology, Pes planus, Hyperostosis, Leukopenia, Anemia, Abn... ORPHA:1328
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Neutropenia,... ORPHA:2643
Cockayne Syndrome B
Osteoporosis, Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Square pelvi... OMIM:133540
Geroderma Osteodysplasticum
Osteoporosis, Femoral bowing, Wormian bones, Mandibular prognathia, Camptodactyly, Periodontitis,... OMIM:231070
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Large fontanelles, Delaye... ORPHA:1832
7Q11.23 Microduplication Syndrome
Joint hypermobility, Short philtrum, Thin vermilion border, Craniosynostosis, Drooling, Cubitus v... ORPHA:96121
Oculocerebrorenal Syndrome Of Lowe
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Joint swelling, Open ... ORPHA:534
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Toe syndactyly, Radioulnar synostosis, La... ORPHA:171839
Antley-Bixler Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Frontal bossing, Talipes,... ORPHA:83
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Kyphomelic Dysplasia
Radial bowing, Short femur, Ulnar bowing, Dumbbell-shaped humerus, Short humerus, Short metacarpa... OMIM:211350
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Elb... OMIM:601559
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Genu valgum, Hand polydactyly, Conical incisor,... ORPHA:289
Nance-Horan Syndrome
Mulberry molar, Short phalanx of finger, Diastema, Screwdriver-shaped incisors, Supernumerary max... OMIM:302350
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Short distal phalanx of finger, High palate, High, narrow palate... OMIM:218330
Pseudoachondroplasia
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Flat ace... ORPHA:750
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Ctcf-Related Neurodevelopmental Disorder
Long philtrum, Thin vermilion border, Short philtrum, Craniosynostosis, Narrow mouth, Midface ret... ORPHA:363611
Flynn-Aird Syndrome
Carious teeth, Bone cyst, Joint stiffness, Cachexia ORPHA:2047
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormality of the ischium, Mesomelic/rhizomelic limb shortening, Broad l... ORPHA:2347
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short thumb, Hig... ORPHA:93307
Coffin-Lowry Syndrome
Narrow palate, Open mouth, Pes planus, Short distal phalanx of finger, High palate, Hypoplasia of... ORPHA:192
Mucopolysaccharidosis, Type Iva
Osteoporosis, Genu valgum, Carious teeth, Joint laxity, Constricted iliac wing, Mandibular progna... OMIM:253000
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Craniosynostosis, Joint hyperflexibility, Short sternum, Hypoca... ORPHA:3134
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Frontal bossing, Pes planus, Agenesis... OMIM:311450
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Persistence of primary teeth, Sandal gap, Bro... OMIM:618727
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Palmoplantar keratoderma, Oral mucosal blisters, Anemia ORPHA:79402
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Deep philtrum, Camptodactyly, Down-sloping shoulders,... OMIM:227330
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Cri-Du-Chat Syndrome
Short philtrum, Short metatarsal, Downturned corners of mouth, Microretrognathia, Pes planus, Ora... OMIM:123450
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Broad thumb, Agenesis of permanent teeth, Downturned corners of mouth, Short phala... OMIM:616894
Mucopolysaccharidosis Type 4
Genu valgum, Carious teeth, Abnormal dental enamel morphology, Abnormality of epiphysis morpholog... ORPHA:582
Fontaine Progeroid Syndrome
Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Short distal phalanx of finge... OMIM:612289
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Narrow palate, Narrow mouth, Joint laxity, Dental crowdin... OMIM:180849
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Midface retrusion, Abnormal palate morphology, Bone cyst, Flexion contracture, Narrow... ORPHA:3042
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equinovarus, Dental crowding, Cam... OMIM:616354
Hypophosphatemic Rickets
Rickets, Periapical tooth abscess, Tooth abscess, Craniofacial osteosclerosis, Craniofacial asymm... ORPHA:437
Sponastrime Dysplasia
Hip subluxation, Hypoplasia of the nasal bone, Joint laxity, Metaphyseal irregularity, Pes planus... ORPHA:93357
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79405
Char Syndrome
Short philtrum, Hand polydactyly, Toe syndactyly, Everted lower lip vermilion, Thick vermilion bo... ORPHA:46627
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Frontal bossing, Mid... ORPHA:2050
Robinow Syndrome
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Small for gestatio... ORPHA:97360
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Genu valgum, Carious teeth, Joint laxity, Constricted iliac wing, Mandibular progna... OMIM:253010
Blomstrand Lethal Chondrodysplasia
Long philtrum, Synostosis of joints, Abnormality of epiphysis morphology, Rhizomelia, Natal tooth... ORPHA:50945
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Frontal bossing, Everted lower lip vermilion, Short distal phalanx of ... ORPHA:181
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Abnorm... ORPHA:2107
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Congenital Erythropoietic Porphyria
Osteoporosis, Poikilocytosis, Osteolysis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasi... ORPHA:79277
Phelan-Mcdermid Syndrome
Long philtrum, Joint hypermobility, 2-3 toe syndactyly, Dolichocephaly, Large hands, Clinodactyly... OMIM:606232
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, Sandal gap, High palate, Brachydactyly, Malar flattening OMIM:600991
Chst3-Related Skeletal Dysplasia
Long philtrum, Genu valgum, Delayed eruption of teeth, Cubitus valgus, Enlarged joints, Rhizomeli... ORPHA:263463
Mosaic Variegated Aneuploidy Syndrome
Osteolysis, Frontal bossing, Micrognathia, Duodenal atresia, Stomach cancer, Intestinal polyposis... ORPHA:1052
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Abnorm... ORPHA:137888
Mohr Syndrome
Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palat... OMIM:252100
Gapo Syndrome