Gene Summary

Name:
sclerostin domain containing 1
Synonyms:
Sostl,  ectodin,  USAG-1,  Wise

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Sostdc1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
persistence of hyaloid vascular system Sostdc1tm1.1(KOMP)Vlcg HOM   Early adult 1.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 0.0% (0 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

7 Images

Adult LacZ

LacZ Images Section

77 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Sostdc1 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 Sostdc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Tooth Agenesis, Selective, 3
Oligodontia, Microdontia OMIM:604625
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Taurodontism
Taurodontia OMIM:272700
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Anodontia Of Permanent Dentition
Anodontia OMIM:206780
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Macrocephaly, Benign Familial
Long philtrum, Biparietal narrowing, Frontal bossing, Macrocephaly, Dolichocephaly OMIM:153470
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Tooth Agenesis, Selective, 9
Selective tooth agenesis OMIM:617275
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Isotretinoin Syndrome
Micrognathia, Biparietal narrowing, Cleft palate ORPHA:2305
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Tetraploidy
Short philtrum, Biparietal narrowing, Cleft palate, Microcephaly, Micrognathia ORPHA:3305
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Fryns Macrocephaly
Postnatal macrocephaly, Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of p... OMIM:600302
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Macrocephaly/Autism Syndrome
Postnatal macrocephaly, Long philtrum, Biparietal narrowing, Frontal bossing OMIM:605309
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Biparietal narrowing, Abnormality of the dentition, Smooth philtru... ORPHA:261190
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Mandibular prognathia, Abnorma... ORPHA:3079
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... ORPHA:2919
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Narrow palate, Narrow mouth, Abnormality of calvarial morphology, Micrognathia ORPHA:1323
1Q44 Microdeletion Syndrome
Thin vermilion border, Biparietal narrowing, Frontal bossing, Intestinal malrotation, Smooth phil... ORPHA:238769
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Microretrognathia, Thick vermilion border, Hypoplasia of the... ORPHA:228396
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Toluene Embryopathy
Thin vermilion border, Biparietal narrowing, Smooth philtrum, Hypoplasia of the zygomatic bone, M... ORPHA:1920
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Fetal Alcohol Syndrome
Biparietal narrowing, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Cleft pal... ORPHA:1915
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Flat occiput, Supernumerary tooth, Bifid uvula, High palate, T... OMIM:617412
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
3Q29 Microduplication Syndrome
Craniosynostosis, Biparietal narrowing, Large fontanelles, Deep philtrum, Abnormality of the dent... ORPHA:251038
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrognathia, Micrognathia, Submu... ORPHA:2521
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Mucolipidosis Type Iv
Microcephaly, Everted lower lip vermilion, Biparietal narrowing, Microdontia ORPHA:578
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Chromosome 22Q11.2 Duplication Syndrome
High palate, Micrognathia, Microcephaly, Velopharyngeal insufficiency OMIM:608363
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Osteopenia, Camptodactyly, Joint contracture of the hand OMIM:264010
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteoporosis
Osteoporosis OMIM:166710
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate ORPHA:1770
Lig4 Syndrome
Thin vermilion border, Biparietal narrowing, Brachycephaly, Microcephaly, Micrognathia, Malabsorp... ORPHA:99812
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Nance-Horan Syndrome
Mulberry molar, Diastema, Supernumerary maxillary incisor, Screwdriver-shaped incisors OMIM:302350
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Biparietal narrowing, Frontal bossing, Wide mouth, Brachycephaly, Microcephaly, Ma... ORPHA:1292
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Peho Syndrome
Biparietal narrowing, Open mouth, Midface retrusion, Abnormal palate morphology, Microcephaly, Gi... ORPHA:2836
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
16Q24.3 Microdeletion Syndrome
Long philtrum, Biparietal narrowing, Frontal bossing, Smooth philtrum, Wide mouth, Thick vermilio... ORPHA:261250
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High palate, Dental mal... OMIM:264475
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Macroceph... ORPHA:1452
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Clark-Baraitser syndrome
Frontal bossing, Maxillary lateral incisor microdontia, Macrocephaly, Exaggerated median tongue f... OMIM:300602
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Recurrent mandibular subluxations, Gingival hyperkeratosis, Everted lower lip ... OMIM:225410
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Midface retrusion, Unilateral cleft lip, Supernumerary tooth, High, narrow palate, M... ORPHA:1787
Adducted Thumbs Syndrome
Craniosynostosis, Cleft palate, High palate, High, narrow palate, Microcephaly, Velopharyngeal in... OMIM:201550
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
X-Linked Intellectual Disability, Cabezas Type
Open bite, Short philtrum, Biparietal narrowing, Wide mouth, Macrocephaly, High palate, Thick low... ORPHA:85293
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Abnormal palate morphology, Deep philtrum, Recurrent urinary tract infections, Abn... ORPHA:502
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bone ossification ORPHA:1952
Atkin-Flaitz Syndrome
Frontal bossing, Maxillary lateral incisor microdontia, Macrocephaly, Exaggerated median tongue f... OMIM:300431
Hallermann-Streiff Syndrome
Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Natal tooth, High palate, High... OMIM:234100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Dental crowding, Smooth philtrum, Thin upper lip vermilion, Supernumerary tooth OMIM:190351
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Microcephaly, Abnormal dental enamel morphology, Biparietal narrowing, Turricephaly ORPHA:1005
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Thin vermilion border, Patent ductus arteriosus, Thick vermilion border, Glomerulopathy, Microsco... ORPHA:86818
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate, Microcephaly OMIM:615502
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, High, narrow palate, Incisor macrodontia, Thick vermi... ORPHA:166108
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia ORPHA:3214
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Frontal bossing, Long upper lip, Abnormality of the dentition, Supernumerary tooth... ORPHA:77258
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Hypercholanemia, Familial 1
Rickets OMIM:607748
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
8P23.1 Microdeletion Syndrome
Thin vermilion border, Biparietal narrowing, High palate, Micrognathia, Microcephaly ORPHA:251071
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening OMIM:613849
Lathosterolosis
Long philtrum, Biparietal narrowing, Downturned corners of mouth, Gingival overgrowth, High palat... ORPHA:46059
Joubert Syndrome With Renal Defect
Oral cleft, Biparietal narrowing, Aganglionic megacolon, Cleft palate ORPHA:220497
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Glossoptosis ORPHA:2031
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, High palate, Dental maloc... OMIM:157980
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, M... ORPHA:2980
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cranial hyperosto... OMIM:259710
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79405
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Increased overbite, Cleft lip, Cleft... OMIM:618761
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormal bone structure, Flexion contracture, Recurrent fractures, Generalized ... ORPHA:1306
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Midline notch of upper alveolar ridge, Tongue nodules, Frontal bossing, Ham... ORPHA:2754
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Supernumerary tooth, Abnormality of dental morphology, Tooth agenesis ORPHA:3353
Duplication Of The Pituitary Gland
Abnormality of the tongue, Midface retrusion, Wide mouth, Cleft palate, Volvulus, Supernumerary t... ORPHA:314621
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Mosaic Trisomy 9
Biparietal narrowing, Large fontanelles, Intestinal malrotation, Prominent occiput, Cleft palate,... ORPHA:99776
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted lower lip vermilion, Microdontia, Everted upper lip vermilion ORPHA:181
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Delayed eruption of primary teeth, Narrow palate, Absent fronta... OMIM:119600
Joubert Syndrome With Ocular Defect
Oral cleft, Biparietal narrowing, Aganglionic megacolon, Cleft palate ORPHA:220493
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus ORPHA:231736
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, Abnormal leuko... ORPHA:53
Distal 22Q11.2 Microduplication Syndrome
Long philtrum, Macroglossia, Short philtrum, Biparietal narrowing, Frontal bossing, Mandibular pr... ORPHA:261337
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Non-Distal Monosomy 10Q
Biparietal narrowing ORPHA:1581
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth OMIM:104570
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Joubert Syndrome
Oral cleft, Biparietal narrowing, Aganglionic megacolon ORPHA:475
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia ORPHA:1816
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis ORPHA:3019
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Plagiocephaly, Cleft palate, Microdontia OMIM:605282
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Biparietal narrowing ORPHA:2518
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, Thick upper lip vermilion... ORPHA:2563
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Downturned corners of mouth, Mic... ORPHA:2409
Orofacial Cleft 15
Agenesis of lateral incisor, Midface retrusion, Palate fistula, Bilateral cleft palate, Bilateral... OMIM:616788
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hypodontia, Supernumerary tooth, Conical tooth, Microdontia, Micrognathia, Widely spaced teeth ORPHA:90024
Monosomy 18Q
Short philtrum, Biparietal narrowing, Downturned corners of mouth, Open mouth, Mandibular prognat... ORPHA:1600
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Frontal bossing, Tongue nodules, M... OMIM:311200
Cardiofaciocutaneous Syndrome
Long philtrum, Biparietal narrowing, Frontal bossing, Hypoplasia of the zygomatic bone, Macroceph... ORPHA:1340
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Aplasia Cutis Congenita
Abnormality of bone mineral density ORPHA:1114
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Pathologic fracture, ... ORPHA:77259
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Frontal bossing, Natal tooth, Abnormality of the dentiti... ORPHA:2108
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia ORPHA:3220
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Rickets, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Tooth agenesis, Broad alveolar ridges, Hi... ORPHA:2863
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Aganglionic megacolon ORPHA:2318
C Syndrome
Long philtrum, Thin vermilion border, Biparietal narrowing, Smooth philtrum, Trigonocephaly, Abno... ORPHA:1308
Pallister W Syndrome
Agenesis of central incisor, Frontal bossing, Agenesis of maxillary central incisor, Broad uvula,... OMIM:311450
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:600081
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the mouth ORPHA:181393
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, E... ORPHA:289176
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Biparietal narrowing, Abnormality of dental mor... ORPHA:818
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue... OMIM:252100
X-Linked Intellectual Disability Due To Gria3 Mutations
Short philtrum, Narrow palate, Open mouth, Mandibular prognathia, Thick vermilion border, Macrodo... ORPHA:364028
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Open mouth, Taurodontia, Mandibular prognathia... ORPHA:819
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia ORPHA:157215
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Glossoptosis, Microcephaly, High, narrow palate, Abnormality of the mandible, Submuco... ORPHA:3201
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Biparietal narrowing, Malabsorption, Aganglionic megacolon ORPHA:935
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Hepatosplenomegaly, Di... OMIM:259730
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,... OMIM:613684
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Linear Nevus Sebaceus Syndrome
Biparietal narrowing, Prominent occiput, Frontal bossing, Plagiocephaly ORPHA:2612
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Widely-spaced maxillary central incisor... ORPHA:363417
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Frontal bossing, Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, T... ORPHA:438216
Familial Adenomatous Polyposis 1
Carious teeth, Abnormality of the dentition, Eruption failure, Supernumerary tooth, Odontoma OMIM:175100
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia OMIM:614450
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Taurodontia, Selective tooth agenesis, Broad alveolar ridges, C... OMIM:164200
Cohen Syndrome
Short philtrum, Open mouth, Macrodontia of permanent maxillary central incisor, Microcephaly, Hig... OMIM:216550
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Frontal bossing, Mic... OMIM:268400
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Natal tooth, Hypodontia OMIM:601345
Autosomal Dominant Robinow Syndrome
Open bite, Long philtrum, Oligodontia, Median cleft lip and palate, Short philtrum, Macrocephaly,... ORPHA:3107
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossi... OMIM:241530
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Selective tooth agenesis, Microdontia, Widely sp... ORPHA:1897
Chime Syndrome
Short philtrum, Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion b... ORPHA:3474
Laron Syndrome
Delayed eruption of teeth, Microdontia, Micrognathia, Tooth agenesis ORPHA:633
Amelogenesis Imperfecta, Type Ig
Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ... OMIM:204690
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Anemia, Sclerosis of ... OMIM:131300
Distal Monosomy 12Q
Long philtrum, Wide anterior fontanel, Frontal bossing, Micrognathia, Esophageal atresia, Smooth ... ORPHA:96149
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Horseshoe kidney, Narrow mouth, Abnormality of dental ... ORPHA:2136
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth OMIM:617337
Schimke Immuno-Osseous Dysplasia
Abnormality of primary molar morphology, Microdontia, Hypodontia ORPHA:1830
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Everted lower lip vermilion, Thick vermilion border, Hypodontia, Abnormal oral mucos... OMIM:305100
Autosomal Recessive Robinow Syndrome
Open bite, Long philtrum, Ankyloglossia, Short philtrum, Downturned corners of mouth, Frontal bos... ORPHA:1507
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Oslam Syndrome
Carious teeth ORPHA:2760
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Oligodontia, Hypodontia OMIM:614381
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Long philtrum, Dental crowding, Wide mouth, High palate OMIM:618825
Orofaciodigital Syndrome Xiv
Micrognathia, Microretrognathia, Natal tooth, Hamartoma of tongue, Aplasia of the epiglottis, Bif... OMIM:615948
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly... OMIM:259720
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Thick vermilion border, ... OMIM:616354
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... OMIM:616367
Marshall Syndrome
Long philtrum, Absent frontal sinuses, Pierre-Robin sequence, Micrognathia, Midface retrusion, Th... OMIM:154780
Joubert Syndrome With Hepatic Defect
Oral cleft, Macrocephaly, Biparietal narrowing ORPHA:1454
Schwartz-Jampel Syndrome
Pursed lips, Long philtrum, Narrow mouth, Everted lower lip vermilion, Abnormality of the urinary... ORPHA:800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Cherubism
Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impacted teeth, Den... OMIM:118400
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Mandibular prognathia, Wide mouth, Thick vermilion bor... ORPHA:137834
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:264700
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Patent ductus arteriosus, Hypodontia, Supernumerary tooth, Accessory oral frenulum OMIM:617088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Enamel-Renal Syndrome
Impaired renal concentrating ability, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:1031
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Midface retrusion, Agenesis of incisor, Bilateral c... OMIM:610829
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:277440
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Alveolar ridge ov... ORPHA:444072
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Taurodontia, Mandibular prognathia, Non-midline... ORPHA:2710
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal... OMIM:269300
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Increased susceptibil... ORPHA:77261
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent ... OMIM:218400
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Open mouth, Dental crowding OMIM:600906
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Narrow mouth, Mesiodens, Macrocephaly, Thick lower lip vermilion ORPHA:314647
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Sotos Syndrome 2
Everted lower lip vermilion, Mandibular prognathia, Advanced eruption of teeth, Narrow mouth OMIM:614753
Osteoglosphonic Dysplasia
Micrognathia, Multiple unerupted teeth, Tooth agenesis ORPHA:2645