Gene Summary

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

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 1.83×10-05

Download data as:  TSV  XLS

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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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

Adult LacZ

LacZ Images Section

77 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

7 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
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Ackerman Syndrome
Taurodontia, Broad philtrum 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
Supernumerary tooth, Mesiodens OMIM:187100
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Diastema, Dental Medial
Widely-spaced maxillary central incisors, Diastema OMIM:125900
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
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
Biparietal narrowing, Dolichocephaly, Long philtrum, Frontal bossing, Macrocephaly 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
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, 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
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Tooth Agenesis, Selective, 9
Selective tooth agenesis OMIM:617275
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Isotretinoin Syndrome
Biparietal narrowing, Cleft palate, Micrognathia ORPHA:2305
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
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
Craniosynostosis, Cleft soft palate, Supernumerary tooth, Frontal bossing, Turricephaly, Unicoron... OMIM:604757
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Tetraploidy
Biparietal narrowing, Short philtrum, Micrognathia, Microcephaly, Cleft palate ORPHA:3305
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal sclerosis, Facial hyperostosis OMIM:218300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth 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
Lambdoidal craniosynostosis, Craniosynostosis, Delayed eruption of teeth, Dolichocephaly, Coronal... OMIM:614188
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Postnatal... OMIM:600302
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Macrocephaly/Autism Syndrome
Biparietal narrowing, Frontal bossing, Long philtrum, Postnatal macrocephaly OMIM:605309
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, High palate, Open bite, Microcephaly, Abnormality of dental morphology, Man... ORPHA:3079
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
15Q14 Microdeletion Syndrome
Biparietal narrowing, Short philtrum, Long philtrum, Microcephaly, Smooth philtrum, Abnormality o... ORPHA:261190
Cleft Lip/Palate
Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Velopharyngeal insuffi... ORPHA:199306
1Q44 Microdeletion Syndrome
Biparietal narrowing, High palate, Intestinal malrotation, Exaggerated cupid's bow, Micrognathia,... ORPHA:238769
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow mouth, Biparietal narrowing, Micrognathia, Narrow palate, Abnormality of calvarial morphology ORPHA:1323
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Enamel hypoplasia, Non-midline cleft lip, Cleft soft palate... ORPHA:2919
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Long philtrum, Hypoplasia of the maxilla, Microretrognathia, Thick vermilio... ORPHA:228396
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Fetal Alcohol Syndrome
Biparietal narrowing, Non-midline cleft lip, Microdontia, Micrognathia, Microcephaly, Smooth phil... ORPHA:1915
Toluene Embryopathy
Biparietal narrowing, Micrognathia, Microcephaly, Smooth philtrum, Hypoplasia of the zygomatic bo... ORPHA:1920
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Supernumerary tooth, Thick lower lip vermilion, Submucous c... OMIM:617412
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
3Q29 Microduplication Syndrome
Biparietal narrowing, High palate, Ectopic anus, Craniosynostosis, Deep philtrum, Microcephaly, L... ORPHA:251038
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Chromosome 22Q11.2 Duplication Syndrome
Microcephaly, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnormality of the dentition,... ORPHA:1193
Mucolipidosis Type Iv
Microdontia, Microcephaly, Everted lower lip vermilion, Biparietal narrowing ORPHA:578
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2026
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures ORPHA:53697
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Microcephaly, Mandibular prognathia, Retr... ORPHA:2521
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... ORPHA:1515
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Osteopenia, Osteoporosis, Joint contracture of the hand OMIM:264010
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Osteoporosis
Osteoporosis OMIM:166710
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Abnormality of the philtrum, Cleft palate, Non-midline cleft lip ORPHA:1770
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Lig4 Syndrome
Biparietal narrowing, Micrognathia, Microcephaly, Malabsorption, Brachycephaly, Thin vermilion bo... ORPHA:99812
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Osteopetrosis, Thrombocytopenia OMIM:615085
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Biparietal narrowing, Long philtrum, Microcephaly, Frontal bossing, Malar flattening, Brachycepha... ORPHA:1292
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Diastema, Screwdriver-shaped incisors OMIM:302350
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Peho Syndrome
Biparietal narrowing, Abnormal palate morphology, Open mouth, Midface retrusion, Microcephaly, Ma... ORPHA:2836
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, High palate, Solitary median maxillary central incisor, Long philtrum, Micr... ORPHA:261250
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Anodontia, Dental malo... OMIM:264475
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bone ossifica... ORPHA:2114
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia, Gingival hyperkeratosis... OMIM:225410
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Cleidocranial Dysplasia
Sinusitis, Wormian bones, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary toot... ORPHA:1452
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Supernumerary tooth, High, narrow palate, Micrognathia, Midfac... ORPHA:1787
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Adducted Thumbs Syndrome
High palate, Craniosynostosis, Velopharyngeal insufficiency, High, narrow palate, Microcephaly, C... OMIM:201550
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Coarse metaphyseal trabecularization, Abnormal bone ossification ORPHA:1952
X-Linked Intellectual Disability, Cabezas Type
Biparietal narrowing, Short philtrum, High palate, Open bite, Thick lower lip vermilion, Microcep... ORPHA:85293
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Abnormality of the dentition, Deep philtrum, Supernume... ORPHA:502
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Microcephaly, Biparietal narrowing, Abnormal dental enamel morphology, Turricephaly ORPHA:1005
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Supernumerary tooth, Dental crowding, Smooth philtrum, Thin upper lip vermilion OMIM:190351
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Microcephaly, Cleft palate, Thin vermilion border, Incisor macrodontia OMIM:615502
Intellectual Disability, Birk-Barel Type
Short philtrum, Dolichocephaly, Open mouth, Tented upper lip vermilion, Micrognathia, High, narro... ORPHA:166108
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus, Proteinuria, Supernumerary tooth, Glomerulopathy, Malar flattening, Mic... ORPHA:86818
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Delayed eruption of teeth, High, narrow palate, Macrodontia, Taurodontia ORPHA:3214
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... ORPHA:69087
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypercholanemia, Familial 1
Rickets OMIM:607748
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Supernumerary tooth, Hypodontia, Micrognathia, M... ORPHA:3473
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip vermilion, Abnormal dental e... ORPHA:10
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Diastema, Agenesis of molar, Supernumerary tooth OMIM:619718
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Biparietal narrowing, Lobulated tongue, Midline notch of upper alveo... ORPHA:2754
Lathosterolosis
Biparietal narrowing, High palate, Long philtrum, Micrognathia, Microcephaly, Prominent metopic r... ORPHA:46059
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Delayed eruption of teeth, Micrognathia, Malar flattening OMIM:613849
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Long philtrum, Supernumerary tooth, Micrognathia, Frontal bossing, Abnormality of th... ORPHA:77258
8P23.1 Microdeletion Syndrome
Biparietal narrowing, High palate, Micrognathia, Microcephaly, Thin vermilion border ORPHA:251071
Joubert Syndrome With Renal Defect
Oral cleft, Biparietal narrowing, Aganglionic megacolon, Cleft palate ORPHA:220497
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Glossoptosis ORPHA:2031
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Smooth philtrum... OMIM:157980
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Persistence of primary teeth, Supernumerary tooth OMIM:619752
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79405
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Liang-Wang Syndrome
Downturned corners of mouth, Everted lower lip vermilion, Macroglossia, Thin upper lip vermilion,... OMIM:618729
Acrootoocular Syndrome
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Microcephaly, ... ORPHA:2980
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Cleft lip, Increased overbite, Cleft palate, Tooth malp... OMIM:618761
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Widely-spaced incisors OMIM:601668
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Splenomegaly, Osteomyelitis, Anem... OMIM:259700
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormality of the tongue, Midface retrusion, Microcephaly, Retrognathia, Vo... ORPHA:314621
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Abnormality of dental morphology, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Hallermann-Streiff Syndrome
Everted lower lip vermilion, Micrognathia, High, narrow palate, Microcephaly, Narrow mouth, High ... OMIM:234100
X-Linked Hypohidrotic Ectodermal Dysplasia
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion ORPHA:181
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Mosaic Trisomy 9
Prominent occiput, High palate, Biparietal narrowing, Intestinal malrotation, Micrognathia, Micro... ORPHA:99776
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Joubert Syndrome With Ocular Defect
Oral cleft, Biparietal narrowing, Aganglionic megacolon, Cleft palate ORPHA:220493
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Non-Distal Monosomy 10Q
Biparietal narrowing ORPHA:1581
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Distal 22Q11.2 Microduplication Syndrome
Biparietal narrowing, High palate, Short philtrum, Long philtrum, Micrognathia, Macroglossia, Ana... ORPHA:261337
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Wormian bones, Enamel hypopla... OMIM:119600
Joubert Syndrome
Oral cleft, Biparietal narrowing, Aganglionic megacolon ORPHA:475
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Deep philtrum, Microdontia, Talon cusp, Diastema, Cleft palate OMIM:605282
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Biparietal narrowing ORPHA:2518
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Thick upper lip... ORPHA:2563
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Monosomy 18Q
Biparietal narrowing, Short philtrum, High palate, Open mouth, Microcephaly, Wide mouth, Mandibul... ORPHA:1600
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Hypodontia, Abnormal oral frenulum morp... ORPHA:952
Lowry-Maclean Syndrome
Craniosynostosis, Small anterior fontanelle, Widely patent coronal suture, Micrognathia, High, na... ORPHA:2409
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Hypodontia, Microdontia, Widely spaced teeth, Supernumerary tooth, Micrognathia ORPHA:90024
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Delayed eruption of teeth, Long philtrum, Hypoplasia of teeth, Micrognathia, Hypopl... OMIM:257850
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Congenital hypoplastic anemia, Leukocytosis,... ORPHA:77297
Orofacial Cleft 15
Bilateral cleft lip, Midface retrusion, Palate fistula, Bilateral cleft palate, Agenesis of later... OMIM:616788
Cardiofaciocutaneous Syndrome
Biparietal narrowing, High palate, Long philtrum, Submucous cleft hard palate, Frontal bossing, H... ORPHA:1340
Gaucher Disease Type 1
Pancytopenia, Osteopenia, Increased bone mineral density, Leukopenia, Osteoarthritis, Splenomegal... ORPHA:77259
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Rickets, Tooth abscess, Osteomalacia ORPHA:89937
Aplasia Cutis Congenita
Abnormality of bone mineral density ORPHA:1114
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Dolichocephaly, Enamel... OMIM:311200
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Hallermann-Streiff Syndrome
Narrow mouth, Supernumerary tooth, Abnormality of the tongue, Micrognathia, High, narrow palate, ... ORPHA:2108
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Osteomalacia, Bone cyst, Osteolysis, Coarse metaphy... ORPHA:93160
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia ORPHA:3220
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
48,Xxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Rickets OMIM:611590
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Abnormality of the philtrum, Micro... ORPHA:2863
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Aganglionic megacolon ORPHA:2318
C Syndrome
Accessory oral frenulum, High palate, Biparietal narrowing, Long philtrum, Micrognathia, Microcep... ORPHA:1308
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:600081
Pallister W Syndrome
Broad uvula, Agenesis of central incisor, Submucous cleft hard palate, Frontal bossing, Agenesis ... OMIM:311450
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Abnormality of the mouth, Delayed eruption of teeth ORPHA:181393
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, High, narrow palate ORPHA:3238
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Long philtrum, Supernumerary tooth, Aganglionic megacolon, Bifid tongue, Mi... ORPHA:818
Joubert Syndrome With Hepatic Defect
Oral cleft, Macrocephaly, Biparietal narrowing ORPHA:1454
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Smith-Magenis Syndrome
Short philtrum, Cleft upper lip, Open mouth, Tented upper lip vermilion, Micrognathia, Delayed er... ORPHA:819
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Brachycepha... ORPHA:364028
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Cleft mandible, Prominent metopic ridge, Oligodontia, Agenesis of central ... ORPHA:364577
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Wormian bones, Lobulated tongue, Agenesis o... OMIM:252100
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets, Osteomalacia ORPHA:157215
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Biparietal narrowing, Aganglionic megacolon, Malabsorption ORPHA:935
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Micrognathia, Increased overbite, Retrognathia, Dental malocclusion, ... OMIM:613684
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing ORPHA:2612
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Sclerosis of skull base, Anemia, Cortical t... OMIM:131300
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Selective ... OMIM:164200
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia OMIM:614450
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... ORPHA:363417
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Abnormal mandible morphology, High, narrow palate, Submucous cleft hard palate, Micro... ORPHA:3201
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Cohen Syndrome
Short philtrum, Open mouth, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Microce... OMIM:216550
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Microcephaly, Frontal boss... ORPHA:438216
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Delayed eruption of teeth, Dental crowding, Wide mouth OMIM:618825
Familial Adenomatous Polyposis 1
Abnormality of the dentition, Carious teeth, Supernumerary tooth, Eruption failure, Odontoma OMIM:175100
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Autosomal Recessive Robinow Syndrome
Short philtrum, Ectopic anus, Abnormal palate morphology, Long philtrum, Open bite, Hypodontia, S... ORPHA:1507
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum OMIM:617337
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Laron Syndrome
Tooth agenesis, Microdontia, Delayed eruption of teeth, Micrognathia ORPHA:633
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Microdontia, Supernumerary tooth, Hypoplasia of teeth, ... ORPHA:2909
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Supernumerary tooth, Microdo... OMIM:268400
Autosomal Dominant Robinow Syndrome
Short philtrum, Long philtrum, Open bite, Oligodontia, Hypodontia, Supernumerary tooth, Micrognat... ORPHA:3107
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth OMIM:619356
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Chime Syndrome
Short philtrum, Hydronephrosis, Hypodontia, Microdontia, Supernumerary tooth, Abnormality of the ... ORPHA:3474
Distal Monosomy 12Q
Long philtrum, Supernumerary tooth, Micrognathia, High, narrow palate, Esophageal atresia, Microg... ORPHA:96149
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Conical tooth, Abnormal oral mucosa morphology, Hypodontia, Microdontia, Everted lower lip vermil... OMIM:305100
Schimke Immuno-Osseous Dysplasia
Abnormality of primary molar morphology, Hypodontia, Microdontia ORPHA:1830
Hennekam Syndrome
Narrow mouth, Short philtrum, Ectopic kidney, Horseshoe kidney, Delayed eruption of teeth, Abnorm... ORPHA:2136
Oslam Syndrome
Carious teeth ORPHA:2760
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Macroglossia, Dental crowding, Broad philt... OMIM:616354
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Delayed eruption o... OMIM:616367
Marshall Syndrome
Pierre-Robin sequence, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Thick... OMIM:154780
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Orofaciodigital Syndrome Xiv
Trigonocephaly, Lobulated tongue, Supernumerary tooth, Bifid tongue, Hamartoma of tongue, Microgn... OMIM:615948
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Wide mouth, Premature loss of teeth, Mandibular progna... ORPHA:137834
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Schwartz-Jampel Syndrome
Narrow mouth, High palate, Dental malocclusion, Abnormality of the ureter, Long philtrum, Trismus... ORPHA:800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:264700
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... OMIM:300009
Cherubism
Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Multipl... OMIM:118400
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
W Syndrome
Submucous cleft hard palate, Upper lip pit, Broad uvula, Agenesis of maxillary central incisor ORPHA:2804
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibular prognathia... ORPHA:1133
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612287
Cerebellar-Facial-Dental Syndrome
Long philtrum, Micrognathia, Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodo... ORPHA:444072
Enamel-Renal Syndrome
Amelogenesis imperfecta, Nephrocalcinosis, Delayed eruption of teeth, Enuresis, Yellow-brown disc... ORPHA:1031
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Joint hyperflexibility, Rickets ORPHA:1901
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Holoprosencephaly 9
Short philtrum, Dental malocclusion, Solitary median maxillary central incisor, Cleft upper lip, ... OMIM:610829
Infantile Systemic Hyalinosis
Joint stiffness, Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Accessory oral frenulum, Horseshoe kidney, Patent ductus arteriosus, Hypodontia, Supernumerary tooth OMIM:617088
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Delayed eruption of permanent teeth, Mandibular prognathia, Facial hyperos... OMIM:218400
Oculodentodigital Dysplasia
Broad alveolar ridges, Premature loss of primary teeth, Non-midline cleft lip, Carious teeth, Mic... ORPHA:2710
Dysostosis, Stanescu Type