MCID: CRT079
MIFTS: 17

Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

MalaCards integrated aliases for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:

Name: Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 57
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia 58
Cortical Defects Wormian Bones and Dentinogenesis Imperfecta 19
Suarez-Stickler Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia: Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 604922
ICD10 via Orphanet 32 Q78.8
UMLS via Orphanet 72 C1858032
Orphanet 58 ORPHA166277
MedGen 40 C1858032

Summaries for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

GARD: 19 Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.

MalaCards based summary: Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta, is also known as wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia. Affiliated tissues include bone, and related phenotypes are dentinogenesis imperfecta and concave nasal ridge

Orphanet: 58 A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.

More information from OMIM: 604922

Related Diseases for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Symptoms & Phenotypes for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Human phenotypes related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dentinogenesis imperfecta 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000703
2 concave nasal ridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011120
3 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
4 abnormal cortical bone morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0003103
5 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
6 dolichocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000268
7 wormian bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0002645
8 pathologic fracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002756
9 upper limb undergrowth 58 30 Frequent (33%) Frequent (79-30%)
HP:0009824
10 periorbital fullness 58 30 Frequent (33%) Frequent (79-30%)
HP:0000629
11 limitation of joint mobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001376
12 toe clinodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001863
13 short foot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001773
14 carious teeth 30 HP:0000670
15 hyperostosis 30 HP:0100774
16 asymmetry of the thorax 30 HP:0001555
17 thin ribs 30 HP:0000883
18 increased susceptibility to fractures 30 HP:0002659
19 delayed closure of the anterior fontanelle 30 HP:0001476
20 limited elbow extension 30 HP:0001377
21 clinodactyly of the 4th toe 30 HP:0011918
22 clinodactyly of the 3rd toe 30 HP:0008115
23 epiphyseal streaking 30 HP:0004990

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
periorbital fullness

Skeletal Skull:
wormian bones

Skeletal Limbs:
epiphyseal streaking
restricted elbow extension
wave-like defects of tibial corticalis (alternating hyperostosis and thinning)

Chest External Features:
asymmetric chest

Growth Height:
short stature (3rd percentile)

Laboratory Abnormalities:
normal collagen type i studies

Head And Neck Head:
dolichocephaly
delayed closure of anterior fontanel

Head And Neck Teeth:
dentinogenesis imperfecta
dental caries

Chest Ribs Sternum Clavicles And Scapulae:
slender ribs

Skeletal:
bone fragility

Skeletal Feet:
3rd-4th toe clinodactyly

Clinical features from OMIM®:

604922 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Search Clinical Trials, NIH Clinical Center for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Genetic Tests for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Anatomical Context for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Organs/tissues related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:

MalaCards : Bone

Publications for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Articles related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:

# Title Authors PMID Year
1
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? 57
10544232 1999

Variations for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Expression for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta.

Pathways for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

GO Terms for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Sources for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....