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MCID: CRT079
MIFTS: 17
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Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Categories:
Bone diseases, Fetal diseases, Oral diseases, Rare diseases
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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
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:
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases |
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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
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Human phenotypes related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:58 30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:604922 (Updated 08-Dec-2022) |
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Organs/tissues related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:
MalaCards :
Bone
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Articles related to Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta:
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Search
GEO
for disease gene expression data for Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta.
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