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BBDS1
MCID: BNT007
MIFTS: 34
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Bent Bone Dysplasia Syndrome 1 (BBDS1)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Bent Bone Dysplasia Syndrome 1:
Name: Bent Bone Dysplasia Syndrome 1
57
Characteristics:Inheritance:
Bent Bone Dysplasia Syndrome 1:
Autosomal dominant 57
Fgfr2-Related Bent Bone Dysplasia:
Autosomal dominant 58
Prevelance:
Fgfr2-Related Bent Bone Dysplasia:
<1/1000000 (Worldwide) 58
Age Of Onset:
Fgfr2-Related Bent Bone Dysplasia:
Antenatal,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases Oral diseases
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated. MalaCards based summary: Bent Bone Dysplasia Syndrome 1, also known as bent bone dysplasia syndrome, is related to bent bone dysplasia syndrome 2 and craniosynostosis. An important gene associated with Bent Bone Dysplasia Syndrome 1 is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, breast and brain, and related phenotypes are osteopenia and gingival overgrowth GARD: 19 Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with genetic changes in the FGFR2 gene. UniProtKB/Swiss-Prot: 73 A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. OMIM®: 57 Bent bone dysplasia syndrome-1 (BBDS1) is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones (Merrill et al., 2012). (614592) (Updated 08-Dec-2022) |
Diseases in the Bent Bone Dysplasia Syndrome 1 family:
Diseases related to Bent Bone Dysplasia Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome 1:
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Human phenotypes related to Bent Bone Dysplasia Syndrome 1:58 30 (show all 31)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614592 (Updated 08-Dec-2022) |
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Organs/tissues related to Bent Bone Dysplasia Syndrome 1:
MalaCards :
Bone,
Breast,
Brain,
Heart
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Articles related to Bent Bone Dysplasia Syndrome 1:(show all 49)
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Genes related to Bent Bone Dysplasia Syndrome 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome 1:5 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome 1:73
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Search
GEO
for disease gene expression data for Bent Bone Dysplasia Syndrome 1.
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