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RHFCA
MCID: RDH004
MIFTS: 19
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Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies (RHFCA)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:Characteristics:Inheritance:
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome:
Autosomal recessive 58
Prevelance:
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. MalaCards based summary: Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies, is also known as lethal occipital encephalocele-skeletal dysplasia syndrome. An important gene associated with Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies is CYP26B1 (Cytochrome P450 Family 26 Subfamily B Member 1). Affiliated tissues include bone, and related phenotypes are brachycephaly and arachnodactyly UniProtKB/Swiss-Prot: 73 A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.
More information from OMIM:
614416
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Human phenotypes related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:30 (showing 6, show less)
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Organs/tissues related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:
MalaCards :
Bone
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Articles related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:(showing 1, show less)
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Genes related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:5 (showing 4, show less)
UniProtKB/Swiss-Prot genetic disease variations for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies.
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