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Congenital hypoplasia of clavicle

Known as: CLAVICULAR HYPOPLASIA, Short clavicles, Hypoplasia of clavicle 
Reduced length of the clavicles. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

12 relations
BENT BONE DYSPLASIA SYNDROMECDAGS SYNDROMECleidocranial DysplasiaMANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis… Expand
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2015
2015
Cbfb regulates bone development by stabilizing Runx family proteins.
Runx family proteins, Runx1, Runx2, and Runx3, play important roles in skeletal development. Runx2 is required for osteoblast… Expand
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2013
2013
RUNX2 mutations in cleidocranial dysplasia.
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation… Expand
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2010
2010
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
CONTEXT Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B… Expand
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2007
2007
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
CONTEXT Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial… Expand
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2005
2005
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2… Expand
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2003
2003
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the… Expand
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Highly Cited
2003
Highly Cited
2003
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular… Expand
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Highly Cited
2002
Highly Cited
2002
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular… Expand
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1987
1987
Animal model: skeletal anomalies in mice with cleidocranial dysplasia.
Cleidocranial dysplasia in mice, a radiation-induced skeletal mutation, showed striking homology with cleidocranial dysplasia in… Expand
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