Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot...

Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the...

syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple congenital anomalies-hypotonia-seizures syndrome Multiple epiphyseal dysplasia, Al-Gazali...

the neonatal period, whereas diastrophic dysplasia (DTD) and autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) are considered to be the least...

duplication or deletion syndrome in which multiple genes are involved. All forms of MPS are inherited in an autosomal recessive pattern, except fir of MPS II; Hunter...

also cause multiple epiphyseal dysplasia. Despite the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter...

wake of 2003's Human Genome Project, autosomal recessive forms of the disorder have been identified. Recessive forms of OI relate heavily to defects...

tissue of an individual. Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant. Reports have...

syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation...

mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance". Orphanet...

families worldwide have been described in medical literature. It is an autosomal recessive genetic disorder, meaning both parents must carry the gene in order...

spine fusion anomalies Microcephaly chorioretinopathy recessive form Microcephaly cleft palate autosomal dominant Microcephaly deafness syndrome Microcephaly...

as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence...

distantly related. Achondroplasia Achondrogenesis Autosomal recessive multiple epiphyseal dysplasia Osteochondrodysplasia "UniProt". www.uniprot.org....

dysplasia, hydrotic Ectodermal dysplasia, hypohidrotic, autosomal recessive Ectodermal dysplasia Ectodermic dysplasia anhidrotic cleft lip Ectopia cordis...

Langer LO, Cervenka J, Camargo M (March 1989). "A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe...

606369; MAPK10 Epiphyseal dysplasia, multiple 1; 132400; COMP Epiphyseal dysplasia, multiple, 2; 600204; COL9A2 Epiphyseal dysplasia, multiple, 3; 600969;...

congenital onychodystrophy recessive Deafness craniofacial syndrome Deafness enamel hypoplasia nail defects Deafness epiphyseal dysplasia short stature Deafness...

cyanosis, and exercise intolerance. Trapped Neutrophil Syndrome* is an autosomal recessive disease which results in mature neutrophils being unable to migrate...

(2003). "Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips". Am...