Eiken
syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...
, also known as "Eiken skeletal dysplasia", is a rare
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...
bone
dysplasia
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs ( macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopi ...
with a skeletal
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological pr ...
which has been described in a unique
consanguineous
Consanguinity ("blood relation", from Latin '' consanguinitas'') is the characteristic of having a kinship with another person (being descended from a common ancestor).
Many jurisdictions have laws prohibiting people who are related by blood fro ...
family, where it segregates as a recessive
trait. First described in 1985, the syndrome primarily affects the development of bones, leading to short stature, long limbs, and joint dislocations. Eiken syndrome is caused by mutations in the ''
PTH1R
Parathyroid hormone/parathyroid hormone-related peptide receptor, also known as parathyroid hormone 1 receptor (PTH1R), is a protein that in humans is encoded by the ''PTH1R'' gene. PTH1R functions as a receptor for parathyroid hormone ( PTH) and f ...
'' gene, located on chromosome 3, and is involved in skeletal development.
Signs and symptoms
Delayed
ossification
Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts. It is synonymous with bone tissue formation. There are two processes resulting in ...
characterizes the Eiken syndrome.
Individuals with the syndrome may exhibit various orthopedic issues, including abnormal modeling of the bones in the hands and feet, joint hypermobility, abnormal persistence of cartilage in the pelvis, and mild growth retardation.
Diagnosis
Diagnosis often includes clinical evaluation, radiographic imaging, and genetic testing to identify mutations that may be responsible for the syndrome. The disorder typically becomes evident in infancy or early childhood, and its clinical features may vary among affected individuals. The syndrome is very rare, with the seventh patient reported in 2019.
References
Further reading
*
* Eiken M, Prag J, Petersen K, Kaufmann H: - A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr 1984, 141:231-235.
External links
Rare syndromes
{{Genetic-disorder-stub}