Eiken syndrome

A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(32.7%)		 25007883
 A new acro-osteolysis syndrome caused by duplications including PTHLH.
Gray MJ, van Kogelenberg M, Beddow R, Morgan T, Wordsworth P, Shears DJ, Robertson SP, Hurst JA.
J Hum Genet. 2014;59(9):484-7.
Skeletal dysplasia Metaphyseal chondrodysplasia
PTH PTH1R PTHLH
Acro-Osteolysis DNA Copy Number Variations Females Gene Duplication Hajdu-Cheney Syndrome Homo sapiens Male Mutation Syndrome
2
(21.2%)		 15525660
 Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.
Hum Mol Genet. 2005;14(1):1-5.
Skeletal dysplasia
PTH PTH1R PTHLH
rs121434603
Amino Acid Sequence Bone Diseases, Developmental Enchondromatosis Females Genes, Recessive Hereditary Multiple Exostoses Homo sapiens Male Parathyroid Hormone Receptor Sequence Deletion
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0006376 Limited elbow flexion Very frequent (99-80%)
HP:0001169 Broad palm Frequent (79-30%)
HP:0001211 Abnormal fingertip morphology Frequent (79-30%)
HP:0001769 Broad foot Frequent (79-30%)
HP:0001773 Short foot Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0002663 Delayed epiphyseal ossification Frequent (79-30%)
HP:0002753 Thin bony cortex Frequent (79-30%)
HP:0002967 Cubitus valgus Frequent (79-30%)
HP:0003025 Metaphyseal irregularity Frequent (79-30%)
HP:0003038 Fibular hypoplasia Frequent (79-30%)
HP:0003170 Abnormality of the acetabulum Frequent (79-30%)
HP:0003275 Narrow pelvis bone Frequent (79-30%)
HP:0004279 Short palm Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0008800 Limited hip movement Frequent (79-30%)
HP:0008808 High iliac wings Frequent (79-30%)
HP:0009803 Short phalanx of finger Frequent (79-30%)
HP:0010305 Absence of the sacrum Frequent (79-30%)
HP:0011849 Abnormal bone ossification Frequent (79-30%)
HP:0100671 Abnormal trabecular bone morphology Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 2
HP:0005871 Metaphyseal chondrodysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PTH1R parathyroid hormone 1 receptor 5745