Eiken syndrome
Findings
No curated finding names Eiken syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
Definition from the Mondo Disease Ontology (MONDO:0010803), read 2026-09-29. CC BY 4.0.
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad femoral neckHPOHP:0006429
- 1 of 1 reported patient
- Broad metatarsalHPOHP:0001783
- 1 of 1 reported patient
- Broad ribsHPOHP:0000885
- 1 of 1 reported patient
- Chiari malformationHPOHP:0002308
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Decreased circulating vitamin D concentrationHPOHP:0100512
- 1 of 1 reported patient
- Delayed ossification of carpal bonesHPOHP:0001216
- 1 of 1 reported patient
- Delayed tarsal ossificationHPOHP:0008103
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 2 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Eruption failureHPOHP:0000706
- 1 of 1 reported patient
Show the remaining 45
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 1 reported patient
- Flat acetabular roofHPOHP:0003180
- 1 of 1 reported patient
- Flattened epiphysisHPOHP:0003071
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Long halluxHPOHP:0001847
- 1 of 1 reported patient
- Long thumbHPOHP:0032524
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTH1RHGNC:9608
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of