Pseudoepiphyses of the toes

MedGen UID:: 869562
•Concept ID:: C4023990
•: Anatomical Abnormality

HPO:	HP:0010169

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPseudoepiphyses of the toes

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal appendicular skeleton morphology
    - Abnormal long bone morphology
      - Abnormal epiphysis morphology
        Pseudoepiphyses
        Pseudoepiphyses of the toes
        Pseudoepiphyses of the hallux

Recent clinical studies

Diagnosis

A new family with epiphyseal chondrodysplasia type Miura.

Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O
Am J Med Genet A 2021 Jan;185(1):112-118. Epub 2020 Oct 19 doi: 10.1002/ajmg.a.61923. PMID: 33073519

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571

See all (2)

Prognosis

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.

Lauffer P, Miranda-Laferte E, van Duyvenvoorde HA, van Haeringen A, Werner F, Boudin E, Schmidt H, Mueller TD, Kuhn M, van der Kaay DCM
J Clin Endocrinol Metab 2020 Jul 1;105(7):2354-66. doi: 10.1210/clinem/dgaa190. PMID: 32282051 Free PMC Article

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

See all (2)