U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Midline malformations, multiple, with limb abnormalities and hypopituitarism

MedGen UID:
371431
•Concept ID:
C1832874
•
Disease or Syndrome
Synonyms: Dincsoy Salih Patel syndrome; Dincsoy syndrome
 
Monarch Initiative: MONDO:0010980
OMIM®: 601016
Orphanet: ORPHA1678

Recent clinical studies

Diagnosis

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN
J Clin Res Pediatr Endocrinol 2020 Sep 2;12(3):319-328. Epub 2019 Nov 29 doi: 10.4274/jcrpe.galenos.2019.2019.0142. PMID: 31782289Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...