U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

MedGen UID:
357271
•Concept ID:
C1867397
•
Disease or Syndrome
Synonyms: Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema; Radial hypoplasia, triphalangeal thumbs and hypospadias; Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema; Schmitt-Gillenwater-Kelly syndrome
SNOMED CT: Schmitt Gillenwater Kelly syndrome (716092007); Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (716092007)
 
Monarch Initiative: MONDO:0008357
OMIM®: 179250
Orphanet: ORPHA2252

Definition

This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Clinical features

From HPO
Hypospadias
MedGen UID:
163083
•Concept ID:
C0848558
•
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
See: Feature record | Search on this feature
Hypoplasia of the radius
MedGen UID:
672334
•Concept ID:
C0685381
•
Congenital Abnormality
Underdevelopment of the radius.
See: Feature record | Search on this feature
Triphalangeal thumb, Nonopposable
MedGen UID:
444008
•Concept ID:
C2931238
•
Congenital Abnormality
A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.
See: Feature record | Search on this feature
Diastema
MedGen UID:
3800
•Concept ID:
C0011998
•
Finding
Increased space between two adjacent teeth in the same dental arch.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRadial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Follow this link to review classifications for Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome in Orphanet.

Recent clinical studies

Diagnosis

Bicuspid aortic valve in association with Schmitt Gillenwater Kelly syndrome.
Choudhary R, Bagarhatta R
J Pediatr 2014 Aug;165(2):413-413.e1. Epub 2014 Apr 27 doi: 10.1016/j.jpeds.2014.03.045. PMID: 24787539

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

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