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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 all Hide all

Abnormality of head or neck
- Diastema
Abnormality of limbs
- Hypoplasia of the radius
- Triphalangeal thumb, Nonopposable
Abnormality of the genitourinary system
- Hypospadias

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRadial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Radial 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

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Molecular resources

Coriell Institute for Medical Research

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