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.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3304703014
Schmitt Gillenwater Kelly syndrome
Active
Synonym
false
false
3311179011
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome