Table 1

Summary of clinical features in three individuals heterozygous for KCTD15 missense variants

Family 1, II-1Family 1, III-1Family 2, II-1
Histological classification of frontonasal massMacroscopically lipomaLipomaHamartoma
NoseSmall nasal tip, short columellaNasal tip encroached by lipomaSmall nasal tip, short columella
AnosmiaPresentPresentNormal sense of smell
ScalpThin hair, baldingCutis aplasiaThin, fair hair
Congenital heart diseaseTetralogy of FallotPatent ductus arteriosusNot present
OtherNystagmus, congenital urethral stricture, unilateral renal scarring, dry shiny skin over hands; mild shortening 4th and 5th digits of toesTongue-tie, normal extremitiesConvergent strabismus, unilateral hearing loss, coeliac disease, 2–3 toe syndactyly