Floating-Harbor syndrome

Also known as: Pelletier–Leisti syndrome

Short stature with delayed bone age and speech delay.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SRCAP

Etiology & mechanism

SRCAP variants.

Gene(s) involved (1)

SRCAP

Symptoms & signs (6)

delayed bone agedelayed speechlong eyelasheslow hairlineshort staturetriangular face

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.