Smith–Lemli–Opitz syndrome

Also known as: 7-dehydrocholesterol reductase deficiency; SLOS

Cholesterol synthesis defect with malformations and developmental delay.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Metabolic disorders
Sex & age distribution: Male: affected, 46,XY undervirilization; Female: affected equally; Children: yes, birth
Gene(s) involved: DHCR7

Etiology & mechanism

DHCR7 deficiency lowers cholesterol.

Gene(s) involved (1)

DHCR7

Symptoms & signs (9)

cleft palatefailure to thrivefeeding problemsgenital anomalieshypospadiasintellectual disabilitymicrocephalyptosissyndactyly of toes 2–3

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