Endocrinology · Endocrinology / Metabolic disorders
Smith–Lemli–Opitz syndrome
also: 7-dehydrocholesterol reductase deficiency; SLOS
Cholesterol synthesis defect with malformations and developmental delay.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Metabolic disorders
- Sex & age distribution
- Male: affected, 46,XY undervirilization; Female: affected equally; Children: yes, birth
- Gene(s) involved
- DHCR7
- Alternative names & eponyms
- 7-dehydrocholesterol reductase deficiency; SLOS
Etiology & mechanism
DHCR7 deficiency lowers cholesterol.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Smith–Lemli–Opitz syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Rubinstein–Taybi syndrome
feeding problems, intellectual disability, microcephaly
2 shared
Apert syndrome
cleft palate, intellectual disability
2 shared
Cardiofaciocutaneous syndrome
feeding problems, intellectual disability
2 shared
Cohen syndrome
intellectual disability, microcephaly
2 shared
Cri du chat syndrome
intellectual disability, microcephaly
2 shared
Emanuel syndrome
cleft palate, microcephaly
2 shared
Fetal alcohol syndrome
intellectual disability, microcephaly
2 shared
Kleefstra syndrome
intellectual disability, microcephaly
2 shared
Lymphedema–distichiasis syndrome
cleft palate, ptosis
2 shared
Marshall–Smith syndrome
failure to thrive, intellectual disability
Shares genes with
None.
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