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desmosterolosis
Epidemiology:
- rare
Genetics:
- autosomal recessive disorder
Clinical manifestations:
1) multiple congenital anomalies, lethal
2) macrocephaly
3) hypoplastic nasal bridge
4) thick alveolar ridges
5) gingival nodules
6) cleft palate
7) total anomalous pulmonary venous drainage
8) ambiguous genitalia
9) short limbs,
10) generalized osteosclerosis
Laboratory:
- elevated levels desmosterol in plasma, tissue, & cultured cells
- desmosterol in serum/plasma
Related
delta(24)-sterol reductase; 24-dehydrocholesterol reductase; 3-beta-hydroxysterol delta-24-reductase; diminuto/dwarf1 homolog; seladin-1 (DHCR24. KIAA0018)
desmosterol (24-dehydrocholesterol)
General
genetic syndrome (multisystem disorder)
metabolic disease
Database Correlations
OMIM 602398
References
OMIM :accession 602398