desmosterolosis

Epidemiology

• rare

Genetics

• autosomal recessive disorder

Clinical manifestations

• multiple congenital anomalies, lethal
• macrocephaly
• hypoplastic nasal bridge
• thick alveolar ridges
• gingival nodules
• cleft palate
• total anomalous pulmonary venous drainage
• ambiguous genitalia
• short limbs,
• generalized osteosclerosis

Laboratory

• elevated levels desmosterol in plasma, tissue, & cultured cells
• desmosterol in serum/plasma

More general terms

• genetic syndrome (multisystem disorder)
• metabolic disease

Additional terms

• delta(24)-sterol reductase; 24-dehydrocholesterol reductase; 3-beta-hydroxysterol delta-24-reductase; diminuto/dwarf1 homolog; seladin-1 (DHCR24. KIAA0018)
• desmosterol (24-dehydrocholesterol)

Database

• OMIM: https://mirror.omim.org/entry/602398