Gamuts

Smith-Lemli-Opitz syndrome

Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. [Source: Wikipedia ]

OrphaNet reference
Smith-Lemli-Opitz syndrome 
Subtypes
Smith-Lemli-Opitz syndrome type 1
Smith-Lemli-Opitz syndrome type 2
May Cause
Abnormal lacrimal system
Absent nose
Ambiguous genitalia
Blepharophimosis
Brachydactyly
Bulbous nose
Cataract
Cleft lip/palate
Clubfoot
Congenital foot deformity
Congenital heart disease
Congenital hydrocephalus
Congenital short hands and feet
Cryptorchidism
External ear malformation
Eyelid ptosis
Genital anomaly
Hydrocephalus
Hydrops fetalis
Hypoplastic thumb
Hypospadias
Hypospadias or ambiguous external genitalia
Irregular epiphyseal ossification centers
Low-set ears
Mesomelic limb shortness
Metatarsus adductus
Microcephaly
Micrognathia
Micropenis
Multiple abnormal epiphyses
Multiple sclerotic foci in an infant or child
Neuronal migration disorder
Nipple anomaly
Patent ductus arteriosus
Polydactyly
Postaxial polydactyly
Pseudohermaphroditism
Renal cystic disease
Short foot
Short hand
Skin dimple
Skin photosensitivity
Small nose
Stippled epiphyses
Strabismus
Syndactyly
Ventricular septal defect

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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