| SMITH-LEMLI-OPITZ SYNDROME (SLOS) | |
| SLOS | |
|
270400
OMIM = Online Mendelian Inheritance of Men | |
|
818 | |
| 7-dehydrocholesterol reductase | |
| 1.3.1.21 | |
| rare (1:10000 - 1:60000) autosomal recessive type I : milder form type II: more severe form | |
| Laboratory findings | 17-Ketosteroids inc (plasma) 3-Methylglutaconic acid normal/inc (urine) 7-Dehydrocholesterol inc (plasma) 7-Dehydrocholesterol inc (urine) 7-Dehydrocholesterol reductase dec (liver) 8-Dehydrocholesterol inc (plasma) Cholesterol n/d (plasma) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | hypotonia syndactyly anteverted nostril behavior, aggressive broad chin or mandible cardiac involvement, cardiac defects cataract cerebellar atrophy or hypoplasia cleft palate clubfoot corpus callosum, agenesis/hypoplasia cryptorchism developmental delay epicanthus or medial eyelid fold excess digital whorls feeding difficulties, poor feeding genitalia, ambigous growth retardation, poor growth hearing defect, deafness irritability microcephaly (<2 SD for age) behavior, self-mutilating or destructive broad forehead (wide) broad nasal bridge cholestasis congenital heart defect constipation dysmorphism failure to thrive hemangioma hydrocephalus hydronephrosis hypospadia hypotonia limb abnormalities, limb deformities liver involvement or dysfunction low set ears mental retardation myelination, incomplete, hypomyelination onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area polydactyly ptosis (drooping eyelid) pulmonary hypoplasia pyloric stenosis renal cysts rhizomelia sacral dimple seizures short neck short nose short stature skin rash, eczematous or seborrhoic small chin or micrognathia strabismus urinary tract defects ventricular septal defect vomiting |