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GTR Home > Tests > Smith-Lemli-Opitz syndrome, 270400, Autosomal recessive; SLOS (Smith-Lemli-Opitz syndrome) (Prenatal) (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Abdominal distention
  • Aggressive behavior
  • Coarctation of aorta
  • Autism
  • Ptosis
  • Breech presentation
  • Hypertrophic cardiomyopathy
  • Constipation
  • Cryptorchidism
  • Dandy-Walker syndrome
  • Patent ductus arteriosus
  • Fetal growth restriction
  • Atrial septal defect
  • Ventricular septal defect
  • Hepatomegaly
  • Hip dislocation
  • Aganglionic megacolon
  • Hydrocephalus
  • Hydronephrosis
  • Hypertelorism
  • Hypertensive disorder
  • Cirrhosis of liver
  • Microglossia
  • Micrognathia
  • Micromelia
  • Hypertonia
  • Hypotonia
  • Nystagmus
  • Precocious puberty
  • Seizure
  • Self-mutilation
  • Splenomegaly
  • Strabismus
  • Dental crowding
  • Ventricular fibrillation
  • Vomiting
  • Arachnoid cyst
  • Holoprosencephaly sequence
  • Cataract
  • Premature birth
  • Hypocholesterolemia
  • Talipes calcaneovalgus
  • Intestinal malrotation
  • Feeding difficulties
  • Decreased fetal movement
  • Low-set ears
  • Hypoalbuminemia
  • Global brain atrophy
  • Pulmonary hypoplasia
  • Unilateral renal agenesis
  • Renal hypoplasia
  • Ambiguous genitalia
  • Bicornuate uterus
  • Septate vagina
  • Bifid scrotum
  • Hypoplasia of the corpus callosum
  • Short stature
  • Hyperactivity
  • Sacral dimple
  • Partial agenesis of the corpus callosum
  • Colpocephaly
  • Posteriorly rotated ears
  • Short thumb
  • Postaxial hand polydactyly
  • 2-3 toe cutaneous syndactyly
  • Hip subluxation
  • Penoscrotal hypospadias
  • Small scrotum
  • Growth delay
  • Ureteropelvic junction obstruction
  • Renal agenesis
  • Global developmental delay
  • Diffuse cerebral atrophy
  • Epicanthus
  • Abnormal lung lobation
  • Congenital hypertrophic pyloric stenosis
  • Cerebellar atrophy
  • Recurrent otitis media
  • Chiari type I malformation
  • Hypospadias
  • Cholestatic liver disease
  • Overlapping toe
  • Hammertoe
  • Hearing impairment
  • Sleep-wake cycle disturbance
  • Short toe
  • Depressed nasal bridge
  • Gastrointestinal dysmotility
  • Poor suck
  • Microretrognathia
  • Narrow forehead
  • Anteverted nares
  • Hypoplasia of the frontal lobes
  • Elevated circulating 7-dehydrocholesterol concentration
  • Severe photosensitivity
  • Wide nasal bridge
  • Broad alveolar ridges
  • Generalized hypotonia
  • Facial capillary hemangioma
  • Duplicated collecting system
  • Epiphyseal stippling
  • Long philtrum
  • Proximal placement of thumb
  • Postaxial foot polydactyly
  • Failure to thrive
  • Hepatic steatosis
  • Cleft palate
  • Intellectual disability
  • Renal cyst
  • Metatarsus adductus
  • Gastroesophageal reflux
  • Bifid uvula
  • Micropenis
  • Microcephaly
  • 2-3 toe syndactyly
  • Periventricular heterotopia
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Smith-Lemli-Opitz syndrome, 270400, Autosomal recessive; SLOS (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

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