Macroscopical synopsis

 systemic anomalies

• failure to thrive (early infancy)
• mild-to-moderate growth deficiency
• polyhydramnios
• hydrops

 craniofacial anomalies

• flat facies
• hypoplasia of malar eminences
• frontal bossing
• dysplastic ears
• hearing loss
• short neck

 ocular anomalies

• down-slanting palpebral fissures
• cataract
• nystagmus
• microphthalmia
• glaucoma

 visceral anomalies

• tracheal calcifications
• tracheal stenosis
• hydronephrosis

 trunk anomalies

• punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula
• scoliosis
• hemivertebrae
• vertebral calcifications
• calcific deposits of ischium and pubis

 limb anomalies

• asymmetric limb shortening
• epiphyseal stippling
• dislocation of patella
• punctate calcifications of carpals
• bilateral club feet
• punctate calcifications of tarsals

 cutaneous anomalies

• congenital ichthyosiform erythroderma
• follicular atrophoderma
• 'orange peel' skin (large pores)
• ichthyosis
• coarse, sparse hair
• patchy areas of alopecia
• sparse eyebrows
• sparse eyelashes

 cerebrospinal anomalies

• Dandy-Walker malformation
• ventriculomegaly

Biochemical anomalies

 elevated 8(9)-cholestenol
 elevated 8-dehydrocholesterol

Etiology

 mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP) (MIM.300205)