X-linked syndrome due to mutations in the arylsulfatase E gene (ARSE) (MIM.300180)

Macroscopical synopsis

 short stature
 microcephaly
 cataracts
 nasal hypoplasia
 depressed nasal bridge
 short nasal septum
 hypogonadism (in contiguous gene syndrome patients)
 paravertebral stippling
 epiphyseal stippling
 distal phalangeal hypoplasia
 ichthyosis (in contiguous gene syndrome patients)
 developmental delay
 anosmia (in contiguous gene syndrome patients)

Etiology

 mutations in the arylsulfatase E gene (ARSE) (MIM.300180)
 possible contiguous gene syndrome due to loss of adjacent genes STS (MIM.308100) and KAL1 (MIM.308700) on Xp22.3 via deletions and translocations