Gamuts

Pallister-Killian syndrome

Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister–Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. [Source: Wikipedia ]

May Cause
Absent nose
Alopecia
Deafness
Delayed tooth eruption
Depressed nasal bridge
Diaphragmatic hernia
External ear malformation
Eyelid ptosis
Gigantism
Hydrops fetalis
Hypertelorism
Increased nuchal fold
Joint laxity
Joint subluxation
Micrognathia
Nuchal cystic hygroma
Sacrococcygeal appendage
Small nose
Strabismus
May Cause
Absent nose
Alopecia
Deafness
Delayed tooth eruption
Depressed nasal bridge
Diaphragmatic hernia
External ear malformation
Eyelid ptosis
Gigantism
Hydrops fetalis
Hypertelorism
Increased nuchal fold
Joint laxity
Joint subluxation
Micrognathia
Nuchal cystic hygroma
Sacrococcygeal appendage
Small nose
Strabismus


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