The KPG syndrome is named based on the initials of the first three patients originally reported by Hermann et al. Diagnosis of the syndrome often depends on recognition of cranial and facial features.


Craniofacial features may include:

(1) prominent or high nasal bridge

(2) thin vermilion border to the upper lip

(3) long upper lip

(4) anteverted nostrils

(5) brachycephaly or turricephaly (oxycephaly = pointed head)

(6) telecanthus and/or hypertelorism

(7) wide eyebrows

(8) prominent and/or anteverted ears

(9) mild synophrys (eyebrows growing together)

(10) epicanthal folds

(11) ptosis

(12) facial asymmetry

(13) macrodontia of maxillary central incisors with or without oligodontia

(14) abnormal hair implantation (coarse with low frontal and/or posterior hairline)

(15) palatal defects

(16) strabismus

(17) hearing loss

(18) short and/or webbed neck


Differential diagnosis:

(1) fetal alcohol syndrome (philtrum smooth)


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