Beaulieu-Boycott-Innes Syndrome (BBIS) is a rare condition that has been found in several populations.

Location: 16p13.3

Gene: THOC6 (THO complex 6), a subunit of the THO complex

Mutation: missense, other


Inheritance: autosomal recessive


Clinical features:

(1) severe intellectual disability

(2) renal anomalies

(3) dental caries, dental malocclusion

(4) cyclical vomiting

(5) variable cardiac malformations

(6) low birth weight

(7) growth failure with short stature

(8) delayed language

(9) variable skeletal anomalies

(10) microcephalus


Dysmorphic facies:

(1) tall forehead

(2) high anterior hairline

(3) deep-set eyes

(4) upslanting palpebral fissures

(5) variable cleft palate

(6) flat philtrum

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