Table 2.

Select Features of Tatton-Brown-Rahman Syndrome

Feature% of Persons w/FeatureComment
Intellectual disability100%Most often in mild-to-moderate range
Overgrowth 1>80%
  • Tall stature (height ≥2 SD above mean) in ~70%
  • Macrocephaly (head circumference ≥2 SD above mean) in ~50%
Joint hypermobility~75%
Overweight 2~65%
Hypotonia~55%
Behavioral/psychiatric issues~50%Most commonly autism spectrum disorder
Kyphoscoliosis~30%
Seizures~20%
Cryptorchidism~20% of males
Cardiovascular disease~10%Most commonly congenital heart disease, although aortic root dilatation also observed
Ventriculomegaly<10%
Chiari malformation<10%
Malignant tumors~5%Most commonly acute myeloid leukemia 3

SD = standard deviation(s)

1.

Defined as length/height and/or head circumference ≥2 SD above the mean for age and sex

2.

Defined as weight ≥2 SD above the mean for age and sex

3.

This figure is an estimate based on cases reported to date; the precise risk remains unknown.

From: Tatton-Brown-Rahman Syndrome

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