Table 3.

Disorders with Overgrowth and Intellectual Disability in the Differential Diagnosis of Tatton-Brown-Rahman Syndrome

Gene(s)DisorderMOIClinical Characteristics
BRWD3 BRWD3-related OGID (OMIM 300659)XL
  • Macrocephaly
  • Obesity
  • Mild-to-moderate ID
  • Tall chin, prognathism, broad forehead, prominent supraorbital ridge
CHD8 CHD8-related OGID (See CHD8-Related Neurodevelopmental Disorder with Overgrowth.)AD
  • Frontal bossing, downslanted palpebral fissures, high hairline
  • Tall stature
  • Macrocephaly
  • Variable ID
  • Hypotonia
EED Cohen-Gibson syndrome (See EED-Related Overgrowth.)AD
  • Hypertelorism, round face, "stuck-on" chin
  • Tall stature
  • Macrocephaly
  • Scoliosis
  • Ligamentous laxity
  • Hypotonia at birth
EZH2 EZH2-related Weaver syndrome (See EZH2-Related Overgrowth.)AD
  • Broad forehead, widely spaced eyes, almond-shaped palpebral fissures
  • Tall stature
  • Macrocephaly
  • Variable ID (some w/normal intellect)
  • Umbilical hernia
  • Camptodactyly, boutonniere deformity, talipes equinovarus
  • Advanced bone age
FMR1 Fragile X syndrome (See FMR1 Disorders.)XL
  • Macrocephaly
  • ID
  • Prominent jaw & forehead
GPC3
GPC4 		Simpson-Golabi-Behmel syndrome XL
  • Macrocephaly
  • Coarse facial features
  • Macrostomia, macroglossia, palatal abnormalities
  • Polydactyly
  • Supernumerary nipples
  • Diastasis recti
  • Pectus excavatum
NFIX NFIX-related Malan syndrome AD
  • Sotos syndrome-like condition
  • Tall stature
  • Variable ID
  • Ophthalmologic abnormalities are common.
  • Growth frequently normalizes in teenagers & young adults.
NSD1 Sotos syndrome AD
  • Broad/prominent forehead, dolichocephaly, bitemporal narrowing w/sparse frontotemporal hair, downslanted palpebral fissures, malar flushing (in children), long prominent chin
  • Pre- & postnatal overgrowth
  • Variable ID
  • Advanced bone age
  • Scoliosis
  • Joint hypermobility
SUZ12 SUZ12-related OGID (OMIM 618786)AD
  • Tall stature
  • Macrocephaly
  • Scoliosis
  • Joint hypermobility
  • Hypotonia

AD = autosomal dominant; ID = intellectual disability; MOI = mode of inheritance; OGID = overgrowth with intellectual disability; XL = X-linked

From: Tatton-Brown-Rahman Syndrome

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