IllnessSotos syndrome, differential diagnosis

NGS +

[Sanger]

Sotos syndrome patients show excessive physical growth in the first years of life, they are often larger and heavier at birth with macrocephaly. The disease is often accompanied by delayed motor and social development, with mild cognitive and speech disorders. The three cardinal features (characteristic face, learning disability, overgrowth of body and/or head) can usually be accompanied by ten main symptoms (heart defect, advanced bone age, joint hyperextensibility, etc.) and >30 other associated features. Although most cases of Sotos syndrome are sporadic, familial cases are well known. Virtually all patients with NSD1 mutations are diagnosed with Sotos Syndrome; on the other hand, NSD1 gene mutations are completely penetrating and expressivity is highly variable. Individuals with the same pathogenic variant may be affected differently even within the same family. The Sotos 2 (Malan) syndrome is less common. The diagnostic yield is not known more precisely. Therefore, an inconspicuous genetic finding certainly does not exclude the clinical suspicion, especially since differential diagnosis with (clinically closely) related overgrowth syndromes can be very difficult.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1479/

• Alias: Cerebral gigantism
• Alias: Chromosome 5q35 deletion syndrome
• Alias: Sotos sequence; Sotos' syndrome
• Allelic: Basal cell carcinoma, somatic (PTCH1)
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Basal cell nevus syndrome (SUFU)
• Allelic: Cortical dysplasia, complex, with other brain malformations 10 (APC2)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma (PTEN)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Wilms tumor, somatic (GPC3)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Cohen-Gibson syndrome (EED)
• IMAGE syndrome (CDKN1C)
• Imagawa-Matsumoto syndrome (SUZ12)
• Joubert syndrome 32 (SUFU)
• Keipert syndrome (GPC4)
• Lhermitte-Duclos syndrome (PTEN)
• Macrocephaly/autism syndrome (PTEN)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Sotos syndrome 1 (NSD1)
• Sotos syndrome 2 (NFIX)
• Sotos syndrome 3 (APC2)
• Weaver syndrome (EZH2)