IFAP (ichthyosis follicularis with atrichia and photophobia)/BRESEK (brain anomalies, intellectual disability, ED, skeletal deformities, ear or eye anomalies, and kidney dysplasia/hypoplasia) syndrome and cartilage–hair hypoplasia (CHH) are such examples where besides other clinical features, congenital hypotrichosis and HD association have been observed [11, 12]. Here, MBTPS2 is linked to Huntington disease.