Verheij Syndrome with normal intelligence after a 10-year diagnostic odyssey

We present a 10-year old girl with a congenital syndromic disease with primary short stature and microcephaly (height 1st percentile, z -2.2, head circumference <1st percentile, z -3.4), prelingual combined moderate hearing impairment, motor delay (free walking with 20 months) but without speech delay and normal intelligence (average IQ 109 points). At the age of 9 years dyslexia and mild attention deficit problems were diagnosed.
Physical examination showed facial dysmorphism (long palpebral fissures, long eye lashes, low hanging columella, long philtrum, high and narrow palate with dental crowding), short neck, mild pectus excavatum, small hands and camptodactyly of the 5th fingers with a flexion contracture on the left side.
Family history is unremarkable except for dyslexia in both parents and microcephaly (1st percentile, z -2.5) in the mother.
Shortly after birth the diagnostic odyssey began including different genetic testing (karyotyping, microarray, gene panel analyses for Noonan syndrome and hearing impairment) and only revealed a maternally inherited heterozygous likely pathogenic variant in the MYO7A gene as a predisposition for postlingual deafness (OMIM 601317) and a carrier status for Deafness, autosomal recessive 2 (OMIM 600060).
Finally, after 10 years a molecular diagnosis of Verheij syndrome caused by a de novo PUF60 variant could be made via trio exome sequencing. The high correlation of the facial phenotype regarding to the GestaltMatcher analysis helped to classify the variant as likely pathogenic.