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The Hedgehog signaling pathway plays a fundamental role in normal craniofacial development in humans. Mutations in the sonic hedgehog (SHH) signaling gene <jats:italic>CDON<\/jats:italic> have been recently reported in patients with holoprosencephaly and with pituitary stalk interruption syndrome (PSIS). This study\u2019s aim was an elucidation of an 18-year-old patient presenting PSIS, multiple pituitary hormone deficiency, and congenital unilateral facial and abducens nerve palsy. Additionally, bilateral sensorineural hearing loss, dominating at the right site, was diagnosed. From the second year of life, growth deceleration was observed, and from the age of eight, anterior pituitary hormone deficiencies were gradually confirmed and substituted. At the MRI, characteristic triad for PSIS (anterior pituitary hypoplasia, interrupted pituitary stalk and ectopic posterior lobe) was diagnosed. We performed a comprehensive genomic screening, including microarrays for structural rearrangements and whole-exome sequencing for a monogenic defect. A novel heterozygous missense variant in the <jats:italic>CDON<\/jats:italic> gene (c.1814G\u2009&gt;\u2009T; p.Gly605Val) was identified. The variant was inherited from the mother, who, besides short stature, did not show any disease symptoms. The variant was absent in control databases and 100 healthy subjects originating from the same population. We report a novel variant in the <jats:italic>CDON<\/jats:italic> gene associated with PSIS and congenital cranial nerve palsy. The variant revealed autosomal dominant inheritance with incomplete penetrance in concordance with previous studies reporting <jats:italic>CDON<\/jats:italic> defects.<\/jats:p>","DOI":"10.1007\/s13353-021-00649-w","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T01:02:27Z","timestamp":1625706147000},"page":"621-629","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy"],"prefix":"10.1007","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9142-134X","authenticated-orcid":false,"given":"Monika","family":"Obara-Moszy\u0144ska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2860-395X","authenticated-orcid":false,"given":"Bart\u0142omiej","family":"Budny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2116-4384","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Ka\u0142u\u017cna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9542-6837","authenticated-orcid":false,"given":"Katarzyna","family":"Zawadzka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4058-3901","authenticated-orcid":false,"given":"Aleksander","family":"Jamsheer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Rohde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6296-7220","authenticated-orcid":false,"given":"Marek","family":"Rucha\u0142a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5377-8834","authenticated-orcid":false,"given":"Katarzyna","family":"Ziemnicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8862-6937","authenticated-orcid":false,"given":"Marek","family":"Niedziela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"649_CR1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. 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