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To refine the phenotypic spectrum of SOFT syndrome, recently shown to include metabolic features, we conducted a systematic review of all published cases (19 studies, including 42 patients). The SOFT tetrad affected only 24 patients (57%), while all cases presented with short stature from birth (median height: -5.5SDS([-8.5]-[-2.8])\/adult height: 132.5\u00a0cm(103.5\u2013148)), which was most often disproportionate (90.5%), with relative macrocephaly. Bone involvement resulted in short hands and feet (100%), brachydactyly (92.5%), metaphyseal (92%) or epiphyseal (84%) anomalies, and\/or sacrum\/pelvis hypoplasia (58%). Serum IGF-I was increased (median IGF-I level:\u2009+\u20092 SDS ([-0.5]-[+\u20093])). Recombinant human growth hormone (rhGH) therapy was stopped for absence\/poor growth response (7\/9 patients, 78%) and\/or hyperglycemia (4\/9 patients, 45%). Among 11 patients evaluated, 10 (91%) presented with central distribution of fat (73%), clinical (64%) and\/or biological insulin resistance (IR) (100%, median HOMA-IR: 18), dyslipidemia (80%), and hepatic steatosis (100%). Glucose tolerance abnormalities affected 58% of patients aged over 10\u00a0years<jats:italic>.<\/jats:italic> Patients harbored biallelic missense (52.4%) or truncating (45.2%) <jats:italic>POC1A<\/jats:italic> variants. Biallelic null variants, affecting 36% of patients, were less frequently associated with the SOFT tetrad (33% vs 70% respectively, p\u2009=\u20090.027) as compared to other variants, without difference in the prevalence of metabolic abnormalities. <jats:italic>POC1A<\/jats:italic> should be sequenced in children with short stature, altered glucose\/insulin homeostasis and\/or centripetal fat distribution. In patients with SOFT syndrome, rhGH treatment is not indicated, and IR-related complications should be regularly screened and monitored.<\/jats:p><jats:p><jats:bold>PROSPERO registration:<\/jats:bold> CRD42023460876.<\/jats:p>","DOI":"10.1007\/s11154-024-09894-w","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T09:01:55Z","timestamp":1721206915000},"page":"827-838","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome"],"prefix":"10.1007","volume":"25","author":[{"given":"Kevin","family":"Perge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Capel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Sen\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Julier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Nicolino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,17]]},"reference":[{"key":"9894_CR1","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.ejmg.2012.02.011","volume":"55","author":"SA Shalev","year":"2012","unstructured":"Shalev SA, Spiegel R, Borochowitz ZU. 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