Syndromic disorder with short stature

Definition:

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown pathologies. Several underlying genetic causes of these disorders have been identified.

References:

[1]. Angel Ashikov, et al. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. [Content Brief]

[2]. David A Parry, et al. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. Am J Hum Genet. 2013 Dec 5;93(6):1135-42. [Content Brief]

[3]. K D Kernohan, et al. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. Clin Genet. 2017 May;91(5):708-716. [Content Brief]

[4]. Kosuke Izumi, et al. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am J Hum Genet. 2016 Aug 4;99(2):451-9. [Content Brief]

[5]. Magalie S Leduc, et al. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 Aug;170(8):2206-11. [Content Brief]

[6]. Marios Kambouris, et al. Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet J Rare Dis. 2014 Jun 7;9:80. [Content Brief]

[7]. Nadezda Maksimova, et al. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet. 2010 Aug;47(8):538-48. [Content Brief]

[8]. Paulien A Terhal, et al. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. Eur J Hum Genet. 2020 Jan;28(1):31-39. [Content Brief]

[9]. Ranad Shaheen, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012 Aug 10;91(2):330-6. [Content Brief]

[10]. Tiong Yang Tan, et al. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 7;101(6):985-994. [Content Brief]

[11]. Yuh-Charn Lin, et al. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet. 2021 Jan 7;108(1):115-133. [Content Brief]

[12]. Zeynep Şıklar, et al. Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol. 2014;6(1):1-8. [Content Brief]

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