Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)
Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS)
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (SIMHA)
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)
Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)
Short stature, facial dysmorphism, and skeletal anomalies with cardiac anomalies (SSFSC)

Siklar Z, Berberoglu M

Syndromic disorders with short stature.

J Clin Res Pediatr Endocrinol 6:1-8 (2014)
DOI:10.4274/Jcrpe.1149

Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA

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 93:1135-42 (2013)
DOI:10.1016/j.ajhg.2013.10.027

Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S, Boycott KM, Chitayat D

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Clin Genet 91:708-716 (2017)
DOI:10.1111/cge.12884

Kambouris M, Maroun RC, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R, Boulos H, Curmi PA, El-Shanti H

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.

Orphanet J Rare Dis 9:80 (2014)
DOI:10.1186/1750-1172-9-80

Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Am J Hum Genet 91:330-6 (2012)
DOI:10.1016/j.ajhg.2012.05.025

Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Creton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.

Eur J Hum Genet 28:31-39 (2020)
DOI:10.1038/s41431-019-0427-0

Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.

J Med Genet 47:538-48 (2010)
DOI:10.1136/jmg.2009.074815

Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 99:451-9 (2016)
DOI:10.1016/j.ajhg.2016.06.011

Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Hum Mol Genet 27:3029-3045 (2018)
DOI:10.1093/hmg/ddy213

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Am J Hum Genet 101:985-994 (2017)
DOI:10.1016/j.ajhg.2017.10.006

Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Gruning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Isik E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

Am J Hum Genet 108:115-133 (2021)
DOI:10.1016/j.ajhg.2020.11.015