SHORT sendromu

Kalıtsal - AD

İntrauterin gelişme azlığı

Gelişme geriliği

Alın bombesi yüksek

Gözler çukurda

Rieger anomalisi

Katarakt

Glokom

Arkaya dönük kepçe kulaklar

İşitme sorunları

Üçgen biçiminde yüz (alt bölümü küçük)

Maksilla hipoplazisi (mikrognati)

Mikrognati

Dişlerde sürme aksamaları

Hipodonti

Maloklüzyon

Yerel lipodistrofi bulguları

İnsülin direnci

Zamanla diabetes mellitus

Gözde ön kamera, iris ve kornea anomalileri (Axenfeld-Rieger anomalisi)

Brodsky MC, Whiteside-Michel J, Merin LM. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Archives of Ophthalmology, 114:1146–1147, 1996
Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clinical Dysmorphology, 3;12:45–49, 2003
Karadeniz NN, Kocak-Midillioglu I, Erdogan D, Bökesoy I. Is SHORT syndrome another phenotypic variation of PITX2? American Journal of Medical Genetics A, 130A:406–409, 2004
Dyment DA, Smith AC, Alcantara D, et al. Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93:158–166, 2013
Schroeder C, Riess A, Bonin M, et al. PIK3R1 mutations in SHORT syndrome. Clinical Genetics, 86(3):292-294, 2014
Avila M, Dyment D A, Sagen JV, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clinical Genetics, 89: 501-506, 2016