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Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. [1]
Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. [1] The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first ...
Trigonocephaly-bifid nose-acral anomalies syndrome is a very rare genetic disorder which is characterized by trigono brachycephaly, narrow forehead, up-ward slanting palpebral fissures, bulbous, slightly bifid nose, macrostomia, thin upper lip, macrognathia (facial dysmorphisms), broad thumbs, rather large toes, broad fingertips with short nail beds, joint hypermobility and fifth finger ...
John M. Opitz (August 15, 1935 – August 31, 2023) was a German-American medical geneticist and professor at the University of Utah School of Medicine.He is best known for rediscovering the concept of the developmental field in humans (first enunciated by Hans Spemann in amphibians) and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes ...
Smith–Lemli–Opitz syndrome, a metabolic and developmental disorder; Opitz trigonocephaly syndrome, type of cephalic disorder; Opitz–Kaveggia syndrome, genetic syndrome; Autosomal dominant opitz G/BBB syndrome, disorder caused by the deletion of a small piece of chromosome 22
Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases. [2] [3] A second gene associated with this condition is the Kelch-like family member 7 . [citation needed]
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull Last case reported in 1987. [36] Cloverleaf skull-multiple congenital anomalies syndrome Cloverleaf skull Seen in 3 siblings from 1 family. [37] Contractures, pterygia, and spondylocarpotarsal fusion syndrome Microcephaly [38] Cole-Carpenter syndrome: Coronal Turricephaly
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, [1] or ciliary function. [2] Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. [3]