Diseases

Opitz Gbbb Syndrome, Type I

opitz gbbb syndrome, type i

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Description: JABL99:First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated disorders may include craniofacial anomalies, congenital heart defects, laryngotracheal disorders with dysphagia and aspiration, developmental delay, and other abnormalities. Most symptoms occur in both genetically determined forms, except for anteverted nares and posterior pharyngeal cleft which are found only in X-linked families. The acronym BBB stands for the initials of the last names of each of the three originally reported families. Opitz described the G syndrome, also named after the affected family, consisting of apparent hypertelorism, mild downslanting of the palpebral fissures, epicanthal folds, hypospadias, and laryngotracheoesophageal defects.

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target disease8 Targets

gamma-butyrobetaine hydroxylase 1

No data

midline 1