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Floating-Harbor syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. Explore symptoms, inheritance, genetics of this condition.
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.
9 de oct. de 2014 · Floating Harbor syndrome (FHS) is a very rare condition that affects the face, skeleton, and language development. It is caused by mutations in the SRCAP gene and can be inherited or sporadic. Learn more about FHS symptoms, causes, and treatment from NORD.
¿Qué es el síndrome de Floating-Harbor y cómo se causa? El síndrome de Floating-Harbor es una condición genética que causa baja estatura, retraso en el habla y el lenguaje y características faciales
29 de nov. de 2012 · Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe ...
Abnormal Fetal Growth. Cheri L. Deal, in Maternal-Fetal and Neonatal Endocrinology, 2020. 51.6.6 Floating-Harbor Syndrome. This autosomal dominant syndrome is yet another rare syndrome with FGR and adult short stature, for which the literature reveals less than 100 patients.
