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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.
¿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
Definición de la enfermedad. Es un síndrome dismórfico/ de anomalías congénitas múltiples asociado a discapacidad intelectual caracterizado por dismorfia facial, talla baja con retraso de la edad ósea y del lenguage expresivo. ORPHA:2044. Nivel de clasificación: Trastorno. Prevalencia: Desconocido. Herencia: Autosómica dominante.
Floating-Harbor syndrome is a genetic disorder that causes short stature, delayed bone age, speech delay, and facial features. Learn about the symptoms, inheritance, and genetics of this condition from MedlinePlus Genetics.
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 ...
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 an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays.
