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  1. rarediseases.info.nih.gov › diseases › 6455Floating-Harbor syndrome - About the Disease - Genetic and Rare...

    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.

  2. rarechromo.org › media › translationsSíndrome de Floating Harbor - Unique

    ¿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

  3. medlineplus.gov › genetics › conditionFloating-Harbor syndrome: MedlinePlus Genetics

    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.

  4. en.wikipedia.org › wiki › Floating–Harbor_syndromeFloating–Harbor syndrome - Wikipedia

    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.

  5. www.orpha.net › es › diseaseOrphanet: Síndrome de Floating-Harbor

    Síndrome de Floating-Harbor. Aportaciones. 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.

  6. www.ncbi.nlm.nih.gov › books › NBK114458Floating-Harbor Syndrome - GeneReviews® - NCBI Bookshelf

    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 ...

  7. rarediseases.org › rare-diseases › floating-harbor-syndromeFloating Harbor Syndrome - Symptoms, Causes, Treatment | NORD

    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.