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GTR Home > Conditions/Phenotypes > Floating-Harbor syndrome

Floating-Harbor syndrome

Synonyms
Pelletier-Leisti syndrome; Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Floating-Harbor Syndrome
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 receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Malgorzata JM Nowaczyk
Sarah M Nikkel
Susan M White
view full author information

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEHMBA, DOMO1, EAF1, FLHS, SWR1, SRCAP
    Summary: Snf2 related CREBBP activator protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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