Orphanet: X linked female restricted facial dysmorphism short stature choanal atresia intellectual disability

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X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.


Classification level: Disorder
  • Synonym(s):
    • X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 300968
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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