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Hartsfield syndrome

Disease definition

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

ORPHA:2117

Classification level: Disorder
  • Synonym(s):
    • Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 615465
  • UMLS: C1845146
  • MeSH: -
  • GARD: 2725
  • MedDRA: -

Detailed information

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