Hartsfield syndrome

Definition

Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur, separately, as part of numerous syndromes, but the co-occurrence of these two malformations has only been reported only in a very limited number. Additional signs such as craniosynostosis, hypertelorism or hypotelorism, microphthalmia, abnormal ears, radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome.

References:

[1]. Nicolas Simonis, et al. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. [Content Brief]

[2]. Roseli Maria Zechi-Ceide, et al. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. Am J Med Genet A. 2009 Jun;149A(6):1277-9. [Content Brief]

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