disease: Hartsfield syndrome

nameHartsfield syndrome
descriptionHoloprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having "microform" HPE.
variant-disease NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) AND Hartsfield syndrome
NM_023110.2(FGFR1):c.1454G>T (p.Gly485Val) AND Hartsfield syndrome
NM_023110.2(FGFR1):c.572T>C (p.Leu191Ser) AND Hartsfield syndrome
NM_015850.4(FGFR1):c.1595_1597TGA[1] (p.Met533del) AND Hartsfield syndrome
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) AND Hartsfield syndrome
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