Sifrim-Hitz-Weiss syndrome
A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males).
MONDO:0003847
hereditary disease
is_a
CHD4-related neurodevelopmental disorder
exact
SIHIWES
exact
Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome
related
Sifrim-Hitz-Weiss syndrome
exact
Sifrim-Hitz-Weiss syndrome; SIHIWES
exact
SPBP35G2.10