macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100283
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a
MONDO:0100545
hereditary neurological disease
is_a
MINDS syndrome
exact
SKS
related
Smith-Kingsmore Syndrome
exact
Smith-Kingsmore syndrome
exact
macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism
related
SPBC216.07c SPBC30D10.10c