Temple-Baraitser syndrome
A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0019285
obsolete syndromic nail anomaly (obsolete MONDO:0019285)
excluded_subClassOf
MONDO:0100485
KCNH1 associated disorder
is_a
TMBTS
exact
Temple-Baraitser syndrome
exact
mental retardation, severe, and absent nails of hallux and pollex
related
severe intellectual disability and absent nails of hallux and pollex
related
severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
exact
severe mental retardation and absent nails of hallux and pollex
related