trichorhinophalangeal syndrome type II
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016907
partial deletion of the long arm of chromosome 8
is_a
MONDO:0017951
trichorhinophalangeal syndrome
is_a
Giedion-Langer syndrome
related
Langer Giedion syndrome
related
Langer-Giedion syndrome
exact
TRPS 2
related
TRPS2
related
deletion 8q24.1
exact
monosomy 8q24.1
exact
trichorhinophalangeal syndrome type 2
exact
trichorhinophalangeal syndrome, type II
related