camptodactyly syndrome, Guadalajara type 3
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000111
camptodactyly syndrome, Guadalajara
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
camptodactyly syndrome Guadalajara type 3
related