microbrachycephaly-ptosis-cleft lip syndrome
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Richieri Costa-Guion Almeida-Ramos syndrome
exact
microbrachycephaly ptosis cleft lip
related
short stature, mental retardation, eye anomalies, and cleft Lip/palate
related