cleft palate-large ears-small head syndrome
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
MONDO:0003847
hereditary disease
is_a
Say Barber Hobbs syndrome
related
Say-Barber-Hobbs syndrome
exact
cleft palate large ears small head
related
cleft palate, microcephaly, large ears, and short stature
related