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.

Also known as: Say-Barber-Hobbs syndrome, SAY syndrome, Say Barber Hobbs syndrome, cleft palate large ears small head, cleft palate, microcephaly, large ears, and short stature

0 clinical trials for this condition and its sub-types, 0 tagged with Cleft palate-large ears-small head syndrome itself.