hereditary disease cleft palate-large ears-small head syndrome https://www.malacards.org/card/cleft_palate_large_ears_small_head_syndrome https://www.malacards.org/card/say_syndrome cleft palate large ears small head UMLS:C1867023 Say-Barber-Hobbs syndrome GARD:0000162 cleft palate, microcephaly, large ears, and short stature MEDGEN:357895 Say Barber Hobbs syndrome SCTID:763130006 MESH:C536621 Orphanet:2013 OMIM:181180 MONDO:0008402 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.