Cleft palate-large ears-small head syndrome
Synonyms: Say-Barber-Hobbs 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 hypospadias cerebral anomalies on imaging (enlargement of lateral ventricles mild cortical atrophy) seizures hypotonia and developmental delay are also observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Cleft palate-large ears-small head syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.