Cleft palate-large ears-small head syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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