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Cleft palate-large ears-small head syndrome

Disease definition

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.

ORPHA:2013

Classification level: Disorder
  • Synonym(s):
    • Say-Barber-Hobbs syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 181180
  • UMLS: C1867023
  • MeSH: -
  • GARD: 162
  • MedDRA: -
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