Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Cleft lip/palate

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

Splenomegaly

Abnormal increased size of the spleen.

Total: 1

(per page)

PMID (PMCID)
9188663	MALE	Infant, Newborn
	Severe Hajdu-Cheney syndrome with upper airway obstruction.
	Crifasi PA, Patterson MC, Bonde D, Michels VV. Am J Med Genet. 1997;70(3):261-6.
	We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, congenital heart disease, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, vertebral anomalies, and upper airway obstruction.