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

Achondroplasia

A form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

Total: 1

(per page)

PMID (PMCID)
21052511 (2955274)	FEMALE	Child
	A case of chorioretinal coloboma in a patient with achondroplasia.
	Yoo WS, Park YJ, Yoo JM. Korean J Ophthalmol. 2010;24(5):302-5.
	The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy.