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

Proximal symphalangism

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

Scoliosis

The presence of an abnormal lateral curvature of the spine.

Total: 1

(per page)

PMID (PMCID)
11169566	MALE	Adult
	Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome?
	Morimoto J, Kaneoka H, Murata T, Sato YN, Ogahara S, Hirose S, Naito S, Naritomi K. Am J Med Genet. 2001;98(3):269-72.
	His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus.