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GENATLAS PHENOTYPE

last update : 09-7-2009

Symbol	PHTO
Location	4q34-q35
Name	primary hypertrophic osteoarthropathy
Other name(s)	pachydermoperiostosis, autosomal recessive Touraine-Solente-Gole syndrome cranioosteoarthropathy
Corresponding gene	HPGD
Other symbol(s)	PDP
Main clinical features	mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology, early-onset developmental anomalies associated with clubbing, hyperhidrosis, bone and joint pain and skin thickening; radiology revealed typical diaphyseal periostosis and acro-osteolysis cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis (Seifert 2009)
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

Homozygous individuals develop primary hypertrophic osteoarthropathy secondary to chronically elevated prostaglandin E2 levels