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Bannayan-Riley-Ruvalcaba syndrome

MIM.153480

Friday 5 March 2004

Allelic disease with Cowden disease (MIM.158350) caused by mutation in the PTEN gene (phosphatase and tensin homolog gene) (MIM.601728). Autosomal dominant inheritance.

Synopsis

- macrosomy
- macrocephaly
- downslanting palpebral fissures
- strabismus
- amblyopia
- prominent Schwalbe lines
- prominent corneal nerves
- pseudopapilledema
- tongue polyps
- high-arched palate
- pectus excavatum
- supernumerary nipples
- ileal hamartomatous polyps
- colonic hamartomatous polyps
- intussusception
- rectal bleeding
- enlarged penis
- enlarged testis
- scoliosis
- joint hyperextensibility
- macrodactyly
- tan macules on glans penis and penile shaft (pigmented macules of the glans penis)
- acanthosis nigricans
- reactive nodular lymphoid hyperplasia (16894538)
- autism (16894538)
- angiokeratoma
- cafĂ© au lait spots
- arteriovenous malformation (AVM) (17032868)

- thick corpus callosum
- Hashimoto thyroiditis
- lipid storage myopathy

- tumor predisposition

See also

- PTEN hamartoma tumor syndrome (PHTS)

  • Cowden disease
  • Lhermitte-Duclos disease
  • Proteus syndrome

- overgrowth syndromes
- juvenile polyposis