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Bannayan-Riley-Ruvalcaba syndrome

MIM.153480

Bannayan-Zonana syndrome ; Riley-Smith syndrome ; Ruvalcaba-Myhre-Smith syndrome ; Macrocephaly, pseudopapilledema, multiple hemangiomata ; Macrocephaly, multiple lipomas, hemangiomata

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

-  macrosomy
-  macrocephaly
-  downslanting palpebral fissures
-  strabismus
-  amblyopia Prominent Schwalbe lines Prominent corneal nerves Pseudopapilledema

Mouth

tongue polyps High-arched palate

CHEST : Ribs and sternum Pectus excavatum Breasts Supernumerary nipples

ABDOMEN : Gastrointestinal Ileal hamartomatous polyps Colonic hamartomatous polyps Intussusception Rectal bleeding

GENITOURINARY : External genitalia, male Enlarged penis Enlarged testis

SKELETAL : Spine Scoliosis Limbs Joint hyperextensibility Hands Macrodactyly

SKIN, NAILS, HAIR : Skin Tan macules on glans penis and penile shaft Acanthosis nigricans Angiokeratoma Cafe au lait spots Lipoma Hemangiomas

-  thick corpus callosum

Associations

-  Hashimoto thyroiditis
-  lipid storage myopathy
-  Meningioma
-  Thyroid follicular cell tumor

-  AGCOH

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