GORLIN SYNDROME
Also known as Nevoid Basal cell Carcinoma Syndrome, Basal Cell Nevus Syndrome and Multiple Basal Cell Carcinoma Syndrome
Gorlin Syndrome is an inherited "autosomal dominant" condition; there is a 50% chance that children can inherit it from a parent with the condition. In some people it can start as a brand new gene mutation and they can pass the gene mutation onto their own children. Typically symptoms start to show in young adulthood but young children can show some signs.
SYMPTOMS INCLUDE:
Basal Cell Carcinoma (BCC): Multiple BCCs over the skin and not just in sun-exposed areas.
Oral Cysts: These are also known as Keratocystic Odontogenic Tumours (KCOT or KOT) and develop in the mandible and maxilla bones of the jaw.
Brain Tumours: Known as Medulloblastomas can develop in childhood.
Fibromas: Benign tumours of the heart or in the woman's ovaries.
APPEARANCE
Facial Differences: Larger head than usual, a prominent forehead or jaw line, wide-set eyes and eye problems including cataracts. Children can have a cleft lip or palate.
Palmer / Plantar Pits: Very small pits or depressions on the palms of the hands and sole of the feet.
Skeletal Changes: Prominent curve of the spine, a sunken or protruding chest and rib changes
Head: Calcification of the lining of the brain seen on x-ray "falx calcification".
Hand Deformities: Some babies are born with extra digits, others are missing digits.
Also known as Nevoid Basal cell Carcinoma Syndrome, Basal Cell Nevus Syndrome and Multiple Basal Cell Carcinoma Syndrome
Gorlin Syndrome is an inherited "autosomal dominant" condition; there is a 50% chance that children can inherit it from a parent with the condition. In some people it can start as a brand new gene mutation and they can pass the gene mutation onto their own children. Typically symptoms start to show in young adulthood but young children can show some signs.
SYMPTOMS INCLUDE:
Basal Cell Carcinoma (BCC): Multiple BCCs over the skin and not just in sun-exposed areas.
Oral Cysts: These are also known as Keratocystic Odontogenic Tumours (KCOT or KOT) and develop in the mandible and maxilla bones of the jaw.
Brain Tumours: Known as Medulloblastomas can develop in childhood.
Fibromas: Benign tumours of the heart or in the woman's ovaries.
APPEARANCE
Facial Differences: Larger head than usual, a prominent forehead or jaw line, wide-set eyes and eye problems including cataracts. Children can have a cleft lip or palate.
Palmer / Plantar Pits: Very small pits or depressions on the palms of the hands and sole of the feet.
Skeletal Changes: Prominent curve of the spine, a sunken or protruding chest and rib changes
Head: Calcification of the lining of the brain seen on x-ray "falx calcification".
Hand Deformities: Some babies are born with extra digits, others are missing digits.
