Autosomal dominant disease

Synopsis

 multiple digestive juvenile polyps

• gastric juvenile polyps
• colorectal juvenile polyps

Association

 hereditary hemorrhagic telangiectasia (#11795766#, #9892274#, #8165825#)
 arachnoid cyst of the posterior fossa with cerebellar tentorium dysplasia (#12686769#)

Etiology

 mutations in the MADH4 (SMAD4/DPC4) gene (MIM.600993) located on 18q21.1
 mutations in the gene encoding bone morphogenetic protein receptor 1A (BMPR1A) (MIM.601299)

Associations

 cardiac malformations
 intestinal malrotation

 craniofacial anomalies

• clet lip/palate
• macrocephaly and hydrocephaly
• hypertelorism

 tracheal stenosis
 pulmonary arteriovenous malformation
 intestinal malrotation
 Meckel diverticulum
 umbilical fistula
 mesenteric lymphangioma
 colonic adenocarcinoma (cancer not arising in polyps)
 bifid uterus
 vaginal duplication
 cryptorchidism (undescended testes)
 inguinal hernia
 digital clubbing
 polydactyly
 porphyria
 amyotonia congenita

Differential diagnosis

 hereditary mixed polyposis syndrome (HMPS) (MIM.601228)