Riley-Smith syndrome

Bannayan-Riley-Ruvalcaba syndrome

A rare autosomal dominant disorder (OMIM:153480) characterised by: excessive growth before and after birth; increased birth weight and length; macrocephaly often with scaphocephaly; normal intelligence or mild mental retardation; multiple subcutaneous hamartomas, lipomas, macrocephaly and hemangiomas; ocular defects (strabismus, ocular hypertelorism, exotropia and/or pseudopapilledema, hypotonia); drooling; delayed speech development and/or significant delay in developmental milestones (sitting, standing, walking); hamartomatous polyps in gastrointestinal tract and oropharynx; marbled skin pigmentation (cutis marmorata and pigmented macules on the penis or vulva); and myopathy.
Molecular pathology
Like Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, Proteus syndrome and Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome is caused by mutations of PTEN, all of which are known as PTEN hamartoma-tumour syndromes.

Riley-Smith syndrome

An AD condition characterized by benign–ie, not associated with hydrocephalus or neurologic defects–macrocephaly, multiple subcutaneous hemangiomas, and pseudopapilledema

单词	riley-smith syndrome
释义	Riley-Smith syndrome Bannayan-Riley-Ruvalcaba syndrome A rare autosomal dominant disorder (OMIM:153480) characterised by: excessive growth before and after birth; increased birth weight and length; macrocephaly often with scaphocephaly; normal intelligence or mild mental retardation; multiple subcutaneous hamartomas, lipomas, macrocephaly and hemangiomas; ocular defects (strabismus, ocular hypertelorism, exotropia and/or pseudopapilledema, hypotonia); drooling; delayed speech development and/or significant delay in developmental milestones (sitting, standing, walking); hamartomatous polyps in gastrointestinal tract and oropharynx; marbled skin pigmentation (cutis marmorata and pigmented macules on the penis or vulva); and myopathy. Molecular pathology Like Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, Proteus syndrome and Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome is caused by mutations of PTEN, all of which are known as PTEN hamartoma-tumour syndromes. Riley-Smith syndrome An AD condition characterized by benign–ie, not associated with hydrocephalus or neurologic defects–macrocephaly, multiple subcutaneous hemangiomas, and pseudopapilledema
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