Mindblown: a blog about philosophy.

Rhythmic movement disorder (RMD), also known as stereotypic movement disorder (SMD; American Psychiatric Association, 1994), jactatio captis nocturna and rythmie de sommeil, refers to a group of stereotypical, rhythmic, repetitive movements or vocalizations. RMD is diagnosed if it occurs in children particularly preschool-age children during drowsy or sleep periods or during the sleep-wake period of…

Rett syndrome (RS) is a pervasive neurodevelopmental disorder that affects almost solely females. It is marked by a period of apparently normal development for 6-18 months, followed by rapid physical and mental deterioration. The discovery in 1999 of the X-linked methyl-CpG-binding protein 2 gene (MeCP2) mutation confirmed RS’s long-inferred genetic basis. A rare, pervasive developmental…

Retinopathy of prematurity (ROP) is the most common cause of retinal damage in infancy. Incidence has recently been stable, but prevalence is increasing because of the increased survival of infants with very low birth weight about 67% of infants who weigh less than 3 pounds (1,251 g) and about 80% of infants who weigh less…

Restrictive dermopathy is a rare, fatal skin disease. The skin of infants with restrictive dermopathy is bright red, tight, and inflexible. In infants who survive for more than 2 weeks, the skin becomes progressively more rigid. These infants are generally born with opened mouths and fixed joints. These infants have few creases and furrows on…

Reifenstein syndrome (partial androgen insensitivity) is an inherited condition caused by a mutation of the androgen receptor gene in which testes are present but both male and female sexual characteristics exist. In approximately two thirds of the cases, the syndrome is inherited from the mother; in the other third, a mutation occurs. Outward genitalia can…

Rasmussen encephalitis is a relatively rare disorder defined by chronic inflammation of the brain (unilateral cerebral pathology) that results in progressive deterioration of function in one hemisphere, often followed by gradual partial recovery of function associated with reorganization. Etiology is generally unknown with no indications of viral pathogenesis (e.g., cytomegalovirus) or genetic determination. Rasmussen encephalitis…

Rapp-Hodgkin syndrome (RHS) belongs to a group of genetic disorders known as ectodermal dysplasia syndromes. In general, ectodermal dysplasia syndromes are caused by defects in the formation of the ectoderm (the outermost layer of embryonic tissue) during gestation. Ectodermal dysplasia syndromes are multisystem disorders that are characterized by the deficient function or absence of at…