Category: R

A measure of the difficulty of a passage of reading matter.  

Disorders that appear in relatively few people, including genetic disorders, chromosomal abnormalities, unusual infectious diseases, and other health problems of unknown origin. For information on the many rare disorders not covered in this book, parents may want to contact the organizations listed below, as well as checking with any local self- help clearinghouses to see…

Russell-Silver syndrome is a rare disorder characterized by retarded growth, asymmetry of the body and face, and a triangular face.  

Roussy-Levy syndrome (RSL) is a movement disorder with onset in early childhood. The disorder was first identified in 1926. It is an autosomal dominant inherited degenerative disease of the central nervous system characterized predominantly by ataxia, high arched feet, and areflexia; it is eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss.…

Rothmund-Thomson syndrome (RTS) is a rare, heritable disorder of the skin and skin derivatives (hair and nails). Approximately 50% of affected individuals will also develop cataracts during the first decade of life. Within the realm of medical conditions, there exists a rare disorder distinguished by certain defining features. These include a diminished stature, premature hair…

Romano Ward syndrome is one variety in a group of genetic heart disorders known as long QT syndrome. Romano Ward syndrome is the most common form of long QT syndrome (it accounts for approximately 60%). The QT interval refers to a quantity measured on the electrocardiogram (ECG). The duration of the QT interval is a…

Robinow syndrome is a genetic disorder that is often called fetal face syndrome due to the characteristic facial appearance resembling that of a fetus of about 8 weeks gestation. Mesomelic dwarfism, hypoplastic genitalia, and dental abnormalities also characterize the disorder.  

Rieger syndrome is an autosomal dominant gene disorder characterized by eye anomalies associated with glaucoma, mild craniofacial abnormalities, and absence or malformation of teeth.  

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…