Aniridia-renal agenesis-psychomotor retardation syndrome

Also known as: Sommer-Rathbun-Battles syndrome

Definition

Orphanet

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Unilateral renal agenesis Absent kidney on one side, Unilateral kidney agenesis, Missing one kidney, Single kidney [more] A unilateral form of agenesis of the kidney.
Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Telecanthus Dystopia canthorum, Increased distance between medial canthi, Increased intercanthal distance, Corners of eye widely separated [more] Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Renal agenesis Missing kidney, Absent kidney, Renal aplasia [more] Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Aniridia Absent iris Congenital absence of the iris.
Congenital glaucoma Childhood glaucoma, Pediatric glaucoma, Infantile glaucoma [more]
Partial aniridia Sectoral aplasia of the iris.
Frontal bossing Skull bossing, Frontal protruberance Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Other Classifiers and IDs