2p21 microdeletion syndrome

Also known as: 2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21

Definition

Orphanet

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Acidosis acidemia Abnormal acid accumulation or depletion of base.
Lactic acidosis Lactic acidemia, Lacticacidemia, Hyperlacticacidemia, Lacticacidosis [more] An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Severe muscular hypotonia Hypotonia, severe A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
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.
Cystinuria High urine cystine levels An increased concentration of cystine in the urine.

Other Classifiers and IDs