Qazi-Markouizos syndrome

Also known as: Dysharmonic skeletal maturation-muscular fiber disproportion syndrome

Definition

Orphanet

Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.

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).
Severe global developmental delay Severe psychomotor retardation A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Constipation Costiveness, Dyschezia Infrequent or difficult evacuation of feces.
Abnormal dermatoglyphics Abnormal fingerprints, Dermatoglyphic abnormalities An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
Dysharmonic bone age Dysharmonic skeletal maturation Different levels of maturation of different bones.
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.
Central hypotonia Reduced muscle tone secondary to an abnormality of the central nervous system.
Chronic constipation Infrequent bowel movements Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.

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