Total 21 clinical symptoms reported for Muenke syndrome
Global developmental delay |
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.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Occasional |
Hydrocephalus |
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Synonyms:Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain |
Occasional |
Hypermelanotic macule |
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Synonyms:Hyperpigmented macules; Hyperpigmented spots |
Occasional |
Hypopigmentation of hair |
Synonyms:Hair hypopigmentation; Loss of hair color |
Occasional |
Hypopigmented skin patches |
Synonyms:Patchy loss of skin color |
Occasional |
Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Occasional |