Total 49 clinical symptoms reported for Phelan-McDermid syndrome
Accelerated skeletal maturation |
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Advanced bone age; Early bone maturation |
Very frequent |
Bruxism |
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
Synonyms:Teeth grinding |
Very frequent |
Delayed speech and language development |
A degree of language development that is significantly below the norm for a child of a specified age.
Synonyms:Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay |
Very frequent |
Hypoplastic toenails |
Underdevelopment of the toenail.
Synonyms:Underdeveloped toenails |
Very frequent |
Impaired pain sensation |
Reduced ability to perceive painful stimuli.
Synonyms:Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation |
Very frequent |
Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
Neonatal hypotonia |
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Synonyms:Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset |
Very frequent |