Presentation
At this time, the patient additionally presented muscular hypotonia and presented with moderate intellectual disability, aggressive and hyperactive behavior, limited verbal language repertoire and dysarthria. [ncbi.nlm.nih.gov]
Classically, patients with this syndrome present with microcephaly, a round face, hypertelorism, micrognathia, prominent nasal bridge, epicanthic folds, hypotonia, and severe psychomotor retardation. [jmg.bmj.com]
At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [cyberleninka.org]
Entire Body System
- Cerebral Palsy
palsy 4462 B00309 Charlie M syndrome 4463 B00325, B00326 1q4 monosomy del(1)(q42 or q43-qter) (1q42 or q43-qter monosomy) 4464 B00327 1q25-q32 trisomy dup(q25-q32) [Dup(1q) syndrome] 4465 B00328 1q32-qter trisomy dup(1)(q32-qter) [Dup(1q) syndrome] 4466 [syndromefinder.ncchd.go.jp]
Eyes
- Small Eyes
[…] set eyes * Fetal growth retardation * Low-set ears * Small eyes * Joint anomaly * Infant death * Anteverted nostrils * Malplaced anus * Small head * Thin lips Diagnosis This medical information about signs and symptoms for Chromosome 1, monosomy 1q32 [checkorphan.org]
Face, Head & Neck
- Depressed Nasal Bridge
Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]
Etiology
However, these malformations may be multifactorial in their etiology. [cyberleninka.org]