| CdLS | Cornelia de Lange syndrome |
| FGR | fetal growth restriction |
| PEG-PEJ | percutaneous endoscopic gastrostomy–jejunostomy |
| GERD | gastroesophageal reflux |
| VSD | ventricular septal defect |
| aCGH | array comparative genomic hybridization |
| NGS | next-generation sequencing |
| MLPA | multiplex ligation-dependent probe amplification |
| WES | whole-exome sequencing |
| WGS | whole-genome sequencing |
| TFU | transfontanelle ultrasound |
| TMJ | temporomandibular joint |
| TTE | transthoracic echocardiography |
| PEG | percutaneous endoscopic gastrostomy |
| SIB | self-injurious behavior |
| ADHD | attention deficit hyperactivity disorder |
| PACU | post-anesthesia care unit |
| CNV | copy number variation |
| SNPs | single nucleotide polymorphisms |
| CPs | chromatinopathies |