Conditions / Syndrome
cleft palate, cardiac defects, and intellectual disability
info · Syndrome
A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.
Signs and symptoms
- Narrow forehead
- Tented upper lip vermilion
- Upslanted palpebral fissure
- Gastroesophageal reflux
- Oral aversion
- Congenital lobar overinflation
- Perimembranous ventricular septal defect
- Thin upper lip vermilion
- Intellectual disability
- Highly arched eyebrow
Also known as: CPCMR; cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies; cleft palate, cardiac defects, and mental retardation