cardiocranial syndrome, Pfeiffer type
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015338
syndromic craniosynostosis
is_a
Cardiocranial syndrome
related
Pfeiffer Singer Zschiesche syndrome
related
Pfeiffer-Singer-Zschiesche syndrome
exact
Pfeiffer-type cardiocranial syndrome
related
craniosynostosis-congenital heart disease-intellectual disability syndrome
exact
sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
exact