Less than One in a Million, a Rare Case of Sensenbrenner Syndrome

Abstract

Sensenbrenner syndrome (CED, cranioectodermal dysplasia) is a rare autosomal recessive skeletal ciliopathy characterized by dolichocephaly, facial dysmorphism, short stature, brachydactyly, and bowing of long bones. It is often associated with nephronophthisis leading to end-stage renal disease in infancy and global developmental delay. Diagnosis is based on typical clinical features and detection of pathogenic variants of genes, most frequently WDR19 or IFT122. CaA patient was born via cesarean section at 39 weeks due to abnormal cardiotocography findings. Prenatal ultrasound revealed postaxial polydactyly, shortening of long bones and nasal bridge edema. On the 12 days of age, he was admitted to the neonatal intensive care unit due to adaptation disorders. Physical examination showed macrocephaly, micrognathia, a narrow thorax, hypotonia, and dysmorphic features. Abdominal ultrasound revealed kidneys with poor corticomedullary differentiation. At 2 months, chronic kidney disease was diagnosed. Ophthalmologic evaluation revealed optic nerve hypoplasia, and brain magnetic resonance imaging showed enlarged cerebrospinal fluid spaces and cerebellar vermis dysplasia. The patient exhibited psychomotor developmental delay attributed to visual impairment and hypotonia. Recurrent metabolic acidosis was successfully treated. At one year, whole-exome sequencing identified two heterozygous pathogenic WDR19 variants, confirming Sensenbrenner syndrome. The child remains under multidisciplinary medical care aimed at monitoring disease progression and supporting development. Early diagnosis of rare Sensenbrenner syndrome enables timely implementation of targeted management strategies, which may improve patients’ quality of life and overall prognosis. Clinical experience sharing among specialists is essential to enhance the care provided to patients with ultrarare diseases.