EECsyndrom

EEC syndrome, also called ectrodactyly-ectodermal dysplasia-clefting syndrome, is a rare congenital disorder defined by three main features: ectodermal dysplasia, ectrodactyly (split hand/foot malformation), and orofacial clefting such as cleft lip and/or cleft palate. The ectodermal dysplasia component often includes sparse hair (hypotrichosis), reduced sweating (hypohidrosis), and dental anomalies such as missing teeth and peg-shaped teeth. Additional signs may involve nails, skin, eyes, or hearing.

Genetics: EEC is usually inherited in an autosomal dominant pattern with variable expression. Most cases are due to mutations in TP63, a transcription factor essential for ectodermal development. Some instances occur de novo. The phenotype overlaps with other TP63-related disorders, notably AEC syndrome.

Diagnosis: Diagnosis relies on clinical features and is supported by genetic testing for TP63 variants. Differential diagnosis includes other ectodermal dysplasia syndromes and craniofacial clefting conditions.

Management: Care is multidisciplinary and tailored to the individual. Dental care may include dentures or implants; orthodontics may be needed. Skin and sweating management, surgical repair or rehabilitation of clefts, and speech therapy may be required. Regular monitoring for associated anomalies and genetic counseling are recommended.

Prognosis and epidemiology: EEC is rare, with severity varying among individuals. With comprehensive medical, dental, and surgical care, many affected people have good functional outcomes, though some manifestations may require ongoing management.