Ectrodactyly–ectodermal dysplasia–cleft syndrome

Autosomal dominant - en

Ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC syndrome) is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. It is an autosomal dominant condition with variable expressivity and incomplete penetrance.

Signs and Symptoms

Individuals with EEC syndrome typically present with the following features:

• Ectrodactyly: Also known as split hand/foot malformation, this condition involves the absence of one or more central digits of the hand or foot.
• Ectodermal dysplasia: This includes abnormalities in the development of the skin, hair, nails, teeth, and sweat glands. Common manifestations include sparse hair, missing teeth, and abnormal nail growth.
• Cleft lip and palate: A congenital split in the upper lip and/or roof of the mouth.

Additional symptoms may include:

• Hearing loss
• Urinary tract anomalies
• Keratitis
• Lacrimal duct obstruction

Genetics

EEC syndrome is primarily caused by mutations in the TP63 gene, which plays a crucial role in the development of ectodermal tissues. The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the disorder.

Diagnosis

Diagnosis of EEC syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic triad of symptoms often leads to a clinical diagnosis, which can be confirmed by identifying mutations in the TP63 gene.

Treatment

There is no cure for EEC syndrome, and treatment is symptomatic and supportive. Management may include:

• Surgical correction of cleft lip and palate
• Dental care for missing or malformed teeth
• Dermatological treatments for skin issues
• Hearing aids for hearing loss
• Regular monitoring and management of urinary tract anomalies

Prognosis

The prognosis for individuals with EEC syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and supportive treatments, many individuals can lead relatively normal lives.

Related Pages

• Ectrodactyly
• Ectodermal dysplasia
• Cleft lip and palate
• TP63
• Autosomal dominant