ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Ectrodactyly Ectodermal Dysplasia-Cleft (EEC) Syndrome

EEC syndrome is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the syndrome.

• Ectrodactyly: Also known as "lobster-claw deformity," this refers to the development of anomalies in the limbs, resulting in missing or partially formed fingers or toes.
• Ectodermal dysplasia: This aspect of the syndrome affects structures derived from the embryonic ectoderm, including the epidermis, mammary glands, pituitary gland, and sweat glands. It can lead to abnormalities such as sparse hair, dry skin, and reduced sweating.
• Orofacial clefts: Cleft lip and/or palate are common features of EEC syndrome, which can affect speech, eating, and overall quality of life.

Other features associated with EEC syndrome include vesicoureteral reflux, hearing loss, and intellectual disability. The severity and combination of symptoms can vary greatly from one person to another, making each case unique.

References:

• [1] - Ectrodactyly ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly (development of anomalies of limbs), ectodermal dysplasia, and orofacial clefts.
• [4] - EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly (development of anomalies of limbs), ectodermal dysplasia, and facial clefts.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (EEC3) Signs and Symptoms

Individuals with EEC3 can experience a range of symptoms that affect various parts of the body. Some common signs and symptoms include:

• Absent or partially formed fingers/toes: This is one of the most distinctive features of EEC3, where individuals may have missing or underdeveloped digits on their hands and feet [1].
• Cleft lip/palate: A cleft lip or palate can occur in some cases, which can result in difficulties with feeding, speech, and hearing [2].
• Flat nasal tip: The nose may appear flat or underdeveloped, which can be a characteristic feature of EEC3 [3].
• Abnormalities of the genitourinary system: In some cases, individuals with EEC3 may experience abnormalities in the development of their urinary and reproductive systems [1].
• Eye abnormalities: The eyes may be affected, with symptoms ranging from mild to severe, including ankyloblepharon (fused eyelids) [4].
• Skin erosion: Skin erosion can occur, particularly on the scalp, face, or other areas, which can lead to life-threatening infections in infancy and scarring [8].
• Hair loss: Hair loss is a common symptom of EEC3, which can be severe in some cases [9].

It's essential to note that each individual with EEC3 may experience a unique combination of symptoms, and the severity of these symptoms can vary widely. A proper diagnosis by a qualified medical professional is necessary for an accurate assessment.

References:

[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 5 [8] Context 8 [9] Context 9

Diagnostic Tests for EEC Syndrome 3

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (EEC syndrome 3) can be diagnosed through various tests. Here are some of the diagnostic methods:

• Clinical Examination: The diagnosis is usually made by assessment of the clinical features either at, or soon after birth [1].
• X-rays of the limbs and jaw: X-rays are taken to examine the bones and joints for any abnormalities [3].
• Kidney ultrasound: This test may be performed to check for any kidney problems associated with EEC syndrome 3 [3].
• Ophthalmologic examination: An eye exam may be conducted to rule out any eye-related issues [3].
• Electron microscopic studies of hair shafts: These studies can reveal longitudinal ridging or other abnormalities in the hair shaft, which is a characteristic feature of EEC syndrome 3 [5].
• Molecular genetic testing: The confirmatory diagnosis is by molecular genetic testing for TP63 gene mutations [7].

Blood Test: A blood test can be done to do a genetic test and diagnose EEC syndrome 3. However, this method may not be 100% accurate [4].

It's worth noting that prenatal diagnosis of EEC syndrome 3 can be suspected based upon identification of ectrodactyly, cleft lip/palate, and other associated features through ultrasound examination [2].

Treatment Overview

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) is a rare genetic disorder that requires a multidisciplinary approach to management. While there is no specific drug treatment for EEC3, various medications may be used to address associated symptoms and complications.

Surgical Management

The primary focus of treatment for EEC3 is surgical repair of the cleft lip or palate, as well as correction of any limb abnormalities (ectrodactyly). This may involve multiple surgeries throughout childhood and adolescence [8].

Supportive Care

In addition to surgery, supportive care plays a crucial role in managing the various anomalies associated with EEC3. This may include:

• Orthopedic management to correct limb deformities
• Dental care to address any oral health issues related to cleft lip/palate
• Ophthalmologic evaluation to monitor for eye abnormalities
• Dermatological assessment to manage skin and hair-related symptoms

Medications

While there are no specific medications approved for the treatment of EEC3, various drugs may be used off-label or as part of a multidisciplinary treatment plan. These may include:

• Antibiotics to prevent infections related to cleft lip/palate
• Pain management medications to alleviate discomfort during and after surgery
• Hormone replacement therapy (HRT) in cases where hormonal imbalances contribute to symptoms

Genetic Counseling

Given the genetic nature of EEC3, genetic counseling is essential for families affected by this condition. This can help individuals understand their risk of passing on the disorder to future generations.

It's essential to note that treatment for EEC3 should be tailored to each individual's specific needs and may involve a team of healthcare professionals from various specialties [9].

References:

Differential Diagnosis of EEC Syndrome

The differential diagnosis of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) syndrome involves conditions that present with similar symptoms, such as split-hand/split-foot malformation, clefting of the lip or palate, and other developmental anomalies. Some of these conditions include:

• Split-hand/split-foot malformation: This is a congenital anomaly characterized by the absence or duplication of digits in one or both hands/feet.
• Cleft lip/palate: A condition where there is an opening or split in the upper lip and/or palate (roof of the mouth).
• Ankyloblepharon: A rare genetic disorder that affects the development of the eyelids, causing them to fuse together.
• Other developmental anomalies: Such as polydactyly (extra fingers/toes), syndactyly (webbed fingers/toes), and other congenital malformations.

According to some authors [3], cleft lip ± cleft palate is used as a marker to distinguish EEC from other syndromes like ankyloblepharon. While others include cleft lip/palate in the differential diagnosis of EEC syndrome [5].

References:

• [3] M Koul · 2014 · Cited by 28
• [5] by D Sharma · 2015 · Cited by 23