ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome: A Rare Genetic Disorder

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome is a rare genetic disorder characterized by the triad of ectrodactyly (developmental anomalies of the limbs), ectodermal dysplasia (abnormalities of structures derived from the embryonic ectoderm), and orofacial clefts (cleft lip/palate) [1][2].

Symptoms and Features

The symptoms and features of this syndrome can vary greatly from one person to another. However, some common features include:

• Ectrodactyly: Developmental anomalies of the limbs, such as missing or extra fingers/toes
• Ectodermal dysplasia: Abnormalities of structures derived from the embryonic ectoderm, including epidermal, mammary, pituitary, and sweat glands
• Orofacial clefts: Cleft lip/palate, which can range from a small notch in the upper lip to a complete separation of the lip and palate

Other features that may be associated with this syndrome include vesicoureteral reflux (a condition where urine flows backward from the bladder into the kidneys), and other congenital anomalies [3][4].

Inheritance Pattern

This syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder. This means that if one parent has the mutation, each child has a 50% chance of inheriting it [5].

References:

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

[2] EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

[3] Other features noted in association with EEC include vesicoureteral reflux and other congenital anomalies.

[4] Ectrodactyly-ectodermic dysplasia-cleft lip/palate (EEC) syndrome is a rare congenital anomaly of inherited origin and varying clinical features.

[5] Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or other associated anomalies.

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

EEC syndrome is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and cleft lip/palate. The cardinal signs of this syndrome include:

• Ectrodactyly: A congenital defect where one or more fingers or toes are missing or partially developed [3]. This can affect any digit on the hands or feet.
• Cleft Lip/Palate: A birth defect where there is a gap in the upper lip and/or palate (roof of the mouth) [3].
• Ectodermal Dysplasia: Abnormalities affecting the skin, hair, teeth, nails, sweat glands, and other ectodermal tissues [6].

In addition to these cardinal signs, individuals with EEC syndrome may also experience:

• Abnormalities of the genitourinary system [1]
• Eye abnormalities, such as ankyloblepharon (fused eyelids) [5]
• Mild to severe skin erosion, particularly on the hands and feet [9]

The severity and expression of these symptoms can vary widely among individuals with EEC syndrome.

Diagnostic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome (EEC syndrome) is a rare genetic disorder that affects the development of various body systems. Diagnostic tests play a crucial role in confirming the presence of this condition.

Clinical Tests

• Prenatal Diagnosis: EEC syndrome can be suspected based on identification of ectrodactyly, cleft lip/palate, and other characteristic symptoms during prenatal ultrasound examination [1].
• Genetic Testing: Genetic testing searches for changes in your genes that cause medical problems like ectodermal dysplasias. However, there's not a universal test that can diagnose EEC syndrome specifically [5].

Molecular Genetics Tests

• Clinical Evaluation: A diagnosis of EEC syndrome is based on identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation [2].
• X-rays and Imaging Studies: X-rays of the limbs and jaw, as well as kidney ultrasound and ophthalmologic studies, may be performed to confirm the presence of associated features [3].

Other Diagnostic Methods

• Electron Microscopic Studies: Electron microscopic studies of hair shafts reveal longitudinal ridging, which is a characteristic feature of EEC syndrome [6].
• Case Reports and Research Studies: Case reports and research studies have documented prenatal diagnosis of EEC syndrome in fetuses with cleft lip and polycystic kidney [7].

References

[1] Testing is available only on a clinical basis. Prenatal diagnosis of EEC syndrome can be suspected based upon identification of ectrodactyly, cleft lip/palate ...

[2] A diagnosis of EEC syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of ...

[3] The diagnosis is based on clinical examination, X-rays of the limbs and jaw, and, according to the associated features, kidney ultrasound, ophthalmologic ...

[5] Genetic testing searches for changes in your genes that cause medical problems like ectodermal dysplasias. However, there's not a universal test that can ...

[6] Diagnosis is usually made by assessment of the clinical features either at, or soon after birth. Electron microscopic studies of hair shafts reveal longitudinal ...

[7] by H Biwei · 2022 · Cited by 3 — Frontiers | Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

Overview of Drug Treatment

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 (EEC syndrome) is a rare genetic disorder that affects multiple systems in the body. While there is no specific cure for EEC syndrome, various treatments are available to manage its symptoms.

Current Treatment Options

According to the National Organization for Rare Disorders (NORD), the treatment for EEC syndrome largely involves managing the various anomalies and involves a team of healthcare professionals [6]. The management of this condition requires expertise from various medical and surgical specialties, including orthopedics, plastic surgery, and oral surgery.

Specific Treatments

Some specific treatments that may be used to manage the symptoms of EEC syndrome include:

• Surgical correction of the cleft lip and palate defects [10]
• Treatment of any associated anomalies, such as limb abnormalities or dental issues
• Management of ectrodactyly through surgical or orthopedic interventions

Supportive Care

In addition to these specific treatments, supportive care is also an essential part of managing EEC syndrome. This may include:

• Regular follow-up appointments with healthcare professionals to monitor the condition and address any concerns
• Pain management and other symptom relief measures as needed
• Emotional support and counseling for individuals and families affected by this rare disorder

References

[6] NORD rare disease drug - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [10] The management of the EEC syndrome requires expertise from various medical and surgical specialties.

The differential diagnosis for EEC (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) syndrome involves conditions that present with similar symptoms. Some of these conditions include:

• Ankyloblepharon-ectodermal dysplasia-cleft lip / palate (AEC): This is a genetic disorder characterized by ankyloblepharon (fused eyelids), ectodermal dysplasia, and cleft lip/palate. It is also associated with mutations in the TP63 gene [6].
• Split-hand/split-foot malformation: This condition presents with anomalies of the hands and feet, similar to ectrodactyly. However, it does not typically involve cleft lip/palate or ectodermal dysplasia [6].
• Other syndromes: EEC syndrome can be distinguished from other syndromes such as ankyloblepharon by the presence of cleft lip ± cleft palate [2].

It's worth noting that differential diagnosis is a complex process and requires careful evaluation of individual symptoms and medical history. A thorough examination and diagnostic testing are necessary to accurately diagnose EEC syndrome.

References: [1] Not provided (user query) [2] by M Koul · 2014 · Cited by 28 [6] by D Malvankar · 2012 · Cited by 8