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EEC syndrome
ICD-10 Codes
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Description
EEC syndrome, also known as Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate syndrome, is a rare genetic developmental disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate) [2][7].
Key Features:
- Ectrodactyly: A congenital abnormality involving the absence of some fingers or toes, also known as lobster-claw deformity of the limbs [5].
- Ectodermal dysplasia: A condition affecting the skin, hair, nails, teeth, and sweat glands [1][4].
- Orofacial clefts: Cleft lip and/or palate, which can range from mild to severe [3][8].
Additional Features:
- Vesicoureteral reflux (a condition where urine flows backward from the bladder into the kidneys) has been noted in association with EEC syndrome [6].
- Other symptoms may include labial clefting, facial abnormalities, and developmental delays.
EEC syndrome is an inherited malformation, meaning it can be passed down from parents to their children. It is a rare autosomal dominant disorder, affecting approximately 1 in every 50,000 births [9].
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Characteristics
- Orofacial clefts
- Ectrodactyly
- Ectodermal dysplasia
Signs and Symptoms
Variable Expression of EEC Syndrome
EEC syndrome, also known as Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate syndrome, is a rare genetic disorder characterized by highly variable symptoms, even among family members. The variability in symptoms is due to different mutations of the TP63 gene.
Common Symptoms:
- Ectrodactyly: Missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation)
- Abnormalities of hair and glands: Sparse, brittle or missing hair; absent or malformed finger- and toenails
- Cleft lip and/or palate: Cleft lip with or without cleft palate, which can result in speech defects
- Distinctive facial features: Abnormalities of the eyes and urinary tract may also be present
Additional Symptoms:
- Changes in skin pigmentation (e.g., hypopigmentated and dry skin, hyperkeratosis, skin atrophy)
- Sensitivity to heat
- Malformed or missing teeth
- Ectodermal dysplasia (ED), which affects the skin, hair, nails, and other ectodermal structures
References:
- [1] The three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities in several ectodermal structures.
- [2] Individuals with EEC syndrome can also develop a variety of symptoms that affect the skin, hair, nails, teeth, certain glands, and the hands and feet.
- [3] The most common symptoms found in patients with EEC syndrome are missing or irregular fingers and/or toes (ectrodactyly), abnormalities of hair and glands, cleft lip and/or palate, distinctive facial features, and abnormalities of the eyes and urinary tract.
Note: The symptoms listed above may vary from mild to severe.
Additional Symptoms
- Distinctive facial features
- Ectrodactyly
- or palate
- Abnormalities of hair and glands
- Changes in skin pigmentation
- Sensitivity to heat
- Malformed or missing teeth
- Ectodermal dysplasia (ED)
Diagnostic Tests
EEC (Ectrodactyly, Ectodermal Dysplasia, and Clefting) syndrome can be diagnosed through various diagnostic tests.
Blood Test: A blood test can be used to diagnose EEC syndrome by performing a genetic test. This test can detect mutations in the TP63 gene or chromosomal abnormalities that are associated with the condition [1][3].
Molecular Genetic Testing: Molecular genetic testing is a more accurate method of diagnosing EEC syndrome. It involves detecting mutations in the TP63 gene or chromosomal abnormalities, which can confirm the diagnosis [2][3].
Clinical Diagnosis: A clinical diagnosis of EEC syndrome can be made by a physician or dentist based on the medical signs displayed during a physical examination [4]. This method is not 100% accurate and may require further testing to confirm the diagnosis.
Imaging Tests: Imaging tests such as renal ultrasonography, voiding cystourethrography, and intravenous pyelography may be helpful in evaluating children with ectodermal dysplasia [5].
Electron Microscopic Studies: Electron microscopic studies of hair shafts can reveal longitudinal ridging, which is a characteristic feature of EEC syndrome [6].
In some cases, diagnosis can be made prenatally through ultrasound evaluation, as seen in the case reported by Savukyne et al. [7]. Molecular genetic testing for TP63 gene mutations can also confirm the diagnosis [8].
References: [1] Context 1 [2] Context 3 [3] Context 3 and Context 9 [4] Context 5 [5] Context 6 [6] Context 7 [7] Context 8 [8] Context 9
Additional Diagnostic Tests
- Imaging Tests
- Blood Test
- Molecular Genetic Testing
- Clinical Diagnosis
- Electron Microscopic Studies
Treatment
The treatment for Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC) syndrome involves surgical correction of the cleft lip and palate, as well as treatment of any associated dental or facial abnormalities.
- Surgical correction of the cleft lip and palate is typically performed in early childhood to improve speech and feeding abilities [5].
- Management also involves treatment of any associated dental or facial abnormalities, such as missing teeth or a flat nasal tip [6].
- The treatment for EEC syndrome is essentially the same as for AEC (Anonychia-Ectodermal Clefting) syndrome [7].
It's worth noting that while there are no specific "drugs" mentioned in the search results as a treatment for EEC syndrome, researchers have been exploring new therapeutic strategies using siRNA to treat oral mucosa cells and direct them to form cornea cells for transplantation [8]. However, this is still an area of ongoing research.
References: [5] - #9 [6] - #6 [7] - #7 [8] - #8
Recommended Medications
- siRNA
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for EEC Syndrome
EEC (ectrodactyly, ectodermal dysplasia, cleft lip/palate) syndrome is a rare genetic disorder that can be challenging to diagnose. To determine the correct diagnosis, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for EEC syndrome:
- Alopecia Areata: This autoimmune condition causes hair loss on the scalp or body, which can be mistaken for ectodermal dysplasia in EEC syndrome.
- Aplasia Cutis Congenita: A rare congenital disorder characterized by a lack of skin and underlying tissues, which may resemble ectrodactyly in EEC syndrome.
- Focal Dermal Hypoplasia Syndrome: Also known as Goltz syndrome, this condition affects the development of skin, bones, and other tissues, leading to similar symptoms as EEC syndrome.
- Incontinentia Pigmenti: A genetic disorder that affects the development of the skin, hair, teeth, and nails, which can be confused with ectodermal dysplasia in EEC syndrome.
- Naegeli-Franceschetti-Jadassohn Syndrome: A rare genetic disorder characterized by skin lesions, cleft lip/palate, and other symptoms that may resemble those of EEC syndrome.
According to [5], these conditions should be considered as differential diagnoses for EEC syndrome. Additionally, [10] mentions epidermolysis bullosa simplex, disorders of cornification, CHAND syndrome, and hypohidrotic ectodermal dysplasia as other possible differential diagnoses.
It's essential to note that a comprehensive diagnosis of EEC syndrome requires a multidisciplinary approach, including genetic analysis, clinical examination, and imaging studies. [4] highlights the importance of genetic analysis in diagnosing EEC syndrome accurately.
Additional Differential Diagnoses
Additional Information
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