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Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis
G Annerén1, T Andersson, P G Lindgren
1Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clinical Genetics
|October 1, 1991
Summary
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presents with significant variability, often lacking the hallmark ectrodactyly. Early prenatal diagnosis of cleft lip and palate aids genetic counseling for this rare condition.
Area of Science:
- Genetics
- Medical Genetics
- Clinical Medicine
Background:
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare genetic disorder.
- The syndrome typically presents with a characteristic triad of ectrodactyly, ectodermal dysplasia, and cleft lip/palate.
Observation:
- This study presents six patients with EEC syndrome, including a family cluster and a sporadic case.
- Five out of six patients lacked ectrodactyly, a key diagnostic feature, highlighting phenotypic variability.
- Low birth weight, preterm birth, and polysyndactyly (without ectrodactyly) were observed in multiple patients.
Findings:
- The diagnosis of EEC syndrome was challenging due to the absence of ectrodactyly in most affected individuals.
- Low birth weight and polysyndactyly may represent important, albeit non-classical, features of EEC syndrome.
- Prenatal diagnosis of cleft lip and palate via ultrasound was achieved in two family members at 16 weeks gestation.
Implications:
- The findings underscore the significant phenotypic variability of EEC syndrome, necessitating a thorough examination for subtle symptoms in suspected carriers.
- Prenatal diagnosis of orofacial clefts can be crucial for genetic counseling in families with inherited conditions.
- Recognizing atypical presentations is vital for accurate diagnosis and management of EEC syndrome and similar genetic disorders.