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Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report
Kotb Abbass Metwalley Kalil1, Hekma Saad Fargalley
1Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt. kotb72@yahoo.com.
Insights
This case report details a rare association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly in an infant. Early diagnosis is crucial for managing this rare condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome is defined by a triad of limb malformations, ectodermal abnormalities, and facial clefts.
- Holoprosencephaly is a congenital disorder resulting from incomplete separation of the forebrain.
Purpose of the Study:
- To report a rare co-occurrence of ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly.
- To highlight the diagnostic and management considerations for this rare combination.
Main Methods:
- Case presentation of an 11-month-old Egyptian female infant.
- Clinical examination revealing ectrodactyly, ectodermal dysplasia, and cleft lip/palate.
- Diagnostic imaging using computerized tomography (CT) to confirm holoprosencephaly.
Main Results:
- The infant presented with growth parameters below the third centile.
- Physical examination confirmed bilateral ectrodactyly, dry skin, sparse hair, and a history of cleft lip and palate repair.
- CT scan revealed holoprosencephaly.
Conclusions:
- The association between these two conditions is exceptionally rare.
- Emphasizes the need for early diagnosis and a multidisciplinary approach for effective management.
Introduction:
Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome.
Case Presentation:
An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth; the pregnancy and perinatal history were uneventful. On examination, her growth parameters were below the third centile, she had bilateral ectrodactyly of both hands and feet, dry rough skin, sparse hair of the scalp and operated right cleft lip and cleft palate. Computerized tomography of her brain revealed holoprosencephaly.
Conclusion:
The importance of the early diagnosis of this syndrome should be emphasized in order to implement a multidisciplinary approach for proper management of such cases.
