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Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
Insights
This study identifies a rare genetic syndrome in females, characterized by intellectual disability, ectodermal dysplasia, and cleft palate. Further research is needed to clarify its inheritance pattern and relationship to other known syndromes.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
- Pediatric Neurology
Background:
- A sibship of 10 individuals presented with a distinct syndrome affecting three females.
- The syndrome includes intellectual disability, ectodermal dysplasia, and orofacial clefts as core features.
Abstract:
Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.