Am J Med Genet 1998;79:343-6.

We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pill torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bi-lateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular promolars with well formed roots, large dental Pulp spaces, enamel hypoplasia, multipie caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandbular and sublingual salivary duct openings. Palmoplantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual carunclcs, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleftlip and palate syndrome (AEC) are discussed.