nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
MONDO:0017672
focal palmoplantar keratoderma
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0019289
hyperpigmentation of the skin
is_a
ECTDS
related
ectodermal dysplasia-short stature syndrome
exact
ectodermal dysplasia/short stature syndrome
related
short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
exact