Seres-Santamaria Arimany Muniz syndrome
Overview
A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
Symptoms
* Cleft palate * Ankyloblepharon * Adhesions between upper and lower jaws * Cleft lip * Conical teeth * Widely spaced teeth * Missing permanent teeth * Palmar keratoderma * Plantar keratoderma * Peeling skin at birth * Erythematous skin at birth * Eroded skin at birth * Thickened skin * Partial, patchy absence of sweat glands * Partial inability to sweat * Increased skin pigmentation * Absent nails * Dystrophic nails * Wiry hair * Sparse hair * Alopecia * Oval face * Broad nasal bridge * Maxillary hypoplasia * Cleft palate * Ankyloblepharon * Adhesions between upper and lower jaws * Cleft lip * Conical teeth * Widely spaced teeth * Missing permanent teeth * Palmar keratoderma * Plantar keratoderma * Peeling skin at birth * Erythematous skin at birth * Eroded skin at birth * Thickened skin * Partial, patchy absence of sweat glands * Partial inability to sweat * Increased skin pigmentation * Absent nails * Dystrophic nails * Wiry hair * Sparse hair * Alopecia * Oval face * Broad nasal bridge * Maxillary hypoplasia
Diagnosis
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