disease: ADULT syndrome

nameADULT syndrome
descriptionThe TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring and alopecia, hypospadias, trismus, and excessive freckling.
variant-disease NM_003722.5(TP63):c.518G>A (p.Gly173Asp) AND ADULT syndrome
NM_003722.5(TP63):c.1963del (p.Arg655fs) AND ADULT syndrome
NM_003722.5(TP63):c.325-18456A>C AND ADULT syndrome
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) AND ADULT syndrome
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) AND ADULT syndrome
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