FRAXE SYNDROME
\fɹˈaks sˈɪndɹə͡ʊm], \fɹˈaks sˈɪndɹəʊm], \f_ɹ_ˈa_k_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
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hydromorphic
- [Greek] Structurally adapted to an aquatic environment, as organs of water plants.