ELFIN FACIES SYNDROMES
\ˈɛlfɪn fˈe͡ɪsɪz sˈɪndɹə͡ʊmz], \ˈɛlfɪn fˈeɪsɪz sˈɪndɹəʊmz], \ˈɛ_l_f_ɪ_n f_ˈeɪ_s_ɪ_z s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
By DataStellar Co., Ltd
Nearby Words
- elf-bolt
- elf-child
- elf-lock
- elfin
- elfin facies syndrome
- Elfin Facies Syndromes
- elfish
- elfish, elvan
- elfishly
- elfishness
- elfkin