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STS-sEDD contiguous gene

Previously: Recessive X-linked ichthyosis with contiguous gene deletion syndrome

sEDD Gene: STS + others X-linked

Onset: Infancy, rarely at birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Retention scaling.

Additional Cutaneous Features

STS-sEDD-like scaling.

Additional Extracutaneous Features

Variable features of anosmia, hypogonadism (hypogonadotropic hypogonadism, formerly Kallmann syndrome), intellectual and developmental delay (due to larger deletion comprising Xp22.3 including KAL1 (ANOS1) and sometimes other genes).

References

Berges-Raso I, Giménez-Palop O, Gabau E et al. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome. Endocrinol Diabetes Metab Case Rep 2017; 2017:EDM170083. || Diociaiuti A, Angioni A, Pisaneschi E et al. X-linked ichthyosis: clinical and molecular findings in 35 Italian patients. Exp Dermatol 2019: 28:1156-63.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer