Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

TitleAdult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Publication TypeJournal Article
Year of Publication2015
AuthorsPosey, JE, Burrage, LC, Campeau, PM, Lu, JT, Eble, TN, Kratz, L, Schlesinger, AE, Gibbs, RA, Lee, BH, Nagamani, SCS
JournalAm J Med Genet A
Date Published2015 Jun
KeywordsAdult, African Americans, Alopecia, Base Sequence, Cataract, Chondrodysplasia Punctata, Dwarfism, Exome, Female, Genes, X-Linked, Humans, Molecular Sequence Data, Sequence Deletion, Steroid Isomerases

Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As in many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders.

Alternate JournalAm. J. Med. Genet. A
PubMed ID25846959
PubMed Central IDPMC4449285
Grant ListT32 GM007526 / GM / NIGMS NIH HHS / United States
HD024064 / HD / NICHD NIH HHS / United States
U54 HD083092 / HD / NICHD NIH HHS / United States
P30 HD024064 / HD / NICHD NIH HHS / United States
T32 GM07526-37 / GM / NIGMS NIH HHS / United States
P01 HD070394 / HD / NICHD NIH HHS / United States

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