ADNP syndrome

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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PMID (PMCID)
28407407
 MALE
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K.
Am J Med Genet A. 2017;173(6):1631-1634.
Among 17 previously reported patients with Helsmoortel-van der Aa syndrome, one patient exhibited blepharophimosis.