blepharophimosis

Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3.

Mutations in FOXL2 cause blepharophimosis ptosis-epicanthus inversus syndrome.

Michels syndrome is a syndrome characterised by mental deficiency, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism.

However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth retardation, and development delay persist, whereas minor face anomalies are less noticeable as the patient grows older.

YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present.

It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly, kyphoscoliosis, and delayed motor development and is often associated with cystic dysplastic kidneys, dextrocardia, Dandy-Walker malformation, and agenesis of corpus callosum".

He defined "lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis" referring to people with broader and flatter nasal bridges, which in turn leads to folds in the skin that cover the inner corners of the eye.

In August 1947 Klein presented a deaf mute child, who was 10 years of age, and had partial albinism of the hair and body, blue, hypoplastic rides, blepharophimosis and malformation of arms, to the Swiss Society of Genetics, and gave a full report of his findings in 1950.