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Genetic disease with features limited to the eye and its appendices.

Extremely rare abnormality, but exact incidence is not known.

Inheritance is autosomal dominant. No genetic background or molecular data are available.

It has been suggested that a connective tissue defect of sclera and zonule, combined with a disinsertion of the levator palpebrae aponeurosis, is the common factor underlying the clinical features.

Presents with the triad of congenital blepharoptosis, high-grade myopia, and ectopia lentis.

Blepharoptosis, abnormally long globes, abnormally long upper eyelids, and a well-maintained function of the levator characterize this syndrome.

No specific anesthetic precautions are required.

Considerations are not different from healthy children undergoing the same procedure. Especially in younger patients undergoing ophthalmic examination under general anesthesia, oculocardiac reflex with profound bradycardia should be expected. The treatment is twofold and includes first stopping the stimulation and second, if still necessary, anticholinergic drugs. No other specific precautions are required.

No known pharmacological implications.

Other blepharophimosis-ptosis syndromes such as the following:

Acro-Fronto-Facio-Nasal Dysostosis Syndrome (Type I and II): Frontonasal dysostosis, retarded growth, and mental development. Brachycephaly, broad notched nasal tip, and cleft lip/palate and macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal phalanges of the hands. Iliac hypoplasia, short legs, and hypospadias.

Blepharoptosis, Ptosis, and Epicanthus Inversus Syndrome: Hereditary syndrome affecting the eyelids with the clinical symptom triad of blepharophimosis, ptosis, and epicanthus inversus (fold curving in the mediolateral direction inferior to the inner canthus).

Frydman Cohen Karmon Syndrome: Inherited syndrome with blepharophimosis, ptosis, short stature, and syndactyly.

De Die Smulders-Droog-Van Dijk Syndrome: Blepharophimosis, nasal groove, and growth retardation.

Jorgenson-Lenz Syndrome: Mildly shortened stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, prognathism, restricted joint mobility, and radioulnar synostosis. The name of this syndrome is based on a single paper.

Ohdo-Madokoro-Sonoda Syndrome (Blepharophimosis Syndrome, Ohdo Type): Blepharophimosis, ptosis, mental retardation, congenital heart disease, and hypoplastic teeth.

Simosa-Penchaszadeh-Bustos Syndrome (Simosa Craniofacial Syndrome; Blepharophimosis Telecanthus Microstomia Syndrome): High forehead, elongated and flattened face, arched and sparse eyebrows, short palpebral fissures. Microstomia, high and narrow palate. Intelligence normal. Facies similar to the “whistling face syndrome” (Freeman-Sheldon syndrome (FSS)). Potential difficult airway management.

Gillum WN, Anderson RL: Dominantly inherited blepharoptosis, high myopia, and ectopia lentis. Arch Ophthalmol 100:282, 1982.  [PubMed: 6978128]

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