Genetic disease with features limited to the eye and
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
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
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
No known pharmacological
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
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