Recessive inherited syndrome described with blepharophimosis and ptosis with weakness of extraocular and frontal muscles. Prognathism, synophrys, and thick eyebrows added to a typical facial appearance characterize this medical condition. Additional findings included short stature, borderline head circumference, and toe syndactyly. Borderline mental retardation and anosmia can also be associated. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
Blepharophimosis Ptosis Syndactyly Short Stature Syndrome.
Extremely rare syndrome with unknown incidence.
No genetic background or molecular data concerning this syndrome are available. The mode of inheritance is autosomal recessive, which distinguishes this syndrome from other blepharophimosisptosis syndromes.
Weakness of extraocular and frontal muscles.
Diagnosis is made by the typical facial appearance (combination of blepharophimosis, ptosis, orbital asymmetry), short stature, polysyndactyly of toes 2 and 3, and camptodactyly of the fingers.
In addition to the aforementioned stigmata, the patient may have plagiocephaly, a broad nasal bridge, prognathism, and thick eyebrows with synophrys. In one case, borderline mental retardation and anosmia were reported.
Precautions before anesthesia
No specific considerations concerning this syndrome, and no description of evident impairment of general health is available.
In general, patients are not different from healthy children undergoing the same procedure. However, depending on the degree of prognathism, airway management could be difficult. Oculocardiac reflex with profound bradycardia should be expected, especially in younger patients undergoing ophthalmic examination with general anesthesia. Treatment is twofold and includes firstly, stopping the stimulation and secondly, if still necessary, the administration of anticholinergic drugs. No other specific precautions are required.
No known implications with this condition.
Other conditions to be considered
Other blepharophimosisptosis syndromes, including the following:
☞Blepharophimosis, Epicanthus Inversus, and Ptosis Syndrome (BPES): Hereditary autosomal dominant 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).
☞Blepharoptosis with Myopia and Ectopia Lentis: Extremely rare autosomal dominant genetic disease with features limited to the eye and its appendices.
Blepharoptosis, Ptosis, Syndactyly, and Mental Retardation (Camera-Marugo-Cohen Syndrome): Characterized by blepharoptosis, truncal obesity, syndactyly, camptodactyly, retrognathia, mental retardation, body asymmetry, and muscle weakness. It has been found that one of these patients showed diploid/triploid mixoploidy (69,XXY/46,XY) on cytogenetic analysis of skin fibroblasts. Karyotyping of skin fibroblasts should be performed when the diagnosis of Camera-Marugo-Cohen Syndrome is considered.
☞De Die Smulders-Droog-van Dijk Syndrome: Characterized by blepharophimosis, nasal groove, and growth retardation.
Jorgenson-Lenz Syndrome: Characterized by ...