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Inherited syndrome with blepharophimosis, ptosis, short stature, and syndactyly.

Blepharophimosis with Ptosis, Syndactyly, and Short Stature.

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 blepharophimosis-ptosis syndromes.

Weakness of extraocular and frontal muscles.

Diagnosis is made by the typical facial appearance (combination of blepharophimosis, ptosis, orbital asymmetry), short stature, syndactyly 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.

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 blepharophimosis-ptosis syndromes, including the following:

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: 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: Blepharophimosis, nasal groove, and growth retardation.

Jorgenson Lenz Syndrome: Mild short 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, and high and narrow palate. Intelligence is normal. Facies has similarities with the whistling face syndrome (Freeman-Sheldon syndrome).

Frydman M, Cohen HA, Karmon G, et al: Autosomal recessive blepharophimosis, ptosis V-esotropia, syndactyly, and short stature. ...

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