Inherited syndrome with blepharophimosis, ptosis,
short stature, and syndactyly.
Blepharophimosis with Ptosis, Syndactyly, and Short
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
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
No known implications with this
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
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
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
Frydman M, Cohen HA, Karmon G, et al: Autosomal recessive
blepharophimosis, ptosis V-esotropia, syndactyly, and short stature. ...