Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys.[2][3][4]
| Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | |
|---|---|
| Other names | Frydman Cohen Karmon syndrome, Blepharophimosis — ptosis — esotropia — syndactyly — short stature[1] |
 | |
| "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" follows an autosomal recessive inheritance pattern | |
| Specialty | Medical genetics |
| Symptoms | Short stature, minor congenital anomalies, facial dysmorphisms, muscle weakness, blepharophimosis, and ptosis |
Only six cases from three consanguineous families across the world have been reported in medical literature.[5] This disorder follows an autosomal recessive inheritance pattern.[6]
Less commonly, anosmia, moderate intellectual disability, hypertelorism, and increased thickness of lower lips and eyebrows can also appear as symptoms of the syndrome[7]
References
edit- ^ "Blepharophimosis with ptosis, syndactyly, and short stature". 16 June 2022.
- ^ "Blepharophimosis with ptosis, syndactyly, and short stature | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-05-03.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Blepharophimosis ptosis esotropia syndactyly short stature syndrome". www.orpha.net. Retrieved 2022-05-03.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - % 210745 - BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE". omim.org. Retrieved 2022-05-03.
- ^ "reference".
- ^ www.malacards.org https://www.malacards.org/card/blepharophimosis_with_ptosis_syndactyly_and_short_stature. Retrieved 2022-05-03.
{{cite web}}: Missing or empty|title=(help) - ^ "Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome". DoveMed. Retrieved 2022-05-03.
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