Medicine:Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
From HandWiki
Short description: Very rare genetic disorder
| Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | |
|---|---|
| Other names | Frydman Cohen Karmon syndrome, Blepharophimosis — ptosis — esotropia — syndactyly — short stature[1] |
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| "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 |
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]
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
- ↑ "Blepharophimosis with ptosis, syndactyly, and short stature". 16 June 2022. https://rarediseases.org/gard-rare-disease/blepharophimosis-with-ptosis-syndactyly-and-short-stature/.
- ↑ "Blepharophimosis with ptosis, syndactyly, and short stature | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/905/blepharophimosis-with-ptosis-syndactyly-and-short-stature.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Blepharophimosis ptosis esotropia syndactyly short stature syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2057.
- ↑ "OMIM Entry - % 210745 - BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE" (in en-us). https://omim.org/entry/210745.
- ↑ "reference". https://rarediseases.oscar.ncsu.edu/disease/blepharophimosis-ptosis-esotropia-syndactyly-short-stature-syndrome/about/.
- ↑ "Error: no
|title=specified when using {{Cite web}}". https://www.malacards.org/card/blepharophimosis_with_ptosis_syndactyly_and_short_stature. - ↑ "Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome" (in en). http://www.dovemed.com/diseases-conditions/blepharophimosis-ptosis-esotropia-syndactyly-short-stature-syndrome/.
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