IllnessBlepharophimosis-Ptosis-Epicanthus inversus syndrome, differential diagnosis

[NGS] +

[Sanger]

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a condition that mainly affects the development of the eyelids and causes also telecanthus. Because the eyelids cannot be fully opened, vision may be impaired. Other structures in the eyes and face may also be slightly affected by BPES. The patients have an increased risk of developing nearsightedness or farsightedness, strabismus, or amblyopia in childhood. People with BPES may also show certain facial features, such as a wide bridge of the nose, low-set ears or a short philtrum. Two types of BPES are distinguished based on their symptomatology. In both types, the eyelid malformations and other facial features are present. Type I is also associated with primary ovarian failure, subfertility or infertility. FOXL2 mutations cause both BPES types I and II. Partial loss of FOXL2 protein function generally causes BPES type II. Mutations that result in complete loss often cause BPES type I and affect, both, eyelid development and ovarian activity. Familial BPES is inherited in an autosomal dominant manner, isolated cases develop based on new mutations. The DNA diagnostic yield in the FOXL2 gene is >80%, but a negative result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1441/

• Allelic: Congenital heart defects, multiple types, 4 (NR2F2)
• Allelic: Premature ovarian failure 3 (FOXL2)
• 3MC syndrome 1 (MASP1)
• 46,XX sex reversal 5 (NR2F2)
• Blepharophimosis, epicanthus inversus, ptosis, type 1 (FOXL2)
• Blepharophimosis, epicanthus inversus, ptosis, type 2 [no POI] (FOXL2)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Genitopatellar syndrome (KAT6B)
• Koolen-De Vries syndrome (KANSL1)
• Marden-Walker syndrome (PIEZO2)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 2 + 10 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• SBBYSS [Say-Barber-Biesecker-Young-Simpson, variant of Ohdo] syndrome (KAT6B)
• Schwartz-Jampel syndrome, type 1 (HSPG2)
• Smith-Lemli-Opitz syndrome (DHCR7)