blepharophimosis-impaired intellectual development syndrome

Blepharophimosis-impaired intellectual development syndrome (BIS) is a rare genetic disorder characterized by distinct facial features and impaired intellectual development.

Facial Features:

• Blepharophimosis, which refers to the partial or complete fusion of the eyelids
• Ptosis, which is drooping of the eyelid
• Facial dysmorphism, which means unusual facial features

Intellectual Development:

• Impaired intellectual development, which can range from mild to severe cognitive impairment
• Delayed motor skills and global developmental delay

Other Characteristics:

• The syndrome is often associated with other congenital anomalies, such as dental hypoplasia (underdeveloped teeth) and hearing impairments.

According to [result 2], BIS is a congenital disorder characterized by a distinct facial appearance with blepharophimosis, ptosis, and impaired intellectual development. [result 4] also describes the syndrome as a genetic disorder characterized by distinct facial features such as blepharophimosis, ptosis, and impaired intellectual development.

It's worth noting that BIS is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals with the syndrome. [result 9] mentions that BIS is a recently discovered syndrome with variants in the SMARCA2 gene.

References: * [result 2] * [result 4] * [result 9]

Blepharophimosis-impaired intellectual development syndrome, also known as BPES, is a rare genetic disorder that affects the eyes and intellect. The signs and symptoms of this condition can vary in severity and may include:

• Narrowing of the eye opening: This is one of the characteristic features of BPES, present at birth [3].
• Ptosis: Drooping eyelids are a common feature of BPES, which can affect both eyes [4].
• Epicanthus inversus: This refers to an abnormal fold of skin on the inner corner of the eye [4].
• Telecanthus: An increased distance between the eyes is another characteristic feature of BPES [4].
• Ectropion: The eyelids may turn outward, which can cause discomfort and vision problems [2].
• Strabismus: Crossed eyes are a common symptom of BPES, affecting both children and adults [2].
• High arched brows: Some individuals with BPES may have high arched eyebrows, which can be a distinguishing feature [4].
• Lopped ears: In some cases, the ears may appear smaller or more rounded than usual [4].

In addition to these physical symptoms, BPES can also affect intellectual development. Individuals with this condition may experience:

• Delayed motor skills: Children with BPES may have delayed motor skills, such as difficulty walking or coordination problems [7].
• Impaired intellectual development: Some individuals with BPES may have impaired intellectual development, which can range from mild to severe [6][7].

It's essential to note that the severity and impact of these symptoms can vary significantly among individuals with BPES. If you suspect someone has this condition, it's crucial to consult a medical professional for an accurate diagnosis and guidance.

References: [1] Not provided (since there is no relevant information on this topic in the search results) [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Not provided (since there is no relevant information on this topic in the search results) [6] Context result 6 [7] Context result 7

Blepharophimosis-impaired intellectual development syndrome (BIS) can be diagnosed through various diagnostic tests, which are aimed at identifying the genetic mutations associated with this condition.

• Sequence analysis of the entire coding region: This test is used to identify mutations in the SMARCA2 gene, which is responsible for BIS. The test involves analyzing the DNA sequence of the SMARCA2 gene to detect any changes or mutations that may be causing the syndrome.
• Next-Generation (NGS)/Massively parallel sequencing (MPS): This is a comprehensive genetic testing method that can identify multiple genes associated with BIS, including SMARCA2. It involves analyzing the DNA sequence of several genes simultaneously to detect any mutations or changes.
• Clinical Molecular Genetics test: This test is specifically designed for diagnosing BIS and other related syndromes. It involves analyzing the DNA sequence of the SMARCA2 gene and other associated genes to identify any mutations or changes.

It's worth noting that establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis [14]. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

References: [3] - Heterozygous mutation in the SMARCA2 gene can also cause Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows some overlapping features, but is considered to be a distinct phenotype. [10] - Clinical Molecular Genetics test for Blepharophimosis-impaired intellectual development syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics.

Blepharophimosis-impaired intellectual development syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, epicanthus inversus, and telecanthus, along with impaired intellectual development. The treatment for BPES generally involves a multidisciplinary approach to address the various aspects of the condition.

Surgical Treatment

• Corrective eyelid surgery is often performed between the ages of 3 to 5 to correct epicanthus inversus and telecanthus [2].
• Surgery may also be necessary to address other facial dysmorphisms associated with BPES.

Hormone Replacement Therapy (HRT)

• Premature ovarian insufficiency, a common feature of BPES, can be managed with HRT to alleviate symptoms [7].

Other Treatments

• Treatment is directed toward promoting visual development and improving cosmesis. Patients should be refracted, and amblyopia and strabismus are common [9].
• Management of other associated conditions, such as seizures, hearing loss, and coarse facies, may also be necessary.

It's essential to note that the treatment approach for BPES is tailored to the individual patient's needs and may involve a team of specialists, including ophthalmologists, geneticists, and endocrinologists.

Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. When considering the differential diagnosis for BIS, several conditions should be taken into account.

• Hereditary Congenital Ptosis 1 and 2: These conditions are characterized by droopy eyelids (ptosis) and can be associated with other symptoms such as impaired intellectual development.
• Ohdo Blepharophimosis Syndrome: This syndrome is a sporadic condition that incorporates blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. It shares some similarities with BIS but has distinct features.
• Michels Syndrome: This rare genetic disorder is characterized by intellectual disability, seizures, and other systemic abnormalities. While it does not specifically involve blepharophimosis, its symptoms can overlap with those of BIS.
• Ptosis: As a standalone condition, ptosis refers to droopy eyelids and can be caused by various factors, including genetic disorders.

It's essential to note that the differential diagnosis for BIS is complex and requires a comprehensive evaluation of the individual's medical history, physical examination, and diagnostic tests. A thorough assessment by a qualified healthcare professional is necessary to accurately diagnose and differentiate these conditions.

References:

• [3] describes BIS as a congenital disorder with blepharophimosis and global development delay.
• [4] lists Hereditary Congenital Ptosis 1 and 2, Ohdo Blepharophimosis Syndrome, Michels Syndrome, and Ptosis as differential diagnoses for BIS.
• [11] mentions Ohdo syndrome as a sporadic condition with blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation.