female-restricted syndromic X-linked intellectual disability 99

Female-Restricted Syndromic X-Linked Intellectual Disability 99 (MRXS99F)

Female-restricted syndromic X-linked intellectual disability 99, also known as MRXS99F, is a rare genetic disorder that affects females. It is characterized by delayed psychomotor development and mild to moderate intellectual disability.

Key Features:

• Delayed psychomotor development
• Mild to moderate intellectual disability
• Wide range of additional congenital anomalies, including:
  • Scoliosis
  • Postaxial polydactyly
  • Mild cardiac or urogenital anomalies
• Dysmorphic facial features, such as:
  • Facial asymmetry
  • Prominent forehead
  • Short palpebral fissures
  • Low nasal bridge
  • Smooth and long philtrum
  • Thin upper lip
  • Low-set, posteriorly rotated, dysplastic ears

Causes:

• Heterozygous mutations in the USP9X gene on chromosome Xp11.4 are associated with MRXS99F.
• Skewed X-chromosome inactivation is also a contributing factor.

References:

• [1] Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies ...
• [4] A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females.
• [10] An important gene associated with Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted is USP9X (Ubiquitin Specific Peptidase 9 X-Linked). Affiliated tissues include brain and heart, and related phenotypes are global developmental delay and ventriculomegaly

Characteristics of Female-Restricted Syndromic Intellectual Disability 99

Female-restricted syndromic intellectual developmental disorder-99 (MRXS99F) is a rare genetic condition that affects females. The symptoms can vary in severity and may include:

• Delayed psychomotor development: Affected females may experience delays in reaching milestones such as sitting, standing, or walking [1].
• Mild to moderate intellectual disability: Individuals with MRXS99F may have difficulties with learning, reasoning, and problem-solving skills [2].
• Additional congenital anomalies: Females with this condition may be born with various physical abnormalities, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies [3].
• Speech impairment: Affected females may experience difficulties with speech development and articulation [4].

Other reported manifestations

Additional symptoms that have been reported in individuals with MRXS99F include:

• Short stature
• Choanal atresia (a congenital defect of the nasal passages)
• Congenital ocular, dental, cardiac, and urogenital anomalies

It's essential to note that each individual may experience a unique combination of symptoms, and the severity can vary widely.

References

[1] Context result 1: Delayed psychomotor development is a characteristic feature of MRXS99F. [2] Context result 3: Individuals with MRXS99F may have mild to moderate intellectual disability. [3] Context result 4: Females with this condition may be born with various physical abnormalities, including scoliosis and postaxial polydactyly. [4] Context result 7: Affected females may experience difficulties with speech development and articulation.

Diagnostic Tests for Female-Restricted Syndromic X-Linked Intellectual Disability 99

Female-restricted syndromic X-linked intellectual disability 99 (MRXS99F) is a rare genetic disorder characterized by delayed psychomotor development, mild to moderate intellectual disability, and various congenital anomalies. Accurate diagnosis of this condition is crucial for providing appropriate medical care and management.

Recommended Diagnostic Tests:

• Chromosomal Microarray (CMA): A recommended first-line test for developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) of unknown etiology [7]. CMA can help identify genetic abnormalities, including deletions or duplications, that may contribute to MRXS99F.
• Next Generation Sequencing (NGS)-based Multigene Panel: This test can analyze multiple genes simultaneously, including the USP9X gene associated with MRXS99F. A combination of CMA and NGS-based multigene panel testing may provide a comprehensive genetic evaluation [6].
• Genetic Testing for USP9X Gene: Molecular genetic testing approaches can include targeted sequencing or deletion/duplication analysis of the USP9X gene, which is associated with MRXS99F. This test can help confirm the diagnosis and identify pathogenic variants [5].

Clinical Evaluation:

A consultation and evaluation with a clinical genetic specialist are essential for accurate diagnosis and management of MRXS99F. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis [3]. A thorough medical history, physical examination, and review of developmental milestones can provide valuable information for diagnosis.

Diagnostic Yield:

The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital, and country [2]. It is essential to consider these factors when interpreting test results.

References:

[1] Context result 3 [2] Context result 2 [3] Context result 3 [5] Context result 6 [6] Context result 6 [7] Context result 7

Based on the provided context, it appears that there are limited treatment options available for female-restricted syndromic X-linked intellectual disability 99 (MRXS99F). However, some information is available regarding potential treatments.

• Anticonvulsant medication: In patients with seizures associated with MRXS99F, anticonvulsant medication may be required [6].
• Behavioral disturbances and hypogonadism: Medication may also be necessary to manage behavioral disturbances and/or hypogonadism in affected individuals [6].

It's essential to note that there is no known treatment for the general disorder of MRXS99F, but individual anomalies or defects such as atrial septal defects, cleft palate, and others may require specific treatments [7].

Additionally, some research has been conducted on potential treatments for related conditions. For example, an open-label trial of valproic acid (VPA) was conducted to treat ADHD symptoms in Fragile X syndrome (FXS), which is a related condition [4]. However, it's unclear whether this treatment would be effective or applicable to MRXS99F.

It's also worth mentioning that zatolmilast (BPN14770), an investigational drug for Fragile X syndrome (FXS), has shown progress in development [5]. While this is not a direct treatment for MRXS99F, it may provide some insight into potential therapeutic approaches for related conditions.

Please note that these findings are based on the provided context and should be interpreted with caution. It's essential to consult with medical professionals for accurate and up-to-date information on treatment options for MRXS99F.

References: [4] - Apr 7, 2015 [5] - Jul 18, 2024 [6] - [7] -

Based on the provided context, the differential diagnosis for female-restricted syndromic X-linked intellectual disability 99 (MRXS99F) includes:

• Börjeson-Forssman-Lehmann syndrome
• Wilson-Turner syndrome
• Smith-Fineman-Myers syndrome

These conditions are mentioned in search result [2] as part of the differential diagnosis for MRXS99F.

Additionally, other forms of X-linked intellectual disability (ID) may also be considered when the family inheritance is suggestive. A panel of tests can be ordered to diagnose these conditions.

It's worth noting that the diagnosis of MRXS99F can be established by detection of alpha thalassemia, identification of ATRX gene mutations, characteristic changes in DNA methylation, and ATR-X syndrome (search result [7]).

Sources: * Search result [2] * Search result [7]