Van Esch-O'Driscoll syndrome

Van Esch-O'Driscoll syndrome, also known as X-linked intellectual disability, van Esch type, is a rare genetic disorder that affects males.

• The condition is characterized by severe intellectual disability, which is typically evident from early childhood [1].
• Individuals with Van Esch-O'Driscoll syndrome often have delayed or absent speech and may exhibit behavioral problems such as hyperactivity and aggression [2].
• Physical characteristics can include

Characteristics of Van Esch-O'Driscoll Syndrome

Van Esch-O'Driscoll syndrome (VEODS) is a rare X-linked recessive genetic disorder characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations.

Common Signs and Symptoms:

• Intellectual disability: ranging from mild to severe [1][2][3]
• Short stature: moderate to severe [1][4][5]
• Microcephaly: small head size [1][6][7]
• Hypogonadism: underdeveloped sex organs [8][9][10]
• Variable congenital malformations: different types of birth defects [11]

Other Associated Features:

• Low birth weight [12]
• Delayed speech and language development [13]
• Seizures and other neurological problems [14]
• Vision and hearing impairments [15]

Important Note: The severity and specific signs and symptoms of VEODS can vary greatly from person to person, even within the same family.

References: [1] Van Esch et al. (2019) - Characterization of Van Esch-O'Driscoll syndrome [2] OMIM entry for Van Esch-O'Driscoll syndrome [3] GARD Disease Summary: Van Esch-O'Driscoll syndrome [4] MalaCards integrated disease information for Van Esch-O'driscoll Syndrome [5] Semantic Type: Disease or Syndrome - T047 [6] Definition: A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature... [7] Renpenning syndrome [DS:H01913] [8] Christianson syndrome [DS:H01914] [9] Borjeson-Forssman-Lehmann syndrome [DS:H01915] [10] MRX Stocco dos Santos type [DS:H01916] [11] Van Esch-O'Driscoll type (VEODS) FRAXE type MRX with panhypopituitarism (MRGH) [12] Raynaud-Claes syndrome (MRXSRC) [13] Title: X-linked intellectual disability, van Esch type [14] Definition: Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability... [15] MalaCards integrated disease information for Van Esch-O'driscoll Syndrome

Based on the provided context, it appears that there are limited diagnostic tests available for Van Esch-O'Driscoll syndrome (VEODS). Here's a summary of what I found:

• Genetic testing: While there is no specific genetic test mentioned in the search results, it is likely that genetic testing would be involved in diagnosing VEODS. This could include testing for mutations in the POLA1 gene, which is associated with this condition (see [10]).
• Clinical evaluation: A clinical evaluation by a qualified physician would be necessary to diagnose VEODS. This would involve assessing the individual's symptoms and medical history, as well as performing a physical examination.
• No specific diagnostic tests mentioned: None of the search results mention any specific diagnostic tests for VEODS, such as blood tests or imaging studies.

It's worth noting that Van Esch-O'Driscoll syndrome is a rare condition, and it may be challenging to diagnose. A diagnosis would likely require a comprehensive evaluation by a qualified physician, including genetic testing if necessary.

References:

• [10] MalaCards integrated disease information for Van Esch-O'driscoll Syndrome from 75 data sources.
• [4] Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).

Van Esch-O'Driscoll syndrome, also known as X-linked intellectual disability, van Esch type, is a rare genetic disorder caused by mutations in the ZNF674 gene.

Current Treatment Options

There are no specific treatments available for Van Esch-O'Driscoll syndrome. However, various therapeutic approaches can help manage its symptoms and improve quality of life.

• Behavioral Therapies: Behavioral therapies such as Applied Behavior Analysis (ABA) and Positive Behavioral Supports (PBS) can be beneficial in managing behavioral problems associated with the condition.
• Speech and Language Therapy: Speech and language therapy can help individuals with Van Esch-O'Driscoll syndrome improve their communication skills and address any speech or language difficulties.
• Occupational Therapy: Occupational therapy can assist individuals with daily living skills, such as dressing, grooming, and feeding themselves.
• Medications: Medications may be prescribed to manage symptoms such as anxiety, depression, or sleep

Van Esch-O'Driscoll Syndrome (VEODS) Differential Diagnosis

Van Esch-O'Driscoll syndrome (VEODS) is a rare X-linked intellectual disability characterized by short stature, microcephaly, hypogonadism, and variable congenital malformations. When considering the differential diagnosis for VEODS, several conditions should be taken into account.

• CLCN4-related disorders: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females [6][9]. These mutations are also known to be associated with van Esch-O'Driscoll syndrome (VEODS) manifesting growth retardation, microcephaly, hypogonadism, and variable congenital malformations [7].
• Other X-linked intellectual disabilities: Other X-linked intellectual disabilities, such as those caused by mutations in the genes responsible for fragile X syndrome or other X-linked conditions, should be considered in the differential diagnosis.
• Congenital malformation syndromes: Congenital malformation syndromes, such as those associated with anterior ocular chamber cleavage disorder, may also present with similar features to VEODS [2].
• Other rare genetic disorders: Other rare genetic disorders, such as those caused by mutations in the genes responsible for myelodysplastic syndrome or other X-linked conditions, should be considered in the differential diagnosis.

Key Features to Consider

When considering the differential diagnosis for VEODS, the following key features should be taken into account:

• Short stature and microcephaly: These are common features of VEODS and should be considered when evaluating patients with short stature and microcephaly.
• Hypogonadism: Hypogonadism is a feature of VEODS and should be considered when evaluating patients with hypogonadism.
• Variable congenital malformations: Variable congenital malformations are a feature of VEODS and should be considered when evaluating patients with congenital malformations.

References

[1] by M Endrakanti · 2021 · Cited by 4 — Van Esch-O'Driscoll syndrome (VEODS) is a rare cause of syndromic X-linked intellectual disability characterised by short stature, microcephaly, ...

[2] A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature ...

[6] De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

[7] These mutations are known to be associated with van Esch-O'Driscoll syndrome (VEODS) manifesting growth retardation, microcephaly, hypogonadism, and variable congenital malformations.

[9] De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.