MEND syndrome

MEND syndrome, also known as Male EBP disorder with neurologic defects (MEND), is a rare genetic condition that affects males. It is characterized by skin manifestations, including:

• Collodion membrane [5]
• Ichthyosis [5]

In addition to these skin symptoms, MEND syndrome is associated with various other clinical features, such as:

• Bulbous nose
• High palate
• Long neck
• Midface retrusion
• Narrow palpebral fissure
• Prominent nasal bridge
• Redundant neck skin
• Smooth philtrum [2]

MEND syndrome is an X-linked recessive disorder that affects sterol biosynthesis, leading to neurologic defects. It can also cause intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities [4].

In some cases, MEND syndrome has been associated with a Dandy-Walker-like congenital brain malformation, cataracts, collodion skin, and cryptorchidism, along with hydrocephalus and dysplasia of the corpus callosum [7]. Additionally, it can cause cerebellar hypoplasia and hypotonia [8].

References:

[1] Not available in context [2] Provided in context as a list of clinical features [3] Not available in context [4] Provided in context as a description of MEND syndrome [5] Provided in context as a description of MEND syndrome [6] Not available in context [7] Provided in context as a description of MEND syndrome [8] Provided in context as a description of MEND syndrome

MEND syndrome, also known as Methylsterol biosynthesis disorder, is a rare genetic condition that affects males. The signs and symptoms of this syndrome can vary in severity and presentation, but here are some common characteristics:

• Skin manifestations: Affected individuals may experience skin problems such as collodion membrane, ichthyosis (dry, scaly skin), and patchy hypopigmentation (skin discoloration).
• Neurological involvement: MEND syndrome is associated with severe neurological symptoms, including:
  • Intellectual disability [1]
  • Delayed psychomotor development [2]
  • Seizures [3]
  • Hydrocephalus (fluid accumulation in the brain) [4]
  • Cerebellar/corpus callosum hypoplasia (underdevelopment of certain brain structures) [5]
• Other common characteristics: People with MEND syndrome may also experience:
  • Behavioral issues, including autism spectrum disorder or autistic-like traits [6]
  • Decreased perception of pain [7]

It's essential to note that the severity and presentation of these symptoms can vary significantly from one individual to another. If you suspect someone has MEND syndrome, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and proper care.

References: [1] Context 2 [2] Context 2 [3] Context 2 [4] Context 2 [5] Context 2 [6] Context 6 [7] Context 6

Diagnostic Tests for MEND Syndrome

MEND syndrome, also known as Male EBP disorder with neurologic defects, is a rare genetic disorder that affects males. The diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes.

• Genetic Testing: Genetic testing is the primary method of diagnosing MEND syndrome. A blood test can be used to extract genomic DNA from which mutations in the EBP gene can be identified [9].
• Physical Exam: Regular physical exams, ideally twice a year, are essential for monitoring the progression of symptoms and detecting any potential complications [6].
• Imaging Studies: Imaging studies such as computed tomography (CT) scans may be used to rule out other conditions that may present with similar symptoms.

It's worth noting that MEND syndrome is often associated with other conditions, such as Conradi-Hünermann syndrome. In these cases, a blood test can confirm the diagnosis of Conradi-Hünermann syndrome [5].

References:

[5] - A blood test can confirm the diagnosis of Conradi-Hünermann syndrome. [6] - Regular physical exams are essential for monitoring the progression of symptoms and detecting any potential complications. [9] - Genetic testing is the primary method of diagnosing MEND syndrome.

Treatment Options for MEND Syndrome

MEND syndrome, also known as male EBP disorder with neurological defects, is a rare genetic condition that affects males and is characterized by skin manifestations and severe neurological involvement.

• Emollients and Keratolytics: Topical administration of emollients and keratolytics, such as ammonium lactate 12% and petrolatum ointment, may be used to treat skin lesions associated with MEND syndrome [9].
• Lovastatin: Lovastatin, a cholesterol-lowering medication, has been used topically to treat skin manifestations in patients with MEND syndrome [10].
• Haloperidol: However, treatment with haloperidol, which has a high affinity for the DHCR7 substrate binding site, may exacerbate the biochemical sterol abnormalities associated with MEND syndrome [5].

Important Note

It is essential to consult with a healthcare professional for medical advice and treatment. The information provided on this page is for informational purposes only and should not be used as a basis for diagnosis or treatment.

References:

[9] - Treatment of skin lesions includes the use of emollients and keratolytics (i.e. ammonium lactate 12%, petrolatum ointment). Topical administration of lovastatin ... [5] - by MJM Nowaczyk · 2020 · Cited by 63 — Treatment with haloperidol, which has a high affinity for the DHCR7 substrate binding site, may exacerbate the biochemical sterol abnormalities ... [10] - MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker ...

MEND syndrome, also known as Male EBP disorder with neurologic defects, is a rare genetic disorder that affects males. When diagnosing this condition, it's essential to consider differential diagnoses, which are other conditions that may present similar symptoms.

According to the available information [4][5], differential diagnoses for MEND syndrome include:

• CDPX1 (Conradi-Hünermann syndrome)
• RCDP (Rhizomelic chondrodysplasia punctata)
• Chondrodysplasia punctata, tibia-metacarpal type
• CHILD syndrome (Congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
• Systemic lupus erythematosus
• MEND syndrome itself is also listed as a differential diagnosis [5]

Additionally, the clinical criteria for distinguishing between CHH syndrome in males and MEND syndrome are elaborated in some studies [7][9]. These criteria may help differentiate between these two conditions.

It's worth noting that early surgical repair is provided for craniosynostosis, cleft lip, and other syndromic craniosynostoses, such as Crouzon disease [10].

References: [4] - MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane... [5] - Differential diagnoses include CDPX1; RCDP; chondrodysplasia punctata, tibia-metacarpal type; CHILD syndrome; systemic lupus erythematosus; MEND syndrome, and ... [7] - Clear-cut clinical criteria are elaborated to distinguish between CHH syndrome in males and MEND syndrome. Because the clinical outcome and... [9] - ... clinical and genetic differences between CHH syndrome in males and MEND syndrome. ... An ectopic spleen attached to the left testis is a rare differential ... [10] - Differential diagnosis includes syndromic craniosynostoses, such as Crouzon disease. ... Early surgical repair is provided for craniosynostosis, cleft lip...