Hengel-Maroofian-Schols syndrome

Hengel-Maroofian-Schols syndrome (HEMARS) is a rare neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood [1]. Affected individuals typically exhibit delayed walking or inability to walk, impaired intellectual development with poor or absent speech, and pyramidal signs manifest as lower limb spasticity [2][6].

Individuals with HEMARS syndrome often experience poor overall growth, including short stature and microcephaly (small head size) [3]. Additionally, they may display dysmorphic facial features, which are unusual physical characteristics that can vary from person to person [5].

The symptoms of HEMARS syndrome can be quite severe and have a significant impact on an individual's quality of life. It is essential for early diagnosis and intervention to provide the best possible care and support for those affected by this condition.

References: [1] Description of Hengel-Maroofian-Schols syndrome (HEMARS) as an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. [2] Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity. [3] Poor overall growth often with short stature and microcephaly (small head size). [5] Dysmorphic facial features. [6] Pyramidal signs manifest as lower limb spasticity.

Clinical Presentation of Hengel-Maroofian-Schols Syndrome

Hengel-Maroofian-Schols syndrome is a rare neurodevelopmental disorder characterized by several distinct signs and symptoms. The clinical presentation typically includes:

• Delayed walking or inability to walk: Affected individuals often experience significant delays in achieving independent mobility, with some cases involving complete inability to walk [1][2].
• Impaired intellectual development: Individuals with Hengel-Maroofian-Schols syndrome may exhibit impaired cognitive function, including poor or absent speech [3][4].
• Pyramidal signs: Lower motor neuron signs, such as muscle weakness and spasticity, are commonly observed in affected individuals [1][2].
• Facial dysmorphism: Some cases may involve facial abnormalities, although this is not a universal feature of the syndrome [9].

Additional Associated Abnormalities

In some instances, Hengel-Maroofian-Schols syndrome has been associated with additional abnormalities, including:

• Microcephaly: Reduced head circumference
• Short stature: Below-average height
• Behavioral problems: Individuals may exhibit behavioral difficulties, such as hyperactivity or aggression [9]

It is essential to note that the clinical presentation of Hengel-Maroofian-Schols syndrome can vary significantly between individuals, and not all affected persons will exhibit all of these signs and symptoms.

References:

[1] Context result 4 [2] Context result 4 [3] Context result 5 [4] Context result 5 [9] Context result 9

Based on the search results, it appears that diagnostic tests for Hengel-Maroofian-Schols syndrome may include:

• Genetic testing: This may involve analyzing DNA samples to identify any genetic mutations associated with the condition [7].
• Other diagnostic aids and test guides are also available, but specific details about them are not provided in the search results.

It's worth noting that individuals who suspect they or their family members may be affected by a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and answers to personal questions [2].

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information provided in these search results.

References: [2] - Consultation with a qualified physician for diagnosis and answers to personal questions. [7] - Genetic testing as a possible diagnostic test for Hengel-Maroofian-Schols syndrome.

Current Understanding of Drug Treatment for HEMARS Syndrome

HEMARS (Hengel-Maroofian-Schols) syndrome is a rare autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, apparent from infancy or early childhood. While there is limited information available on the specific drug treatment for this condition, research suggests that a comprehensive approach may be necessary to manage its symptoms.

• No specific treatments mentioned: None of the search results (1-15) mention any specific drugs or treatment protocols for HEMARS syndrome.
• General principles of drug action: According to article 13, pharmacology deals with all aspects of drugs in medicine, including their mechanism of action, physical and chemical properties, metabolism, therapeutics, and toxicity. This suggests that a deep understanding of the underlying biology of HEMARS syndrome would be necessary to develop effective treatments.
• Importance of early intervention: As mentioned in search result 9, identifying the cause of neurological disorders and early intervention are key to reducing devastating brain damage. This implies that prompt medical attention and possibly experimental treatments may be crucial for individuals with HEMARS syndrome.

Hengel-Maroofian-Schols syndrome (HEMARS) is a rare autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, apparent from birth or early infancy. The differential diagnosis for HEMARS involves considering other conditions that present with similar clinical features.

Key Features to Consider:

• Severe global developmental delay
• Microcephaly (small head size)
• Short stature
• Strabismus (crossed eyes)
• Dysmorphic facial features
• Pyramidal tract involvement

Conditions to Rule Out:

• Osteogenesis imperfecta type XVI (OI16): a severe autosomal recessive disorder characterized by prenatal onset of multiple fractures, blue sclerae, and decreased bone density [4].
• Spastic Paraplegia: a group of genetic disorders that affect the nervous system, leading to muscle weakness and stiffness in the legs [7].

Clinical Features to Differentiate HEMARS from Other Conditions:

• Hypermobility/hyperlaxity
• Axial weakness
• Dysmorphic signs
• Asymmetric presentation
• Dystonic features

These clinical features are newly reported in HEMARS patients and can help differentiate the condition from other neurodevelopmental disorders [5].

Genetic Considerations:

• Biallelic loss-of-function variants in genes involved in neurodevelopment, such as those causing spastic paraplegia, may lead to a syndromic neurodevelopmental disorder like HEMARS [8].

In summary, the differential diagnosis of Hengel-Maroofian-Schols syndrome involves considering other rare autosomal recessive disorders that present with similar clinical features, such as osteogenesis imperfecta type XVI and spastic paraplegia. The presence of specific clinical features, such as hypermobility/hyperlaxity and axial weakness, can help differentiate HEMARS from these conditions.

References:

[1] Clinical features · Abnormality of head or neck. Epicanthus · Abnormality of the cardiovascular system. Bicuspid aortic valve · Abnormality of the eye. [2] Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from ... [3] All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, ... [4] Osteogenesis imperfecta type XVI (OI16) is a severe autosomal recessive disorder characterized by prenatal onset of multiple fractures, blue sclerae, decreased ... [5] by S Nagy · 2024 — Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, ... [8] by P Iruzubieta · 2024 — Biallelic loss-of-function variants (26 patients) lead to a neurodevelopmental disorder characterised by spasticity, childhood-onset stroke, and periatrial ...