neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities (NEDMCR Syndrome)

The description of this rare neurodevelopmental disorder is characterized by a combination of severe developmental delays, physical abnormalities, and organ malformations.

• Global Developmental Delay: Individuals with NEDMCR syndrome experience significant delays in achieving typical developmental milestones, such as sitting, walking, and talking [1].
• Microcephaly: A key feature of this disorder is the presence of microcephaly, which refers to a significantly smaller head size compared to average [4].
• Cataracts: Congenital cataracts are also a common feature, affecting the clarity of vision in affected individuals [2].
• Renal Abnormalities: Renal malformations and abnormalities are another hallmark of NEDMCR syndrome, which can lead to kidney dysfunction and other related complications [3].

This rare neurodevelopmental disorder is often associated with significant physical and cognitive impairments, requiring comprehensive medical care and support.

References:

[1] - Context 1: Features include global developmental delay, poor speech, inability to walk, spasticity, renal abnormalities, congenital cataracts, gastroesophageal reflux ...

[2] - Context 2: Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, ...

[3] - Context 9: Clinical signs and symptoms observed in neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities. Source: EFO, MONDO, HPO.

[4] - Context 8: A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ...

Common Signs and Symptoms

Neurodevelopmental disorders with microcephaly, cataracts, and renal abnormalities can present with a range of clinical features. Some common signs and symptoms include:

• Microcephaly: A condition where the head circumference is significantly smaller than average [1].
• Cataracts: Clouding of the lens in the eye that affects vision [3][8].
• Renal Abnormalities: Issues with the kidneys, such as defects or malformations [2][5][6].
• Muscle Hypotonia: Weakness or low muscle tone [3].
• Seizures: Recurring episodes of abnormal brain activity that can cause convulsions [3].
• Eye Abnormalities: Issues with the eyes, such as ptosis (drooping eyelids) and hearing loss [3].
• Inguinal Hernia: A protrusion of the intestine through a weakened area in the abdominal wall [3].

Additional Features

Less common features associated with this condition include:

• Hearing Impairment: Difficulty hearing or being deaf [10].
• Autism-like Behaviors: Repetitive behaviors, social difficulties, and communication challenges [10].
• Abnormalities of the Thyroid Gland: Issues with the thyroid gland, which can affect metabolism [10].

References

[1] Clinical features ; Abnormality of head or neck. High palate ; Abnormality of metabolism/homeostasis. Hypocalcemia; Hypokalemia; Hyponatremia ; Abnormality of the ...

[2] by W Kempińska · 2022 · Cited by 11 — Muscle hypotonia, seizures, eye abnormalities (e.g., cataract), ptosis, hearing loss, and inguinal hernia are also common. Renal defects are also of common ...

[3] by M Derbent · 2006 — It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and ...

[5] A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ...

[6] A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ...

[8] by SJ Bell · 2020 · Cited by 40 — Developmental cataract is often an early ocular sign of this condition, along with systemic features such as infantile diarrhoea and tendon ...

[10] Mar 13, 2023 — Less common features include hearing impairment, seizures and autism-like behaviors, and abnormalities of the thyroid gland, skull, genitals, ...

To diagnose neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, several diagnostic tests can be employed.

• Clinical evaluation: A thorough clinical evaluation is essential to identify the characteristic features of this condition. This includes a detailed medical history, physical examination, and assessment of developmental milestones [1].
• Imaging studies: Imaging studies such as MRI or CT scans are crucial in identifying associated neuroimaging findings like brain atrophy, ventriculomegaly, cerebellar and brainstem anomalies, cortical gyral abnormalities [6].
• Ophthalmological examination: A comprehensive ophthalmological examination is necessary to assess the presence of cataracts and other eye anomalies [10].
• Cardiovascular evaluation: Cardiovascular evaluation may be required to investigate associated cardiovascular anomalies [8][10].
• Renal ultrasound: Renal ultrasound can help identify renal abnormalities, which are a characteristic feature of this condition [3].

It is essential to note that the diagnosis of neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities requires a multidisciplinary approach involving pediatricians, neurologists, ophthalmologists, cardiologists, and nephrologists.

References: [1] - Context 3 [6] - Context 6 [8] - Context 8 [10] - Context 10

Based on the search results, it appears that there are several conditions related to neurodevelopmental disorders with microcephaly, cataracts, and renal abnormalities.

Treatment Overview

The treatment for these conditions is generally symptomatic and supportive. According to search result [4], additional features of this syndrome include gastroesophageal reflux disease, seizures with onset in infancy or childhood, and other complications.

Specific Treatments

Search results [2] and [3] mention that the treatment includes a low-phenylalanine diet, oral BH4, the administration of carbidopa, L-DOPA, and 5-hydroxytryptophan. However, it's essential to note that these treatments are not specifically mentioned as being for neurodevelopmental disorders with microcephaly, cataracts, and renal abnormalities.

General Approach

Search result [7] states that diagnosis is generally clinical, based on the patient's constellation of symptoms. Early investigation is crucial for timely diagnosis, treatment, and development of a long-term management plan, as mentioned in search result [9].

Important Considerations

It's worth noting that trauma and iatrogenic causes (such as medications and radiation exposure) are also relevant but rare in this age group, according to search result [6]. Additionally, inherited congenital conditions should be considered when evaluating these patients.

In summary, while specific treatments for neurodevelopmental disorders with microcephaly, cataracts, and renal abnormalities are not clearly outlined in the search results, a general approach of symptomatic and supportive treatment is recommended. Early investigation and diagnosis are crucial for effective management.

References:

[2] by W Kempińska · 2022 · Cited by 11 [3] by W Kempińska · 2022 · Cited by 11 [4] Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, ... [6] Trauma and iatrogenic causes such as medications and radiation exposure are also relevant but rare in this age group. [7] Diagnosis is generally clinical, based on the patient's constellation of symptoms. [9] Early investigation is essential for timely diagnosis, treatment and the development of a long-term management plan.

The differential diagnosis for neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) includes various conditions that present with similar symptoms. Some of the possible differential diagnoses are:

• Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies (NMIHBA): This condition is characterized by microcephaly, hypotonia, and variable brain anomalies, which can include cataracts and renal abnormalities. [14]
• Micro syndrome: This genetic disorder is associated with microcephaly, cataracts, and renal abnormalities, among other features. [3]
• Other congenital/early nephrotic syndromes: These conditions can present with similar symptoms to NEDMCR, including renal abnormalities and cataracts. [8]

It's essential to note that a definitive diagnosis of NEDMCR is typically made through genetic testing, which can identify the homozygous mutation in the GEMIN4 gene on chromosome 17p13. [15]