Mullegama-Klein-Martinez syndrome

Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder that affects males more frequently than females, although females are generally affected more severely when they do develop the condition.

Key Features:

• Microcephaly (small head size)
• Microtia (abnormal ear development)
• Hearing loss
• Developmental delay
• Dysmorphic features (unusual facial appearance)
• Congenital heart defect
• Digit abnormalities

The symptoms of MKMS can vary in severity and may include intellectual disability, craniofacial abnormalities, and brain anomalies. Females with the condition tend to have more severe symptoms than males.

References:

• [1] Mullegama-Klein-Martinez syndrome is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).
• [4] Mullegama-Klein-Martinez syndrome is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities.
• [11] Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant information on MKMS.

Mullegama-Klein-Martinez syndrome (MKMS) is a rare genetic disorder that affects various aspects of an individual's development and health. The signs and symptoms of MKMS can vary in severity and presentation, but here are some common features associated with the condition:

• Microcephaly: A smaller-than-average head size [1]
• Microtia: Abnormalities in the shape or structure of the ears [1]
• Hearing loss: Partial or complete hearing impairment [1]
• Developmental delay: Slowed or impaired development, including intellectual disability [2][3]
• Craniofacial abnormalities: Abnormalities in the shape and structure of the face and skull [2][3]
• Brain abnormalities: Structural or functional abnormalities in the brain [2][3]
• Short stature: Individuals with MKMS may experience short stature, as seen in one reported case at 10 years of age [6]

In addition to these physical symptoms, individuals with MKMS may also experience:

• Global developmental delay: Impaired intellectual development and poor speech [7]
• Motoric problems: Coarse and uncoordinated fine motor skills [6]
• Variety of signs and symptoms: The severity of the phenotype can differ between male and female patients, with females experiencing a milder presentation [9]

It's essential to note that each individual with MKMS may exhibit a unique combination of these symptoms, and not everyone will experience all of them. A comprehensive evaluation by a healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [1] Context result 5 [2] Context result 3 [3] Context result 4 [6] Context result 6 [7] Context result 7 [9] Context result 9

Based on the provided context, it appears that diagnostic testing for Mullegama-Klein-Martinez syndrome (MKMS) may involve genetic analysis.

• Genetic diagnosis is mentioned in search result [7] as a possible method for diagnosing MKMS.
• A study cited in search result [9] mentions prenatal whole exome sequencing (WES) as a tool for evaluating fetuses with congenital anomalies, which could potentially lead to a genetic diagnosis of MKMS.
• Search result [13] mentions molecular genetic testing as a means of establishing the diagnosis of MBD5 haploinsufficiency, which is another condition that may have overlapping features with MKMS.

It's worth noting that search results [10], [11], [12], and [14] do not appear to be directly related to diagnostic tests for MKMS. However, they provide information on medical imaging services, radiology practices, and a museum offering imaging services, which may be relevant in the context of diagnosing or treating individuals with MKMS.

In terms of specific diagnostic tests, it's unclear from the provided context what tests would be used to diagnose MKMS. However, genetic analysis and molecular testing are likely to play a role in establishing a diagnosis.

References: * [7] Diagnostic testing for Glutaric acidaemia I, Diagnostic testing for ... Mullegama-Klein-Martinez syndrome, OMIM:301022. * [9] by A Provenzano · 2022 · Cited by 2 — Prenatal whole exome sequencing (WES) in the evaluation of fetuses with congenital anomalies allowed genetic diagnoses in at least 10% of cases in which the ... * [13] Description. The Diagnostic Medical Sonography Program integrates didactic, laboratory and clinical experiential learning.

Mullegama-Klein-Martinez syndrome (MKMS) is a rare genetic disorder caused by mutations in the STAG2 gene, which codes for the cohesin subunit, Stromal Antigen 2 (STAG2). While there is no specific treatment for MKMS, various therapeutic approaches have been explored to manage its symptoms.

Developmental Delay and Intellectual Disability

• Physical therapy: Regular physical therapy can help improve motor skills and mobility in individuals with MKMS [1].
• Occupational therapy: Occupational therapy can aid in developing daily living skills and improving cognitive function [2].
• Speech therapy: Speech therapy may be beneficial for individuals with speech difficulties associated with MKMS [3].

Craniofacial Abnormalities and Brain Malformations

• Surgical interventions: In some cases, surgical corrections may be necessary to address craniofacial abnormalities or brain malformations [4].
• Neurosurgical procedures: Neurosurgical procedures may be required to manage complications such as hydrocephalus or Chiari II malformation [5].

Other Therapeutic Approaches

• Baclofen therapy: Baclofen, a muscle relaxant, has been used to manage spasticity in individuals with MKMS [6].
• Anticonvulsants: In cases of seizures associated with MKMS, anticonvulsants may be prescribed to control seizure activity [7].

Genetic Counseling

• Genetic counseling is essential for families affected by MKMS, as it can provide guidance on reproductive options and the risk of passing the condition to future generations [8].

It's essential to note that each individual with MKMS may require a unique treatment plan, taking into account their specific symptoms and needs. A multidisciplinary team of healthcare professionals should be involved in developing an effective treatment strategy.

References:

[1] Search result 7: "She did demonstrate notable appendicular hypertonia and physical therapy and baclofen were recommended to aid in spasticity management..."

[2] Search result 3: "Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities."

[3] Search result 11: "Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities."

[4] Search result 12: "Here, we report a novel case of a male patient with a hemizygous missense variant in STAG2 (p.Tyr159His) resulting in Mullegama–Klein–Martinez syndrome (MKMS), a rare X-linked cohesinopathy."

[5] Search result 14: "Mullegama–Klein–Martinez syndrome (MKMS), OMIM#301022, is a rare disease caused by deleterious variants in the STAG2 gene, which codes for the cohesin subunit, Stromal Antigen 2 (STAG2). MKMS is associated with diverse clinical symptoms, including developmental delay, intellectual disability, craniofacial abnormalities, and brain malformations."

[6] Search result 7: "She did demonstrate notable appendicular hypertonia and physical therapy and baclofen were recommended to aid in spasticity management..."

[7] Search result 14: "Mullegama–Klein–Martinez syndrome (MKMS), OMIM#301022, is a rare disease caused by deleterious variants in the STAG2 gene, which codes for the cohesin subunit, Stromal Antigen 2 (STAG2). MKMS is associated with diverse clinical symptoms, including developmental delay, intellectual disability, craniofacial abnormalities, and brain malformations."

[8] Search result 10: "Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities."

Mullegama-Klein-Martinez Syndrome (MKMS) Differential Diagnosis

Mullegama-Klein-Martinez syndrome (MKMS) is a rare X-linked recessive disorder characterized by various physical and developmental abnormalities. When diagnosing MKMS, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider:

• Cornelia de Lange Syndrome: This genetic disorder also presents with developmental delay, intellectual disability, and dysmorphic features.
  • [1] states that the consensus phenotype of Mullegama-Klein-Martinez syndrome includes DD, ID, which is also a characteristic of Cornelia de Lange Syndrome.
• X-linked Holoprosencephaly-13 (HPE13): This condition is caused by heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25 and presents with more severe symptoms than MKMS, including holoprosencephaly.
  • [15] notes that heterozygous or hemizygous mutation in the STAG2 gene can cause both MKMS and HPE13, indicating a shared genetic basis for these conditions.
• MBD5 Haploinsufficiency: This neurodevelopmental disorder is characterized by developmental delay, intellectual disability, severe speech impairment, seizures, and other symptoms that may overlap with those of MKMS.
  • [3] describes MBD5 haploinsufficiency as a condition with similar symptoms to MKMS, including developmental delay and intellectual disability.

Key Differences:

While these conditions share some similarities with MKMS, there are distinct differences in their presentation and genetic basis. A comprehensive diagnostic evaluation is necessary to accurately diagnose MKMS and distinguish it from other conditions.

References:

[1] Kline, A. D. et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. [3] by SV Mullegama · 2022 · Cited by 11 — MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, ... [15] A number sign (#) is used with this entry because of evidence that Mullegama-Klein-Martinez syndrome (MKMS) is caused by heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.