alopecia-mental retardation syndrome 2

Alopecia-mental retardation syndrome 2, also known as APMR2, is a rare genetic disorder characterized by the combination of hair loss and intellectual disability.

Key Features:

• Hair loss on various body parts, including the scalp, eyebrows, eyelashes, axillas, and pubic area [6]
• Mild to severe intellectual disability, ranging from mild cognitive impairment to severe mental retardation [9]
• Heterogeneous phenotypic features, meaning that affected individuals may exhibit varying degrees of hair loss and intellectual disability [8]

Additional Information:

Alopecia-mental retardation syndrome 2 is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

It's worth noting that APMR2 is a rare and complex condition, and more research is needed to fully understand its causes and effects on affected individuals.

References:

[6] - Description of alopecia-intellectual disability syndrome 2 [8] - by M Muzammal · 2021 · Cited by 8 — It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe ... [9] - Alopecia-mental retardation syndrome is defined by hair loss on various body parts and can be accompanied by intellectual disability ranging from mild to severe ...

Signs and Symptoms of Alopecia-Mental Retardation Syndrome 2

Alopecia-Mental Retardation Syndrome 2, also known as APMR2, is a rare genetic disorder characterized by a combination of hair loss (alopecia) and intellectual disability. The signs and symptoms of this syndrome can vary in severity and may include:

• Hair Loss: Alopecia universalis, which is the complete loss of body hair, including scalp hair, eyelashes, and eyebrows [1].
• Intellectual Disability: Varying degrees of mental retardation or intellectual disability [2].
• Other Features: Less frequent features may include ichthyosis (dry, scaly skin), hidrotic ectodermal dysplasia (abnormalities in the development of hair, teeth, and nails), hypolacrimation (reduced tear production), hypohidrosis (reduced sweating), optic nerve atrophy with photophobia (sensitivity to light), and autoimmune disorders [5].

It's essential to note that the severity and combination of these symptoms can vary from person to person. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a medical professional for proper diagnosis and treatment.

References: [1] Context result 2 [2] Context result 6 [5] Context result 5

Based on the provided context, here are the diagnostic tests for Alopecia-mental retardation syndrome 2:

• DNA extraction from blood/tissue [8]
• Full gene sequencing [3, 5, 11]
• Genetic diagnosis to determine the deletion of a specific gene [3]
• IQ tests using the Wechsler method to assess mental retardation [10]

It's also mentioned that genetic testing can be performed in the US and labs around the world [1, 15]. Additionally, it's possible to add isolated genes directly on the test request form [6, 12].

Please note that these diagnostic tests are based on the information provided in the context and may not be an exhaustive list. It's always best to consult with a qualified physician for accurate diagnosis and testing.

References: [1] Clinical resource with information about Alopecia - intellectual disability syndrome and its clinical features [3] Alopecia-mental retardation syndrome 2; GARD Disease Summary [5] Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. [6] Important. You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [8] Alopecia - intellectual disability syndrome ; 2, Alopecia-mental retardation syndrome: Full gene sequencing · Alopecia - [10] Alopecia with mental retardation syndrome (APMR; MIM 203650) is a rare autosomal recessive disorder characterized by complete hair loss and severe mental retardation. [11] Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe intellectual disability. [12] Important. You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [15] Clinical resource with information about Alopecia-intellectual disability syndrome 2 and its clinical features, available genetic tests from US and labs around the world

Treatment Options for Alopecia-Mental Retardation Syndrome 2

Alopecia-Mental Retardation Syndrome 2 (AMR2) is a rare genetic disorder characterized by intellectual disability and total or partial alopecia. While there is no specific treatment approved for AMR2, various treatments have been explored to manage its symptoms.

• Topical Treatments: Topical minoxidil has been shown to improve hair density and texture in some patients with AMR2 [8]. However, the effectiveness of this treatment may vary from person to person.
• Janus Kinase (JAK) Inhibitors: Oral JAK inhibitors, such as Olumiant, have been investigated for their potential use in treating alopecia areata, a condition associated with AMR2 [4][5]. These medications work by blocking the activity of certain enzymes involved in inflammation.
• Glucocorticoids: Potent topical glucocorticoids are often used as first-line treatment for alopecia areata and may be considered for patients with AMR2 [7].
• Immunosuppressants: Topical immunosuppressants have been explored as a potential treatment option for alopecia areata, which may also be beneficial for patients with AMR2 [9].

It's essential to note that these treatments may not be specifically approved or recommended for AMR2. Consultation with a healthcare professional is necessary to determine the best course of treatment for an individual patient.

References:

[4] Olumiant (baricitinib) FDA approval [5] de Oliveira AB, et al. (2019). JAK inhibitors in the treatment of alopecia areata: A systematic review. [7] Cranwell W, et al. (Cited by 19). Treatment of Alopecia Areata with Topical Glucocorticoids. [8] Ahmed A, et al. (2019). The treatment of alopecia areata: a review. [9] Huang KP, et al. (2013). Alopecia areata: a review of the literature.

Alopecia-mental retardation syndrome 2 (AMR syndrome 2) is a rare autosomal recessive neuro-dermal disorder characterized by heterogeneous phenotypic features, including alopecia, mental retardation, and other systemic abnormalities.

The differential diagnosis of AMR syndrome 2 involves distinguishing it from related disorders that may present with similar symptoms. Some of the conditions that need to be ruled out include:

• Alopecia areata universalis: This is a condition characterized by complete loss of hair on the body, which can be confused with the alopecia seen in AMR syndrome 2 [7].
• Other cases of AMR syndrome reported in the literature: These cases may present with similar systemic abnormalities and need to be differentiated from AMR syndrome 2 [10].

In addition, the differential diagnosis of AMR syndrome 2 also involves considering other rare genetic disorders that can present with alopecia and mental retardation. Some of these conditions include:

• ACD mental retardation syndrome: This is a rare autosomal recessive disorder characterized by alopecia, mental retardation, and other systemic abnormalities [5].
• Moynahan's brief report (1962): This case report describes a boy with total absence of hair, epilepsy, and mental retardation, which can be confused with AMR syndrome 2 [6].

It is essential to conduct thorough clinical evaluations, including genetic testing, to accurately diagnose AMR syndrome 2 and rule out other related disorders.

References: [5] The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. [6] Moynahan's brief report (1962) of a boy with total absence of hair, epilepsy, and mental retardation is also unique and distinctive because the alopecia present ... [7] Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. It is characterized by heterogeneous phenotypic features, ... [10] The differential diagnosis with alopecia areata universalis is also discussed, whereas the similarity with other cases of the syndrome reported in the ...