Noonan syndrome-like disorder with loose anagen hair 2

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 (NSLH2) is a rare genetic disorder characterized by craniofacial features and hair abnormalities.

Key Features:

• Facial dysmorphia, similar to Noonan syndrome [6]
• Congenital heart defects
• Cognitive deficits
• Pluckable, sparse, thin, and slow-growing hair [8]

Causes: NSLH2 is caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23 [9]. This genetic mutation leads to the characteristic features of the disorder.

Association with Noonan Syndrome: Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) is associated with a phenotype resembling Noonan syndrome, including facial dysmorphia and cognitive deficits [6].

Note: The information provided above is based on the search results and context provided.

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is characterized by facial features similar to those observed in Noonan syndrome, including a small head, high forehead, wide-set eyes, a short neck, short stature and low set, rotated ears. These features are combined with Anagen [2][3].

In addition to these physical characteristics, individuals with NS/LAH may also experience other symptoms such as:

• Diffusely thinning scalp hair, which can give a patchy pattern of loss
• Unmanageable, dry, lusterless hair
• Constipation for longer than three months [5]

It's worth noting that prenatal signs of NS are nonspecific and may include increased nuchal translucency, cystic hygroma and/or ascites (that may lead to fetal demise), polyhydramnios [6].

References: * [2]: Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), ... * [3]: This includes a small head, high forehead, wide-set eyes, a short neck, short stature and low set, rotated ears. These features are combined with Anagen ... * [5]: Sign or Symptom. Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of ... * [6]: Prenatal signs of NS are nonspecific: increased nuchal translucency, cystic hygroma and/or ascites (that may lead to fetal demise), polyhydramnios, ...

Diagnostic Tests for Noonan Syndrome-Like Disorder with Loose Anagen Hair

Noonan syndrome-like disorder with loose anagen hair is a rare genetic disorder that can be challenging to diagnose. While there are no specific diagnostic tests for this condition, several methods can aid in its diagnosis.

• Clinical Presentation: The first step in diagnosing Noonan syndrome-like disorder with loose anagen hair is through clinical presentation. A healthcare professional will assess the individual's symptoms and medical history to determine if they match the characteristics of this condition.
• Molecular Testing: Molecular testing, such as genetic sequencing, can confirm the diagnosis of Noonan syndrome-like disorder with loose anagen hair. This test can identify specific genetic mutations associated with the condition.
• Genetic Tests: Genetic tests, such as those offered by US-based laboratories, can also aid in the diagnosis of Noonan syndrome-like disorder with loose anagen hair. These tests can detect specific genetic variants associated with the condition.

Key Points to Consider

• The principal differential diagnosis for Noonan syndrome-like disorder with loose anagen hair includes Noonan syndrome and other conditions.
• A consultation and evaluation by a healthcare professional are essential to determine if someone has a diagnosis of Noonan syndrome-like Disorder with Loose Anagen Hair (NSLH).
• Diagnosis is based on clinical features, including facial dysmorphia, cognitive deficits, congenital heart defects, and loose anagen hairs.

References

1. The principal differential diagnosis for Noonan syndrome-like disorder with loose anagen hair includes Noonan syndrome and other conditions [1].
2. A consultation and evaluation by a healthcare professional are essential to determine if someone has a diagnosis of Noonan syndrome-like Disorder with Loose Anagen Hair (NSLH) [6].
3. Diagnosis is based on clinical features, including facial dysmorphia, cognitive deficits, congenital heart defects, and loose anagen hairs [7].

Treatment Options for Noonan Syndrome-Like Disorder with Loose Anagen Hair

Noonan syndrome-like disorder with loose anagen hair (NS-LAH) is a rare genetic condition that affects the hair growth and development. While there is no specific cure for NS-LAH, various treatment options are available to manage its symptoms.

Recombinant Human Growth Hormone (rhGH)

According to a case report [1], recombinant human growth hormone (rhGH) has been used to treat patients with NS-LAH. The study found that patients benefit from long-term GH-therapy, although they do not show the characteristic catch-up growth of isolated GH deficiency.

Other Treatment Options

In addition to rhGH therapy, other treatment options for NS-LAH include:

• Minioxidil therapy: This has been shown to be effective in infants with LAHS [8].
• Medical treatment for reflux: Patients with NS-LAH may experience reflux symptoms, and medical treatment should be given as needed [6].
• Surgery: In some cases, surgery may be necessary to correct undescended testes in boys or optimize cardiac function.
• Reassurance and gentle hairstyles: Treatment also involves reassurance and gentle hairstyles, which may improve with age [10].

Orphan Drugs

NS-LAH is considered a rare disease, and orphan drugs are being developed specifically for its treatment. Orphanet provides information on the diagnosis, care, and treatment of NS-LAH, as well as other resources.

References:

[1] Zhou P et al. (2020) A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone [Context 1].

[6] Carcavilla A et al. (2020) Noonan syndrome-like disorder with loose anagen hair [Context 6].

[8] Cantatore-Francis JL et al. (2009) Loose anagen hair syndrome: a review of the literature and report of two cases [Context 8].

[10] Treatment involves reassurance and gentle hairstyles; the condition may improve with age [Context 10].

The differential diagnosis for Noonan syndrome-like disorder with loose anagen hair (NS/LAH) includes several conditions that present similar symptoms.

• Telogen effluvium: This is a condition characterized by excessive hair shedding, often triggered by stress or hormonal changes. It can be a differential diagnosis for NS/LAH, as both conditions involve loose anagen hair.
• Trichotillomania: Also known as hair-pulling disorder, this is a psychological condition where individuals compulsively pull out their own hair. While it's not directly related to NS/LAH, the two conditions can be considered in differential diagnosis due to similar symptoms of loose anagen hair.

Other conditions that may be considered in differential diagnosis for NS/LAH include:

• Cardio-Facio-Cutaneous syndrome: A rare genetic disorder characterized by facial abnormalities, heart defects, and skin problems.
• Costello syndrome: Another rare genetic disorder that presents with facial abnormalities, developmental delays, and an increased risk of cancer.
• Neurofibromatosis type 1: A genetic disorder that affects the nervous system, causing tumors to grow on nerve tissue.

It's essential to note that a comprehensive diagnosis requires a thorough medical evaluation by a qualified healthcare professional. They will consider various factors, including family history, physical examination, and laboratory tests, to determine the most accurate diagnosis.

References:

• [2] Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is characterized by loose anagen hair, mitral valve dysplasia, septal defects, and other features.
• [3] In the pediatric population, the most common differential diagnoses include alopecia areata, telogen effluvium, androgenetic alopecia, trichotillomania, and others.
• [6] Differential diagnoses for NS/LAH also include Cardio-Facio-Cutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Noonan syndrome with multiple lentigines.