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"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.

The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.

Two teenage boys lost hair after taking a drug for growth, which was not a known side effect for kids.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.

A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

Short anagen syndrome involves a hair growth phase lasting 1.5 years.

Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.

Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

Minoxidil helped a boy regrow his hair after intense chemotherapy for leukaemia.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.