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A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

Satoyoshi syndrome can occur without causing premature ovarian failure.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A specific gene mutation causes Olmsted syndrome.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

HLD10 can include increased body hair and Mongolian spots.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

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

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.

Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

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

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

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

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

The twins' condition is unique and doesn't match any known syndromes.

SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.

Netherton's syndrome may have a familial link and doesn't always include atopy.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.