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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

A new genetic mutation was found causing hair and eye issues in a boy.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

A new syndrome may link skin, growth, mental, and hair issues.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Björnstad syndrome causes twisted hair from birth.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.