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People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

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

The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.

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

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

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

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

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

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

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

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

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

A new genetic mutation causing Werner's syndrome was found in an Indian man.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

A potential genetic link between Werner syndrome and kidney disease was suggested.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

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

Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.