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Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

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

Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

A specific gene mutation causes sparse, brittle hair in a family.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

A new type of pachyonychia congenita may exist, caused by a different keratin mutation.

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

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

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

A new mutation in mice causes crooked whiskers and messy hair.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

A specific gene mutation causes a severe skin disorder in a family.

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

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

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

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

Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.