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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.

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

SQSTM1 gene issues may increase the risk of alopecia areata.

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

A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

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

SQSTM1 is linked to increased risk of alopecia areata.

A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

Nail abnormalities in children can indicate deeper health issues.

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

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

Trichothiodystrophy causes unusual hair and developmental issues.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.

Mutations in the KRT85 gene cause hair and nail problems.

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