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A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Trichothiodystrophy causes unusual hair and developmental issues.

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

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

A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.

Cantú syndrome may be linked to pituitary adenomas.

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

Consider rare forms of CAH for accurate diagnosis and treatment.

CDH3-related disease causes worsening eye and hair issues.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

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

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

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

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

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

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

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