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A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

Pincer nails are rare in lupus patients and may be managed conservatively.

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

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

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

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

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

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

Uncombable hair is inherited dominantly with complete penetrance.

A six-year-old girl with extra hair on her elbows was treated with hair removal methods.

Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.

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

Laser treatment can fix skin color issues after syndactyly surgery.

A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.

A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.

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

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

The document reports a unique case of woolly hair with a combination of conditions not previously seen together.

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

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.

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

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.