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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.

The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.

A chubby child can still be malnourished.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

Trichothiodystrophy causes unusual hair and developmental issues.

Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Researchers created a mouse model of a type of rickets that does not cause hair loss.

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Early detection and biotin treatment improve outcomes for biotinidase deficiency.

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

Umbilical cord blood transplantation improved the boy's symptoms despite complications.

An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.

Vitamin B12 deficiency can cause darkening of all nails.

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

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.