The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases ... Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly ...

associated with a clinically recognisable syndrome. The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding ...

Scalp hair growth and patterning are closely associated with the development of the central nervous system. A number of genetic, metabolic, and neurologic disorders are associated with ...

Androgenetic alopecia (AGA) is a common condition that affects millions of men and women worldwide. As the most prevalent form of hair loss, AGA can impact an individual's appearance and self ...

Background Childhood interstitial lung disease (chILD) encompasses a group of rare heterogeneous respiratory conditions associated with significant morbidity and mortality. Reports suggest that many ...

Moebius syndrome is a rare congenital (present at birth) condition that results from underdevelopment of the facial nerves that control some of the eye movements and facial expressions. The condition ...

Nephrotic syndrome isn’t a disease. It’s a group of symptoms that can appear if your kidneys aren’t working right. You might have a condition that affects only your kidneys. Doctors call ...

The most common type of dwarfism is called achondroplasia (ay-con-druh-PLAY-zhuh). How common are skeletal dysplasias? There are more than 400 types of skeletal dysplasia. Together, these conditions ...

A focused evaluation of scalp hair should be part of every newborn physical assessment. Although typically completed in the delivery room, it may be useful to re-evaluate the infant after the ...

The myelodysplastic syndromes (MDS) are disorders of the haematopoietic stem cells in the bone marrow, that result in a decreased production of blood cells. MDS mainly affects patients aged 70 and ...