How many people have tricho hepato enteric syndrome?

Epidemiology. Tricho-hepato-enteric syndrome is estimated to affect 1 in 300,000 to 400,000 live births in Western Europe. This syndrome was first reported in 1982 with a report on 2 siblings, and as of 2008 there were around 25 published cases in medical journals.

What is trichohepatoenteric syndrome?

Trichohepatoenteric syndrome is a condition that affects the hair, liver, and intestines. The condition is characterized by chronic diarrhea that begins during the first six months after birth. Continued diarrhea can lead to an inability to gain weight (failure to thrive).

What is thes syndrome?

Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature.

What is Rubinstein syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What causes Trichothiodystrophy?

What causes trichothiodystrophy? Trichothiodystrophy is caused by defective DNA repair and transcription and is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene that causes trichothiodystrophy for a child to inherit the condition.

What is SDS illness?

Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and, in some cases, skeletal abnormalities.

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What is floating Harbour syndrome?

Summary. Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. Children may be below average height for their age (short stature).

What is Amish brittle hair syndrome?

BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited disease. It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.

What is woolly hair?

Woolly hair is a rare congenital abnormality of the structure of the scalp hair characterized by tightly coiled hair involving part or the entire scalp occurring in an individual of non-negroid origin. [1] It was first observed and described by Gossage in 1907 in a European family.