X-linked intellectual disability, Siderius type
Alternate names[edit | edit source]
MRXSSD; Intellectual deficit X-linked Siderius type; Siderius Hamel syndrome
Definition[edit | edit source]
X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present.
Epidemiology[edit | edit source]
The syndrome has been described in seven boys from two families.
Cause[edit | edit source]
- X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene.
- This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth.
Inheritance[edit | edit source]
- This condition is inherited in an X-linked recessive pattern.
Signs and symptoms[edit | edit source]
- This condition is characterized by mild to moderate intellectual disability that affects only males.
- Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.
- Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate).
- A cleft can occur on one or both sides of the upper lip.
- Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures).
- Affected individuals may also have low-set ears and large hands.
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
X-linked intellectual disability, Siderius type is a rare disease.
X-linked intellectual disability, Siderius type Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju