Coarse facial features

Coarse facial features or coarse facies describes a constellation of facial features that are present in many inborn errors of metabolism.^[1]

Coarse facies
A 16 year old with Mucopolysaccharidosis showing coarse facial features.
Specialty	Medical genetics

Features include:^[1]

• large, bulging head
• prominent scalp veins
• "saddle-like, flat bridged nose with broad, fleshy tip"
• large lips and tongue
• small, widely spaced and/or malformed teeth
• hypertrophic alveolar ridges and/or gums

Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual.

Causes[]

Several conditions are associated with coarse facial features.^[2]

• Acromegaly
• Aspartylglycosaminuria
• Borjeson Syndrome
• Congenital hypothyroidism
• Fucosidosis type 1
• GM1 gangliosidosis
• Hyper IgE
• Hypomelanosis of Ito
• I cell disease
• Infantile sialic acid storage disorder
• Job syndrome
• McCune-Albright Syndrome
• Morquio syndrome
• Mucolipidosis III
• Mucopolysaccharidosis type 2 Hunter syndrome- mild form
• Mucopolysaccharidosis type 2 Hunter syndrome- severe form
• Mucopolysaccharidosis type 3
• Mucopolysaccharidosis type 6
• Mucopolysaccharidosis type I Hurler syndrome
• Mucopolysaccharidosis type I Hurler/Scheie syndrome
• Mucopolysaccharidosis type I Scheie syndrome
• Multiple endocrine neoplasia type 2b
• Nodulosis-arthropathy-osteolysis syndrome
• Sialuria syndrome
• Simpson-Golabi-Behmel syndrome
• Winchester syndrome

See also[]

• Facies (medical)

References[]

External links[]

• https://web.archive.org/web/20090106211640/http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp
• http://www.wrongdiagnosis.com/

This medical symptom article is a stub. You can help Wikipedia by .

• v
• t