Coarse facial features

Coarse facial features (coarse facies) is a constellation of facial features that are present in many inborn errors of metabolism.

Features include: 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

The head tends to be longer than normal from front to back, with a bulging forehead. This is because of the premature fusion of skull bones in the affected person.

Causes Several conditions are associated with coarse facial features.

Acromegaly Alpha-mannosidosis Aspartylglycosaminuria Battaglia-Neri syndrome Börjeson–Forssman–Lehmann syndrome Chromosome 6q deletion syndrome Infantile hypotonia with psychomotor retardation and characteristic facies-3 Congenital hypothyroidism Pettigrew syndrome Dyggve–Melchior–Clausen syndrome Fucosidosis type 1 GM1-gangliosidosis type I GM1-gangliosidosis type III GM1 gangliosidosis Goldberg syndrome Hyde-Forster syndrome Hyper IgE (Job Syndrome) Hypomelanosis of Ito I cell disease Immunodeficiency due to defect in MAPBP-interacting protein Infantile sialic acid storage disorder Mannosidosis (alpha B lysosomal) McCune–Albright syndrome Mental retardation (X-linked - epilepsy - progressive joint contractures - typical face) Mental retardation (X-linked Raynaud type) Miescher's syndrome Morquio syndrome Morquio syndrome type A Morquio syndrome type B MPS 3 C MPS 3 D Mucolipidosis III Mucopolysaccharidosis type IIA Mucopolysaccharidosis type IIB Mucopolysaccharidosis type III Mucopolysaccharidosis type VI Mucopolysaccharidosis type VII Mucopolysaccharidosis type Ih Mucopolysaccharidosis type Ih/s Mucopolysaccharidosis type I Scheie syndrome Multiple endocrine abnormalities - adenylyl cyclase dysfunction Multiple endocrine neoplasia type 2B Neuraminidase deficiency (type II juvenile form) Nodulosis–arthropathy–osteolysis syndrome Nonkeratan-sulfate-excreting Morquio syndrome Pituitary tumors (adult) Resistance to Thyroid Hormone Alpha.(3) Sialidosis type II (congenital) Sialidosis type II (infantile) Sialuria syndrome Simpson–Golabi–Behmel syndrome Simpson–Golabi–Behmel syndrome - type 1 (SGBS1) Skeletal dysplasia - coarse facies - mental retardation Spondyloepimetaphyseal dysplasia (genevieve type) Sulfatidosis juvenile (Austin type) Winchester syndrome

Coarse facial features

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