Coarse facial features information

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

the patient's vision. Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth...

with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height...

Symptoms can include an enlarged head, fluid buildup in the brain, coarse facial features, enlarged tongue, enlarged liver, enlarged spleen, problems with...

Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis...

stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet...

seen in moderate to severe cases. Other characteristics include coarser facial features, thicker lips, synophrys, and stiff joints. It is difficult to...

may be symptoms of acromegaly (enlargement of the hands and feet, coarse facial features), and if the tumor extends to the optic nerve or optic chiasm, there...

diagnosis of Blau syndrome is made by the presentation of classical clinical features and can be confirmed by genetic testing and biopsy. Laboratory and imaging...

identified by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features caused by a homozygous mutation in the SRD5A3 gene. Human traits...

abnormally high fussiness, exaggerated startle, microcephaly, coarse facial features, and eye lens dislocation. Trials of an experimental treatment are...

to live to within the third or fourth decade. Symptoms include: Coarse facial features Enlarged liver, spleen, and/or heart Intellectual disability Seizures...

1p36 deletion syndrome Coffin-Siris syndrome 12 Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature...

get into and out of skin-tight clothing. Pubic hair is a collection of coarse hair found in the pubic region. It will often also grow on the thighs and...

throughout the body is noted at birth. These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the...

Passarge E (December 1971). "Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula,...

idiopathic periocular crusting, dermatophytosis (ringworm), facial fold pyoderma, idiopathic facial dermatitis, multiple epitrichial cysts (eyelids) Ocular...

not a defining feature, most individuals with GAPO syndrome have coarse facial features, and abnormal structure of the middle portion of their faces, typically...

recurrent cold staphylococcal abscesses, recurrent lung infections, coarse facial features, primary teeth remnants (2 rows of teeth present), high IgE levels...

associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities...