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searching for Coarse facial features 21 found (26 total)

alternate case: coarse facial features

Fucosidase (867 words) [view diff] exact match in snippet view article find links to article

retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor
Winchester syndrome (1,265 words) [view diff] exact match in snippet view article find links to article
stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet
Kahrizi syndrome (363 words) [view diff] exact match in snippet view article find links to article
identified by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features caused by a homozygous mutation in the SRD5A3 gene. Human traits
Galactosialidosis (1,700 words) [view diff] exact match in snippet view article find links to article
Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis
Tetrasomy X (4,712 words) [view diff] no match in snippet view article find links to article
with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height
Rudiger syndrome (214 words) [view diff] exact match in snippet view article find links to article
Passarge E (December 1971). "Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula,
Sialidosis (529 words) [view diff] exact match in snippet view article find links to article
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
Sly syndrome (596 words) [view diff] exact match in snippet view article find links to article
Symptoms can include an enlarged head, fluid buildup in the brain, coarse facial features, enlarged tongue, enlarged liver, enlarged spleen, problems with
Pseudo-Hurler polydystrophy (400 words) [view diff] exact match in snippet view article find links to article
retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic
Fucosidosis (840 words) [view diff] exact match in snippet view article find links to article
considered the most severe of the three types. Symptoms include: Coarse facial features Enlarged liver, spleen, and/or heart Intellectual disability Seizures
Blau syndrome (975 words) [view diff] exact match in snippet view article find links to article
Blau syndrome Other names Arthrocutaneouveal granulomatosis Coarse facial features in a boy with Blau syndrome Specialty Dermatology
Coffin–Siris syndrome (592 words) [view diff] exact match in snippet view article find links to article
during infancy hypotonia joint laxity delayed bone age microcephaly coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes
I-cell disease (990 words) [view diff] exact match in snippet view article find links to article
disorder. Some physical signs, such as abnormal skeletal development, coarse facial features, and restricted joint movement, may be present at birth. Children
Maroteaux–Lamy syndrome (1,135 words) [view diff] exact match in snippet view article find links to article
Endocrinology  Symptoms Variable. May include: Macrocephaly, Hydrocephalus, Coarse facial features, Heart valve disease, Enlarged liver and spleen, Umbilical hernia
GAPO syndrome (1,054 words) [view diff] exact match in snippet view article find links to article
While not a defining feature, most sufferers of GAPO syndrome have coarse facial features, and abnormal structure of the middle portion of their faces, typically
Beta-glucuronidase (2,641 words) [view diff] exact match in snippet view article find links to article
prior to birth. In addition, mental retardation, short stature, coarse facial features, spinal abnormalities, and enlargement of liver and spleen are observed
PIK3C2A (1,138 words) [view diff] exact match in snippet view article find links to article
The clinical features of this syndrome include short stature, coarse facial features, cataracts with secondary glaucoma, multiple skeletal abnormalities
Sanfilippo syndrome (2,434 words) [view diff] exact match in snippet view article find links to article
in moderate to severe individuals. Other characteristics include coarse facial features, thick lips, synophrys, and stiff joints.[citation needed] It is
Wilson–Turner syndrome (2,222 words) [view diff] exact match in snippet view article find links to article
individuals have a larger stature, head, and chin, in addition to coarse facial features. Unlike the females in Wilson's study, these females showed signs
Hypopituitarism (4,441 words) [view diff] exact match in snippet view article find links to article
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
Sergei Rachmaninoff (12,933 words) [view diff] exact match in snippet view article find links to article
1), at a time when he was recording his four piano concerti, the coarse facial features of acromegaly are not immediately apparent. However, a case can