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CHOPS syndrome CHOPS C ognitive impairment, c oarse facial features, H eart defects, O besity, lung - P ulmonary-refers to the characteristics of the disease, including cognitive decline characteristic facial features, cardiac defects, obesity, lung problemsshort and skeletal abnormalities. Children with CHOPS syndrome have intellectual disabilities and delayed development of skills such as sitting and walking.
Skip to search form Skip to main content. Klee and Ralitza H. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway. View on PubMed.
Coffin-Siris syndrome CSS is a rare genetic disorder that may be evident at birth congenital. The disorder may be characterized by abnormalities of the head and facial craniofacial area, resulting in a coarse facial appearance. Craniofacial malformations may include an abnormally small head microcephaly or large head macrocephaly ; a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes or excess hair growth in unusual places such as the back hypertrichosis ; and sparse scalp hair.
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Look up in Linguee Suggest as a translation of "coarse facial features" Copy. Coarse facial features missionhospitals. Rasgo s faciales t oscos missionhospitals.
Deep-set eyes with highly arched eyebrows have been described and poor fixation can be present. Cortical visual impairment has been described. The neurologic abnormalities become evident soon after birth.
Angiokeratoma — Mental Retardation — Coarse Face refers to a form of intellectual disability that is characterized mainly by problems with small blood vessels, below-average mental ability, and abnormal facial features. Individuals with this form of intellectual disability have small blood vessels that are more prone to burst, causing small harmless marks of red and blue marks on the skin. Individuals with this form of intellectual disability may also have problems with breathing and eating.
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Term Hierarchy. Phenotypic abnormality Abnormality of head or neck Abnormality of the head Abnormality of the face Abnormal facial shape Coarse facial features Pugilistic facies. Conditions with this feature.