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| noonan [2022/09/25 23:54] – Scott Larson | noonan [2025/06/14 04:17] (current) – [Resources] Scott Larson | ||
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| ====== Noonan Syndrome ====== | ====== Noonan Syndrome ====== | ||
| ====Main Features==== | ====Main Features==== | ||
| - | * Highly variable but most have short stature, mild intellectual disability or developmental delay | + | * Highly variable but most have short stature, mild intellectual disability or developmental delay and |
| * Characteristic faces | * Characteristic faces | ||
| * High forehead | * High forehead | ||
| * depressed nasal bridge | * depressed nasal bridge | ||
| * low-set posteriorly rotated ears with fleshy helices | * low-set posteriorly rotated ears with fleshy helices | ||
| + | <WRAP round box> | ||
| + | {{:: | ||
| + | {{:: | ||
| + | Photos from [[https:// | ||
| + | </ | ||
| ====Eye Findings==== | ====Eye Findings==== | ||
| Line 12: | Line 17: | ||
| * Hypertelorism | * Hypertelorism | ||
| * Downslanting palpebral fissures | * Downslanting palpebral fissures | ||
| - | * epicanthal | + | * Epicanthal |
| * Keratoconus | * Keratoconus | ||
| * vivid blue or blue-green iris | * vivid blue or blue-green iris | ||
| * Posterior embryotoxin | * Posterior embryotoxin | ||
| - | * cataract | + | * Cataract |
| * Strabismus | * Strabismus | ||
| - | * nystagmus | + | * Nystagmus |
| - | * optic nerve hypoplasia | + | * Optic nerve hypoplasia |
| - | * optic nerve coloboma | + | * Optic nerve coloboma |
| ====Other Findings==== | ====Other Findings==== | ||
| - | * | + | * Webbed or broad neck |
| + | * Chiari Malformation | ||
| + | * Hydrocephalus | ||
| + | * Macrocephaly | ||
| + | * Craniosynostosis | ||
| + | * Sensorineural deafness | ||
| + | * Conductive hearing loss | ||
| + | * Giant cell tumors of the jaw | ||
| + | * Sternal deformities | ||
| + | * pectus carinatum of the superior sternum | ||
| + | * pectus excavated of the inferior sternum | ||
| + | * Cardiovascular defects | ||
| + | * Pulmonic stenosis | ||
| + | * hypertrophic cardiomyopathy | ||
| + | * ASD | ||
| + | * VSD | ||
| + | * lymphatic dysplasia | ||
| + | * Chyptorchidism | ||
| + | * Infertility | ||
| + | * Hematologic abnormalities | ||
| + | * elevation in PT/PTT | ||
| + | * abnormal platelets, count and function | ||
| ====Etiology==== | ====Etiology==== | ||
| - | * | + | * Genetic disorder of the genes in the RAS-MAPK pathway |
| - | ====Reference==== | + | * PTPN11 (50%) |
| - | | + | * SOS1 (13%) |
| + | * RAF1 (5%) | ||
| + | * RIT1 (5%) | ||
| + | * others | ||
| + | * KRAS, BRAF, LZTR1, NRAS | ||
| + | * This pathway is important in cellular differentiation and proliferation | ||
| + | * Autosomal dominant inheritance most commonly with 2/3 denovo | ||
| + | * Associated with advanced paternal age | ||
| + | ====Resources==== | ||
| + | | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| {{tag> | {{tag> | ||