WebDysmorphic features include a short nose, high-arched palate, low-set and posteriorly rotated ears, micrognathia, postaxial polydactyly, hirsutism, pectus carinatum, … WebPhysical characteristics include generalized hypotonia, flat facial profile, small ears, nose, and chin; and brachycephaly (short head), midfaced dysplasia, shortened oral and …
Entry - #605130 - WIEDEMANN-STEINER SYNDROME; WDSTS
Webcraniosynostosis (especially coronal), hypoplasia of midface, maxilla, or both, hypertelorism, facial assymetry, high arched palate, shllow oropharynx, long and thick soft palate, … Webvariability. Kyphoscoliosis, pectus carinatum, arachnoidactyly, high arched palate, hypermobility, lens dislocation. Progressive aortic root dilatation leading to aortic dissection. MV prolapse. Noonan’s Syndrome Short stature, hypertelorism, low-set ears, ptosis. AD inheritance / sporadic. PS (39%) / hypertrophic cardiomyopathy (10%) / ASD noaa weather big bend national park
Genetic Syndromes - Don
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue. While MPAs may have a genetic basis, they might also be caused by factors in the fetal environment: anoxia, bleeding, or infection. MPAs have been linked to disorders of pregnancy an… WebLimb Differences. The following are common features in people with CdLS: small hands and feet, incurved fifth fingers (clinodactyly), partial joining of the second and third toes, proximally placed thumbs, and upper limb abnormalities, including missing fingers, hands or forearms, and hip dislocation or dysplasia. WebThe Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, … nursing responsibilities for pap smear