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Results 1 - 6 of 6 for "ear," deformed OR Frank sign
  1. Diastrophic dysplasia 
    ... common in newborns and can lead to thickened, deformed ears.The signs and symptoms of diastrophic dysplasia are similar to ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  2. ALG12-congenital disorder of glycosylation 
    ... folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, ... 2002 Apr 30. Citation on PubMed Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  3. CASK-related intellectual disability 
    ... loss caused by nerve problems in the inner ear (sensorineural hearing loss), and most also have abnormalities ... upper jaw (maxilla); a short chin; and large ears.Individuals with MICPCH may have weak muscle tone ( ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  4. Hennekam syndrome 
    ... nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the ... Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  5. Carpenter syndrome 
    ... slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye ... and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  6. Renpenning syndrome 
    ... the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. ... Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics