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  2. Noonan syndrome - Wikipedia

    en.wikipedia.org/wiki/Noonan_syndrome

    The nose may be small, wide, and upturned. The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.

  3. Frontonasal dysplasia - Wikipedia

    en.wikipedia.org/wiki/Frontonasal_dysplasia

    Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...

  4. Fragile X syndrome - Wikipedia

    en.wikipedia.org/wiki/Fragile_X_syndrome

    Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.

  5. Kabuki syndrome - Wikipedia

    en.wikipedia.org/wiki/Kabuki_syndrome

    Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.

  6. Macroorchidism - Wikipedia

    en.wikipedia.org/wiki/Macroorchidism

    Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]

  7. Hypertelorism - Wikipedia

    en.wikipedia.org/wiki/Hypertelorism

    Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, [4] LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism, prominent inner third of the eyebrows ...

  8. Empty nose syndrome - Wikipedia

    en.wikipedia.org/wiki/Empty_nose_syndrome

    Empty nose syndrome (ENS) is a clinical syndrome, the hallmark symptom of which is a sensation of suffocation despite a clear airway. This syndrome is often referred to as a form of secondary atrophic rhinitis. ENS is a potential complication of nasal turbinate surgery or injury.

  9. Potter sequence - Wikipedia

    en.wikipedia.org/wiki/Potter_sequence

    Other anomalies of the classic Potter sequence infant include a parrot beak nose, redundant skin, and the most common characteristic of infants with BRA which is a skin fold of tissue extending from the medial canthus across the cheek. The ears are slightly low and pressed against the head making them appear large.

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