How Do You Spell FACIOGENITAL DYSPLASIA?

Pronunciation: [fˈe͡ɪsɪˌə͡ʊd͡ʒnɪtə͡l dɪsplˈe͡ɪzi͡ə] (IPA)

Faciogenital dysplasia, also known as Aarskog-Scott syndrome, is a rare genetic disorder that affects growth and development. The spelling of this word can be explained through the use of the IPA phonetic transcription. The first syllable, "fa-shee-oh," is pronounced with a short 'a' sound and a soft 'sh' sound. The second syllable, "jen-i-tuhl," is pronounced with a soft 'g' sound and a short 'i' sound. The final syllable, "diss-play-zhuh," has a silent 'y' and is pronounced with a soft 's' sound and a 'zh' sound, which is like the 's' in 'pleasure'.

FACIOGENITAL DYSPLASIA Meaning and Definition

  1. Faciogenital dysplasia, also known as Aarskog-Scott syndrome, is a rare genetic disorder characterized by a combination of distinctive facial features, genital abnormalities, and skeletal anomalies. This condition primarily affects males, although some cases have been observed in females, albeit to a lesser extent.

    Individuals with faciogenital dysplasia typically possess certain distinct facial characteristics, including a broad forehead, wide-set eyes, a flattened nasal bridge, a short upturned nose, and a prominent space between the upper lip and nose. Additionally, they may have drooping eyelids, a small chin, and an abnormally-shaped outer ear.

    Genital anomalies commonly associated with this condition include an unusually small penis (micropenis) and a testicular abnormality called cryptorchidism, wherein the testes fail to properly descend into the scrotum. These features can potentially lead to fertility issues later in life.

    Furthermore, skeletal abnormalities frequently observed in individuals with faciogenital dysplasia may involve short stature, a broad chest, and joint hypermobility. Additionally, some affected individuals may have extra fingers or toes, a condition known as polydactyly.

    Faciogenital dysplasia is a genetic disorder caused by mutations in the FGD1 gene, inherited in an X-linked recessive manner. As a result, the condition is typically more severe in males than in females.

    The diagnosis of faciogenital dysplasia is typically based on clinical findings, family history, and genetic testing. While there is currently no cure for this condition, treatment aims to manage the symptoms and associated complications. This may involve surgical procedures to correct genital anomalies, hormonal therapy to enhance growth and development, and physical therapy to manage joint-related problems. Regular medical monitoring

Common Misspellings for FACIOGENITAL DYSPLASIA

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Etymology of FACIOGENITAL DYSPLASIA

The term "faciogenital dysplasia" is a medical term used to describe a genetic disorder, also known as Aarskog-Scott syndrome.

The etymology of this term can be broken down as follows:

1. Facio: From the Latin word "facies", meaning "face". This term refers to the characteristic facial features associated with the disorder.

2. Genital: From the Latin word "genitale", related to "genitus", meaning "begotten" or "born". In this context, it refers to the abnormalities that can occur in the genital region of individuals with this syndrome.

3. Dysplasia: From the Greek words "dys", meaning "bad" or "abnormal", and "plasis", meaning "formation". It indicates the abnormal development or growth seen in affected individuals.

Plural form of FACIOGENITAL DYSPLASIA is FACIOGENITAL DYSPLASIAS

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