A potential FAS patient first presents to the doctor undifferentiated - general, non-specific - problems. There are many Syndrome's which have symptoms similar to FAS. Some of the differential diagnosis' that might have similar signs include, but aren't limited to Fragile X Syndrome, Velocardialfacial Syndrome, Turner Syndrome, Optitz Syndrome, Williams Syndrome, Noonan Syndrome, Dubowitz Syndrome, and Fetal Dilantin Syndrome. It is the doctor's job to sort out and categorize the symptoms in order to make the actual diagnosis.
Fragile X Syndrome
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation.
Velocardialfacial Syndrome
The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell mediated response that in some patients is due to an absent or hypoplastic thymus.
Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Autoimmune disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features (Secondary or Tertiary). Abnormal Facial Features.
Williams Syndrome
Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. May be disguised as Alcohol-related neurodevelopmental disorder.
Noonan Syndrome
Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrom (and is still sometimes described in this way) however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.
Dubowitz Syndrome
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance (small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.) Symptoms vary among patients, but other characteristics include a soft, high pitched voice; partial webbing of fingers and toes; palate deformations; genital abnormalities; eczema; hyperactivity; preference for concrete thinking over abstract; language difficulties and aversion to crowds.
Fetal Dilantin Syndrome
About one third of children whose mothers are taking this drug (Dilantin) during pregnancy typically have children who have intrauterine growth restriction with microcephaly and develop minor dysmorphic craniofacial features and limb defects including hypoplastic nails and distal phalanges (birth defects). A smaller population will have growth problems and developmental delay, or mental retardation. Rare side effects include methemog lobinemia.
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