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[9] [10] Genetic causes are linked with most craniofacial syndromes, and CL/P and other orofacial clefts are recognized as heterogeneous disorders, meaning there are multiple recognized causes. [9] [11] Orofacial clefts have great phenotypic diversity, and their associated genetic environments have called for vast research and investigation.
Feeding problems, impaired speech, and hearing loss are symptoms of a submucous cleft palate. [4] Furthermore, approximately 15% of VWS cases with orofacial clefts, in the absence of prominent lip pits, cannot be easily distinguished from non-syndromic forms of orofacial clefting. [7]
Orofacial clefts may be associated with a syndrome (syndromic) or may not be associated with a syndrome (nonsyndromic). Syndromic clefts are part of syndromes that are caused by a variety of factors such as environment and genetics or an unknown cause. Nonsyndromic clefts, which are not as common as syndromic clefts, also have a genetic cause. [31]
Language deficits are also associated with EEC syndrome and are attributed to two factors. Conductive hearing loss due to ossicular anomalies is often encountered in patients with EEC syndrome, which can have significant impacts on language acquisition. Also, the impaired cognitive functioning that sometimes accompanies EEC can inhibit language ...
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, [1] is a rare congenital syndrome.It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), [2] [3] growth deficiency, intellectual and developmental disability, and abnormalities ...
A medical geneticist usually makes the clinical diagnosis, which is confirmed with molecular testing. Reconstructive surgery is needed to repair facial deformities and obstructed nasal ducts. Importantly, the skin defects should not be treated with simple cauterization. Strabismus ("crossed eyes") may be corrected by surgery.
FACES syndrome is a syndrome of unique facial features , a norexia, c achexia, eye and skin anomalies. [ 1 ] It is a rare disease and estimated to occur in less than 1 in 1 million people.