Some physical malformations associated with Edwards syndrome include small head ( microcephaly ) accompanied by a prominent back portion of the head ( occiput ), low-set, malformed ears, abnormally small jaw ( micrognathia ), cleft lip / cleft palate, upturned nose, narrow eyelid folds ( palpebral fissures ), widely spaced eyes ( ocular hypertelorism ), drooping of the upper eyelids ( webbing of the second and third toes, clubfoot or rocker bottom feet, and in males, undescended testicles.
32.
13q deletion syndrome gives a characteristic appearance to affected individuals, potentially including microphthalmia ( small eyes ), hypertelorism ( wide-set eyes ), thin forehead, high palate, underdeveloped midface, small mouth, small nose, broad, flat nasal bridge, short neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia ( small jaw ), tooth enamel defects, short stature, microcephaly ( small head ), a prominent, long philtrum, and earlobes turned inwards.
33.
The cranial dysmorphisms associated with 3C syndrome are heterogeneous and include a degree of macrocephaly, a large anterior fontanel, a particularly prominent occiput and forehead, ocular hypertelorism ( wide-set eyes ), slanted palpebral fissures, cleft palate, a depressed nasal bridge, cleft palate with associated bifid uvula, Low-set ears are the most common cranial dysmorphism seen in 3C syndrome, and ocular coloboma is the least common of the non-concurrent symptoms ( cleft lip co-occurring with cleft palate is the least common ).
34.
A mutation in TAF1 was identified that contributes to a phenotype with severe intellectual disability ( ID ), a characteristic intergluteal crease, and distinctive facial features, including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin This is a non-synonymous change in TAF1 that results in an isoleucine ( hydrophobic ) to threonine ( polar ) change on the 1337th amino acid residue in the protein ( NP _ 001273003.1 ).
