Some examples of the possible dysmorphic features include : downslanting palpebral fissures, broad nasal bridge, microcephaly, low-set ears, preauricular tags, round facies, short neck, micrognathia, and dental malocclusionhypertelorism, epicanthal folds, downturned corners of the mouth.
12.
The Mongoloid eyelid is characterized by puffiness of the upper eyelid, " superficial expansion of the levator aponeurosis " that are " turned up around this transverse ligament to become the orbital septum ", " low position of the preaponeurotic fat " and narrowness of the palpebral fissure.
13.
Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome ( dwarfism with high growth hormone and low somatomedin activity ), and other defects.
14.
The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint ( note-" squint " is a British term for two eyes not looking in the same direction ) is in fact Duane syndrome.
15.
AI originated as a heterogeneous syndrome but has been observed as homogeneous in the case of KTS . Other physical symptoms that some cases have presented with include broad thumbs and toes, microcephaly, coarse hair, mildly asymmetric skull, up slanting palpebral fissures which is where the outside corners of the eyes are higher than normal, and smooth philtrum which is where the upper lip does not have a dip in the center.
16.
Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects ( e . g ., ventricular septal defect [ VSD ], atrial septal defect [ ASD ], patent ductus arteriosus [ PDA ], tetralogy of Fallot ).
17.
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.
18.
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 ).
19.
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 ).
