Features of Stickler syndrome type II include : sensorineural hearing loss, facial features ( flat facial profile, anteverted nares, micrognathia ), cleft palate, visual disturbances ( type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment ), spondyloepiphyseal dysplasia, and arthropathy.
12.
Their facial / cranial proportions and facial features are abnormal, characterized by larger-than-normal eyes, a thin, beaked nose, thin lips, small chin and jaw ( micrognathia ), protruding ears, scalp hair, eyebrows, and lashes, large head, large fontanelle and generally appearing aged.
13.
Other indicators include ( but are not limited to ) : hypersomnolence, obesity BMI > 30, large neck circumference ( in women, in men ), enlarged tonsils and large tongue volume, micrognathia, morning headaches, irritability / mood-swings / depression, learning and / or memory difficulties, and sexual dysfunction.
14.
Photosensitivity and hyperkeratosis have been associated with PD . Abnormal facial characteristics, consisting of pronounced eyes which are spaced far apart ( hypertelorism ), a high forehead, a compressed bridge of the nose or saddle nose, and a small lower jaw and chin ( micrognathia ), are also observed in the majority of cases.
15.
Individuals with RD exhibit growth retardation starting in the uterus, tight and rigid skin with erosions, prominent super�cial epidermal hyperkeratosis, abnormal facial features ( small mouth, small pinched nose and micrognathia ), sparse or absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia and multiple joint contractures.
16.
Wolf-Hirschhorn syndrome ( WHS ), caused by a chromosomal abnormality, is characterized by typical craniofacial features in infancy consisting of " Greek warrior helmet appearance " of the nose ( the broad bridge of the nose continuing to the forehead ), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits / tags.
17.
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 ).
18.
On September 23, 1998 at the Hospital Injury Research and Rehabilitation at the University of S�o Paulo in Bauru, Brazil report on two boys, monozygotic twins born to normal and non consanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development.
19.
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.
20.
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.
