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693 Possible Causes for Hypertelorism, low set, Malformed Ears

  • Patau Syndrome

    Nose: absent, malformed or proboscis (prominent). Ears: malformed ears. Eye: structural eye defects (microphthalmia, iris coloboma or even absence of the eyes).[] The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Noonan Syndrome

    This condition is associated with short stature, heart defects, bleeding disorders, delayed puberty, and skeletal malformations.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[] […] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).[]

  • Turner Syndrome

    Hearing and ear problems : Malformation of the ears and middle ear infections that can result in conductive hearing loss are more common in girls with Turner syndrome.[] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[]

  • Pelviscapular Dysplasia

    ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline.[] UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[] List: Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set[]

  • Mandibulofacial Dysostosis

    The present study has established a relationship between the severity of the microtic auricle and middle ear malformation in those syndromes.[] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[] An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[]

  • Saethre-Chotzen Syndrome

    A number of twist -null heterozygous mice present skull and limb defects and, in addition, we observed other malformations, such as defects in middle ear formation and the[] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[] (13 of 24), prominent nasal bridge (13 of 24), ptosis of the eyelids (12 of 24), and low-set frontal hairline (12 of 24).[]

  • Aarskog Syndrome

    malformation 0008572 Finger syndactyly 0006101 High anterior hairline High frontal hairline 0009890 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable[] Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia.[] set and protuberant ears, maxillary hypoplasia and transverse crease below the lower lip.[]

  • Wolf Hirschhorn Syndrome

    Other common findings include small head (microcephaly); eye differences (turning in or out of the eyes, droopy eyelids, eye malformations); ear differences (small, simple[] BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation.[] […] dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped mouth; microretrognathia; and large, simply modeled, low-set[]

  • Branchio-Oculo-Facial Syndrome

    We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and[] These abnormalities include a cleft lip, a cleft palate which is an opening in the roof of the mouth, widely spaced eyes ( hypertelorism ), sharp corners of the mouth that[] We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated[]

  • Smith-Magenis Syndrome

    The phenotype was later expanded to include brachycephaly, midfacial hypoplasia, broad nasal bridge, highly arched palate, mandibular prognathism, malformed ears, short hands[] The patient had hypertelorism, exotropia, and high myopia.[] Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set[]

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