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99 Possible Causes for Dysmorphic Face, Low Set Ears, Widely Spaced Nipples

  • Turner Syndrome

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Anxiety Excessive, persistent[rarediseases.info.nih.gov] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[web.archive.org] […] worry and fear 0000739 Aortic arch aneurysm 0005113 Broad neck Increased width of neck Wide neck [ more ] 0000475 Dermatoglyphic ridges abnormal 0005689 Elevated hepatic[rarediseases.info.nih.gov]

  • Noonan Syndrome

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Abnormal bleeding Bleeding[rarediseases.info.nih.gov] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[medicowesome.com] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov]

  • Trisomy 9

    Some affected infants may also have a short, webbed neck; a highly arched roof of the mouth (palate); and/or widely spaced nipples.[rarediseases.org] A patient with partial trisomy 9 (47,XX, 9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable[ncbi.nlm.nih.gov] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov]

  • SHORT Syndrome

    set ears, small teeth, and small nose).[icd10data.com] Turner syndrome: The most common sex chromosome disorder in females, characterized by short stature, webbed neck, broad shield-like chest, wide-spaced nipples, increased carrying[medicinenet.com] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov]

  • Cerebro-Facio-Thoracic Dysplasia

    MorphologicalEpicanthus 2 2 2 2Hypertelorism Broad short nose Short neck Low-set, posteriorlyangulated ears Synophrys 2 2 Flat face Low hairline 2 Narrow forehead ? ?[docslide.com.br] Wieczorek Dagmar - - 2003 We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned[biomedsearch.com] […] and neuropathy Multiple congenital anomalies (MCA) Congenital contractures of the limbs and face (CLIFAHDD) Multiple congenital anomalies (MCA) Congenital disorder of glycosylation[genomediagnosticsnijmegen.nl]

  • Klinefelter Syndrome

    We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears.[ncbi.nlm.nih.gov] On physical exam she was noted to have a low hairline, wide spaced nipples. What would be the best first study to perform on this patient?[meddean.luc.edu] […] eyes 0 143 2 25 20 23 Epicanthal folds 1 143 6 25 16 19 Upturned nose 0 143 0 25 5 23 Low-set ears 0 143 1 25 2 21 Malformed ears 0 143 1 25 11 21 Strabismus 0 143 2 25 11[glowm.com]

  • Skeletal Dysplasia

    Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced[ncbi.nlm.nih.gov] The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly[ncbi.nlm.nih.gov] set ears Better vertebrae ossification, uniformed ossified fibula, metacarpals and phalanges FLNB AD Boomerang dysplasia (# 112310) Hypertelorism, flat nose, hypoplastic[scielo.br]

  • Pallister-Killian Syndrome

    PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse[pkskids.net] These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[ncbi.nlm.nih.gov] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net]

  • Pallister W Syndrome

    Girls with Turner syndrome usually have a low hairline at the back of the neck, minor differences in the shape and position of the ears, a broad chest with widely spaced nipples[chw.org] The postmortem examination revealed dolicocephaly and low set ears. On dissection of the heart, dilatation of right ventricle was noted.[synapse.koreamed.org] Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds and a flat[en.wikipedia.org]

  • Fraser Syndrome

    The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.[ncbi.nlm.nih.gov] ears Low set ears Lowset ears [ more ] 0000369 Micropenis Short penis Small penis [ more ] 0000054 Morphological abnormality of the middle ear Middle ear malformation 0008609[rarediseases.info.nih.gov] , orofacial clefting, mental retardation and musculoskeletal anomalies. 2 Prenatal diagnosis of bilateral anophthalmia by 3D “reverse face” view ultrasound and magnetic resonance[doi.org]

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