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

  • Turner Syndrome

    It only affects females and can cause short stature, wide spaced nipple placement and congenital lymphedema (swelling of hands and feet).[adoption.umn.edu] Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears[medlineplus.gov] These include short stature, swelling, a broad chest, a low hairline, low set ears and a webbed neck.[house.wikia.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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”? .[nature.com]

  • SHORT Syndrome

    […] eyes, lack of facial fat, hypoplastic nasal alae with overhanging columella, mild midface hypoplasia, small chin, large low-set ears, thin Vermillion, and downtumed mouth[questia.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]

  • Cornelia De Lange Syndrome

    The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...[hon.ch] spaced central incisors, micrognathia and short extended neck Figure 2: Syndactyly of 2nd and 3rd fingers with simian crease Pectus excavatum with wide spaced nipples and[apicareonline.com] Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects.[ncbi.nlm.nih.gov]

  • Noonan Syndrome 1

    spaced nipples Pectus excavatum or pectus carinatum (up to 90% have both, usually pectus carinatum superiorly and pectus excavatum inferiorly) Scoliosis As patients age,[pedclerk.bsd.uchicago.edu] . - 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] Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.[care.com]

  • Hypogonadism

    spaced nipples, or multiple pigmented nevi) See Clinical Presentation for more detail.[emedicine.medscape.com] She may have very widely-spaced eyes with droopy eyelids, low-set ears, a webbed neck, and shield-shaped chest.[testocreams.com] On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined.[ncbi.nlm.nih.gov]

  • 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] […] feet and face, low birth weight and genetic study with e 48 XXYY karyotype.[actapediatrica.com]

  • Partial Trisomy 21

    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] […] hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set[ncbi.nlm.nih.gov] CLINICAL EXAMINATION 1 - Dysmorphic syndrome associating (to various extend): evocative face : frequent microcephaly, short neck, flat occiput and brachycephaly; moon-shaped[atlasgeneticsoncology.org]

  • 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] Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with[prezi.com] Facial dysmorphic features were present, including: a coarse face, a prominent forehead, bitemporally sparse hair, narrow and upslanted palpebral fissures, hypertelorism,[molecularcytogenetics.biomedcentral.com]

  • Aarskog Syndrome

    Nipples were low set bilaterally, and widely spaced.[bmcpediatr.biomedcentral.com] Low-set ears and thickened, fleshy earlobes. Delayed eruption of teeth Underdevelopment of the hard outer covering of teeth (enamel hypoplasia).[medcaretips.com] In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister.[ncbi.nlm.nih.gov]

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