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252 Possible Causes for Bulbous Nose, Cleft Palate, Low Set Ears

  • Velocardiofacial Syndrome

    PARTICIPANTS: Eight children with VCFS and five children with nonsyndromic cleft palate or VPD.[ncbi.nlm.nih.gov] The more common signs include: Cleft palate Heart problems Long face Nose with a bulbous tip and small nostrils Immune system problems Long fingers Speech disturbance Dental[ucsfbenioffchildrens.org] […] eyes, hypertelorism or low-set ears.[syndromepictures.com]

  • Mandibulofacial Dysostosis

    palate.[ncbi.nlm.nih.gov] In some cases, the tip of the nose is rounded (bulbous) and the nostrils point upward giving the appearance of an upturned nose (anteverted nares).[rarediseases.org] 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[nlm.nih.gov]

  • Trisomy 9

    Abstract 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[ncbi.nlm.nih.gov] The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia[ncbi.nlm.nih.gov] Craniofacial - Microcephaly, flat nasal bridge, epicanthic folds, micrognathia, low set ears and cleft palate. Bilateral cystic renal dysplasia, atretic ureters.[fetalultrasound.com]

  • Patau Syndrome

    It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] […] lip, and cleft palate.[learningaboutelectronics.com] Some of these anomalies are listed here: Craniofacial defects Scalp defects Low-set ears Cleft lip Cleft palate Bulbous nose Hypotelorism Micrognathia Limb defects Polydactyly[symptoma.com]

  • Renpenning Syndrome 1

    Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities.[malacards.org] set ears, small teeth, and small nose).[icd10data.com] About a fifth of the patients have major malformations, including cardiac defects, anal malformations, coloboma, and cleft palate.[cags.org.ae]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    The ears have been described as low-set and posteriorly rotated.[disorders.eyes.arizona.edu] cleft palate.[disorders.eyes.arizona.edu] IS Retinoblastoma-1 RB1 13q14.1-q14.2 180200 Retinoblastoma 180200 AD cleft palate, high forehead, prominent eyebrows, broad nasal bridge, bulbous tip of the nose, large[widesmiles2.org]

  • DiGeorge Syndrome

    We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital[ncbi.nlm.nih.gov] DNA was available from 174 cases with overt cleft palate.[ncbi.nlm.nih.gov] nose tip, heavy eyelids and/or a small mouth.[aaaai.org]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    palate, joint limitations, and hypothyroidism.[ncbi.nlm.nih.gov] Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with[orpha.net] Other minor facial features frequently observed in both types include “lazy” eye (amblyopia), crossed eyes (strabismus), low-set ears, a short distance between the upper lip[rarediseases.org]

  • Young Simpson Syndrome

    About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate.[familydiagnosis.com] nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit.[orpha.net] A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate.[ncbi.nlm.nih.gov]

  • Setleis Syndrome

    They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low-set ears.[ncbi.nlm.nih.gov] A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[books.google.es] nose, clefting of the chin, absent Meibomian glands, wrinkled facial skin, and a low frontal hairline.[symptoma.com]

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