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565 Possible Causes for Low-Set Posteriorly Rotated Ears, Multiple Buccal Frenula, Syndactyly between Adjacent Toes

  • Baller-Gerold Syndrome

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] , posteriorly rotated ears 0000368 Midface capillary hemangioma 0007452 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Optic atrophy 0000648[rarediseases.info.nih.gov] Low set posteriorly rotated ears (64%). Micrognathia (50%). Microstomia (32%). Limbs. Radial aplasia/hypoplasia (77%). Ulna, short and curved (68%).[fetalultrasound.com]

    Missing: Syndactyly between Adjacent Toes
  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov]

    Missing: Low-Set Posteriorly Rotated Ears
  • Craniosynostosis Type 3

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple[rrnursingschool.biz]

    Missing: Low-Set Posteriorly Rotated Ears
  • X-Linked Mandibulofacial Dysostosis

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] , posteriorly rotated ears 0000368 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference[rarediseases.info.nih.gov] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple[widesmiles2.org]

    Missing: Syndactyly between Adjacent Toes
  • Legius Syndrome

    Noonan like features include congenital heart problems, hyperextensibility, low muscle tone, low set and posteriorly rotated ears, deeply grooved philtrum, wide spaced eyes[inspire.com] Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck[admerahealth.com] set and posteriorly rotated ears, short and webbed neck, redundant skin, hypernasal voices and pectus abnormalities.[rasopathiesnet.org]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] […] and posteriorly rotated ears, deep-set eyes, long eyelashes, bulbous nose, wide and low-hanging collumella and short neck.[hormones.gr] , posteriorly rotated &/or prominent ears clinodactyly (inward curving) of the 5th finger (pinky)* syndactyly (webbing) of the 2nd and 3rd toes* inadequate catch-up growth[magicfoundation.org]

    Missing: Syndactyly between Adjacent Toes
  • Noonan Syndrome

    The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.[flybase.org] Definition A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly[uniprot.org] posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[orpha.net]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Autosomal Dominant Prognathism

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[en.wikibooks.org] , posteriorly rotated ears Gingival overgrowth Proximal placement of thumb Nasolacrimal duct obstruction Atypical scarring of skin Auricular pit Microdontia of primary teeth[mendelian.co] Low-set and posteriorly rotated ears have been reported as well. Both pectus excavatum and pectus carinatum have been described.[disorders.eyes.arizona.edu]

    Missing: Syndactyly between Adjacent Toes
  • Cerebro-Facio-Thoracic Dysplasia

    , posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.[unboundmedicine.com] Low-set, posteriorly rotated ears 0000368 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Microdontia of primary teeth Decreased[rarediseases.info.nih.gov] , posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics[scinapse.io]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Simpson Dysmorphia Syndrome

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Omphalocele / exomphalos - Pectus excavatum - Polyhydramnios - Scoliosis[csbg.cnb.csic.es] buccal frenula -microglossia -micrognathia -cleft palate -malformed ears describe waardenburg syndrome type I -autosomal dominant -wide nasal bridge -short philtrum -cleft[brainscape.com]

    Missing: Syndactyly between Adjacent Toes