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525 Possible Causes for Anteverted Nostril, End-Plate Irregularities, Excessive Trabeculation in Right Ventricle

  • Roifman Syndrome

    […] within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected.[ncbi.nlm.nih.gov] […] that are flared forward (anteverted); a sunken (depressed) nasal bridge; and/or abnormally positioned (i.e. low-set, posteriorly rotated) ears.[rarediseases.org] […] and prominent trabeculations and deep intratrabecular recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular[unboundmedicine.com]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    Symptoms - Rhizomelic chondrodysplasia punctata- type 2 Low nose bridge Broad nose bridge Anteverted nostrils Cataracts Short arms Causes - Rhizomelic chondrodysplasia punctata[checkorphan.org] Alopecia, broad nasal bridge, anteverted nostrils, flat philtrum, thin upper lip. C.[scielo.conicyt.cl] (anteverted nares) and malformed (dysplastic) ears.[rarediseases.org]

    Missing: Excessive Trabeculation in Right Ventricle
  • Schmid Metaphyseal Chondrodysplasia

    Craniofacial phenotype is represented by stellate iris, periorbital oedema, flattening of nasal pyramid, short nose with anteverted nostrils, long philtrum, macrostomy, thick[intechopen.com] It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.[genecards.org] Short limbed rhizomelic dwarfism of late onset (2 - 4 yrs of age) Mild to moderate spinal deformity, normal craniofacial structure slight irregularities of vertebral end plates[orthopaedicsone.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

    Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] Moreover, they manifested abnormal vertebral growth and the severe premature degeneration was accompanied by severe erosions and irregularities of the anterior end-plates[medsci.org] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of[rarediseases.info.nih.gov]

    Missing: Excessive Trabeculation in Right Ventricle
  • Stickler Syndrome Type 2

    Symptoms - Stickler syndrome- type 2 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] Moreover, they manifested abnormal vertebral growth and the severe premature degeneration was accompanied by severe erosions and irregularities of the anterior end-plates[medsci.org] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of[rarediseases.info.nih.gov]

    Missing: Excessive Trabeculation in Right Ventricle
  • Aspartylglucosaminuria

    A skeletal survey revealed multiple anomalies including: widened ribs diffusely with end plate irregularities of mid‐thoracic vertebral bodies, mild genu valga bilaterally[onlinelibrary.wiley.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Acrocallosal Syndrome

    nostrils and broad nasal bridge.[orpha.net] C ) AP film of the knee in case IV-4 at six years of age showing flattening of the tibial and femoral epiphyses with some irregularities of the end plates of femoral epiphyses[ojrd.biomedcentral.com] Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle),[deepdyve.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

    nostrils, hypotrichosis, dental anomalies, camptodactyly, syndactyly, and missing phalanges of the toes. renal dysplasia a congenital disorder of the kidney, with persistence[medical-dictionary.thefreedictionary.com] […] of the end plates.[omicsonline.org] The girl had a dysmorphic flat face with hypertelorism, a small nose with a depressed nasal bridge, anteverted nostrils, down turned mouth corners and a thin upper lip.[raredisorders.imedpub.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Aarskog-Scott Syndrome

    The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.com]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle
  • Early Infantile Epileptic Encephalopathy Type 2

    Forms and Documents Test Details Genes: Expand Genes ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1,[…][genedx.com]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle

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