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184 Possible Causes for Large Anterior Fontanels, short, Upturned Nose

  • Autosomal-Recessive Robinow Syndrome

    Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome-[checkorphan.org] In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[ncbi.nlm.nih.gov] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[orpha.net]

  • Cerebellotrigeminal Dermal Dysplasia

    Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy.[ihop-net.org] In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[en.wikipedia.org] His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    anterior fontanel. ( 27544718 ) ParA ltay E....A9zkan B. 2016 7 Identifying Aarskog Syndrome. ( 28209013 ) Ahmed A...Hasoon U 2016 8 Identification of novel mutations in[malacards.org] 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov] anterior fontanel. ( 27544718 ) ParA ltay E....A9zkan B. 2016 6 Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 ) PAcrez-Coria[malacards.org]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[ibis-birthdefects.org] In this figure of the same infant note the marked frontal bossing, the large anterior fontanelle, the short nose, long philtrum, and micrognathia. 3.39 Figure 3.39.[rrnursingschool.biz]

  • Coffin-Lowry Syndrome

    A persistent large anterior fontanel beyond the age of two years may be another associated finding.[ncbi.nlm.nih.gov] Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[whonamedit.com] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide fingers [ more ] 0001500 Coarse[rarediseases.info.nih.gov]

  • Acrocallosal Syndrome

    anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth[ncbi.nlm.nih.gov] Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose[orpha.net] Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    Infants present with characteristic dysmorphic craniofacial features (flattened facies, large anterior fontanel, split sutures, prominent high forehead, flattened occiput,[orpha.net] […] congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short[ncbi.nlm.nih.gov] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia of the corpus callosum 0007370 Areflexia Absent tendon reflexes 0001284 Autosomal recessive[rarediseases.info.nih.gov]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    anterior fontanel Other malformations.[ncbi.nlm.nih.gov] Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones Click here to view Abdominal and cranial ultrasonography[jcnonweb.com] Symptoms - Rhizomelic chondrodysplasia punctata- type 2 Low nose bridge Broad nose bridge Anteverted nostrils Cataracts Short arms Causes - Rhizomelic chondrodysplasia punctata[checkorphan.org]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010 ).[mendelian.co] This gives the appearance of an upturned nose (upturned nasal tip).[ncbi.nlm.nih.gov] In other cases wide-set eyes (telecanthus), a small nose with upturned (anteverted) nostrils, abnormally shaped ears, excessive neck skin, short hands, diminished muscle tone[rarediseases.org]

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