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347 Possible Causes for short, Small Pinnae, Upturned Nose

  • Spondyloepiphyseal Dysplasia, Cantu Type

    […] thorax Head And Neck Ears: small pinnae Skin Nails Hair Hair: abundant thick, curly scalp hair abundant and curly eyelashes abundant and curly eyebrows increased hair on[malacards.org] We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[scholar.um5.ac.ma] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Blepharophimosis Narrow opening between the eyelids 0000581 Brachydactyly Short fingers or toes 0001156[rarediseases.info.nih.gov]

  • Spondylocarpotarsal Synostosis

    Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins[humangenetik-regensburg.de] We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent[ncbi.nlm.nih.gov] Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip[rarediseases.info.nih.gov]

  • Robinow Syndrome

    In addition, the ears may be set low on the head or have a deformed pinna. Patients suffer from dwarfism, short lower arms, small feet, and small hands.[en.wikipedia.org] 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] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    In addition, the ears may be set low on the head or have a deformed pinna. Patients suffer from dwarfism, short lower arms, small feet, and small hands.[en.wikipedia.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]

  • Metaphyseal Acroscyphodysplasia

    The femoral diaphyses are very short and broad, and there is progressive coxa valga.[ncbi.nlm.nih.gov] Hypercalciuria Delayed gross motor development Erythrodontia Underdeveloped nasal alae Hyporeflexia Constipation Hyperactivity Polydactyly Attention deficit hyperactivity disorder Microtia[mendelian.co] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal recessive inheritance 0000007 Biconcave vertebral bodies 0004586 Cone-shaped epiphyses of the[rarediseases.info.nih.gov]

  • SPONASTRIME Dysplasia

    […] paraplegia 76 hereditary spastic paraplegia 77 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B Hermansky-Pudlak syndrome hydrolethalus syndrome hypertelorism, microtia[rgd.mcw.edu] KEYWORDS: SPONASTRIME dysplasia; short dental roots; hypogammaglobulinemia; cataracts; JOURNAL: American Journal of Medical Genetics Part A SOURCE: Wiley journal DOI: 10.1002[kns.cnki.net] nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild[orpha.net]

  • Pallister-Hall Syndrome

    Mutations that cause Pallister–Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein.[en.wikipedia.org] Synopsis systemic anomalies intrauterine growth retardation neonatal death craniofacial anomalies simple auricles absent external auditory canals microtia posteriorly rotated[humpath.com] […] with upturned nostrils with a flat or broad nasal bridge.[ucsdguardian.org]

  • Cerebellotrigeminal Dermal Dysplasia

    In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[en.wikipedia.org] […] urinary system Dental crowding Dental malocclusion Renal agenesis Postaxial polydactyly Wide nose Pulmonary hypoplasia Vaginal atresia Laryngeal stenosis Abnormality of the pinna[mendelian.co] His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set[ncbi.nlm.nih.gov]

  • Jacobsen Syndrome

    Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.[ncbi.nlm.nih.gov] […] skull deformities: trigonocephaly 5 hypertelorism ptosis coloboma downslanting palpebral fissures epicanthal folds broad nasal bridge short nose v-shaped mouth small ears: microtia[radiopaedia.org] They may have folding of the skin near the eye, a short, upturned nose or thin lips that curve inward. They may also have mild to severe intellectual disabilities.[content.achhabachha.com]

  • Smith Lemli Opitz Syndrome

    In the latter case, patients may present with microtia and atresia of the external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic[journals.lww.com] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com]

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