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623 Possible Causes for short, Short Stature, Upturned Nose

  • Aarskog Syndrome

    At the age of 1.3 years, the child presented an unusual facial appearance and short stature.[doi.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] 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]

  • Coffin-Lowry Syndrome

    stature, soft fleshy hands with tapering fingers and skeletal abnormalities.[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]

  • 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] 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] It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities.[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation[ncbi.nlm.nih.gov] 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]

  • Acrodysostosis

    A 12 year old girl with acrodysostosis: a rare cause of short stature. Sri Lanka Journal of Child Health, 38(2), pp.72–73. DOI: Published on 11 Jul 2009.[sljch.sljol.info] In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils[ncbi.nlm.nih.gov] Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine[en.wikipedia.org]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature.[patient.info] However, its prevalence and optimal management is not yet clear because of the rarity of the disease and the prior short life span of these patients.[ncbi.nlm.nih.gov] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Costello Syndrome

    We report on a 10-yr-old Caucasian girl affected by Costello syndrome with fasting hypoglycemia and short stature, associated low circulating levels of acid-labile subunit[ncbi.nlm.nih.gov] Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] It affects multiple organ systems and includes severe failure-to-thrive, short stature, and macrocephaly.[ncbi.nlm.nih.gov]

  • SPONASTRIME Dysplasia

    Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio[ncbi.nlm.nih.gov] 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]

  • Cerebellotrigeminal Dermal Dysplasia

    Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly[ncbi.nlm.nih.gov] 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]

  • Williams Syndrome

    stature, and specific intellectual disabilities (such as visual spatial problems).[ncbi.nlm.nih.gov] A short-term longitudinal single case study was carried out spanning 10 months.[ncbi.nlm.nih.gov] nose Long ridges in the skin that run from the nose to the upper lip (philtrum) Prominent lips with an open mouth Skin that covers the inner corner of the eye ( epicanthal[web.archive.org]

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