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194 Possible Causes for Coxa Valga, short, Upturned Nose

  • Coffin-Lowry Syndrome

    Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[] […] color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse hair Coarse hair texture 0002208 Coxa[] Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome.[]

  • Mucopolysaccharidosis 1H

    The spine develops thoracolumbar kyphosis and is short. The hands are short and thick and the fingers are stubby, with stiff flexed interphalangeal joints.[] The epiphyseal centers are not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[]

  • Metaphyseal Acroscyphodysplasia

    […] with cone-shaped epiphyses, short hands and feet, dental malocclusion.[] The femoral diaphyses are very short and broad, and there is progressive coxa valga.[] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal recessive inheritance 0000007 Biconcave vertebral bodies 0004586 Cone-shaped epiphyses of the[]

  • Hypertrichotic Osteochondrodysplasia

    Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[] Coxa Valga [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired.[] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad ribs Wide ribs[]

  • Autosomal-Recessive Robinow Syndrome

    In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[] valga / coxa vara / coxa plana - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Inguinal / inguinoscrotal / crural hernia - Intellectual[] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[]

  • Spondylocarpotarsal Synostosis

    The patient's father has mild short stature and unilateral hip dysplasia.[] Lordosis of distalthoracic and lumbar spine was noted in addition tobilateral coxa valga deformity. No spondylolisthesis orspondylolysis was identified.[] 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[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    KEYWORDS: SPONASTRIME dysplasia; short dental roots; hypogammaglobulinemia; cataracts; JOURNAL: American Journal of Medical Genetics Part A SOURCE: Wiley journal DOI: 10.1002[] Although a combination of these malformations superficially resembles that of sponastrime dysplasia, several skeletal alterations including coxa valga with proximal femoral[] nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild[]

  • Platyspondyly

    Pathology by systems Locomotory system Bones non-short-trunk chondrodysplasia with platyspondyly Thursday 16 November 2006 Types achondroplasia thanatophoric dysplasia (thanatophoric[] In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998 ).[] Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[]

  • Mucopolysaccharidosis

    valga, genu valgum, waddling gait, and laxity of joints.[] It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[] Clinical manifestations Upper airways Facial coarseness, hypertelorism, sunken nasal dorsum, anteverted nostrils, thickened lips, gingival hyperplasia [19] and dental distortions[]

  • Cerebellotrigeminal Dermal Dysplasia

    The father ofone of the 2 patients was reported to have iliac hypo-plasia, coxa valga and marked lordosis.[] In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[] His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set[]

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