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564 Possible Causes for Hernia, short, Upturned Nose

  • Aarskog Syndrome

    Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3.[web.archive.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] […] posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia (CDH) and a micromelia of a rhizomelic type.[latunisiemedicale.com] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org]

  • Mucopolysaccharidosis 1H

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[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]

  • Autosomal-Recessive Robinow Syndrome

    Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism ; Hypoplastic labia majora ; Hypoplastic sacrum ; Inguinal hernia[mousephenotype.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]

  • Robinow Syndrome

    We present a 1 month-old infant with Robinow syndrome and large inguinal hernia, undescended testes and micropenis mimicking penile agenesis.[ncbi.nlm.nih.gov] 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]

  • Spondylocarpotarsal Synostosis

    An autosomal recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and[medical-dictionary.thefreedictionary.com] 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-Like Syndrome

    […] pinky finger [ more ] 0004220 Short palm 0004279 Thoracic hemivertebrae 0008467 Thoracolumbar scoliosis 0002944 Triangular mouth Triangular shaped mouth 0000207 Umbilical hernia[rarediseases.info.nih.gov] […] hard palate 0010290 Short middle phalanx of the 5th finger Short middle bone of the little finger Short middle bone of the pinkie finger Short middle bone of the pinky finger[rarediseases.info.nih.gov] 1%-4% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bifid tongue Cleft tongue Split[rarediseases.info.nih.gov]

  • Cornelia De Lange Syndrome

    We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia.[ncbi.nlm.nih.gov] In conclusion, GH therapy may be effective and safe for short children with CdLS.[ncbi.nlm.nih.gov] nose.[symptoma.com]

  • Williams Syndrome

    She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[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]

  • SHORT Syndrome

    This is the first report indicating a role for BMP4 in SHORT syndrome, Axenfeld-Rieger malformation, growth delay, macrocephaly, and diaphragmatic hernia.[ncbi.nlm.nih.gov] SHORT syndrome is a very rare genetic disease that is distinguished by the simultaneous presence of a short stature, prominent hyperextensibility of the joints, inguinal hernia[symptoma.com] Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional[icd10data.com]

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