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567 Possible Causes for Hypertelorism, short, Upturned Nose

  • Aarskog-Scott Syndrome

    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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] 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

    Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[whonamedit.com] A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism[ncbi.nlm.nih.gov] 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]

  • Pallister-Killian Syndrome

    Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios[ncbi.nlm.nih.gov] 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]

  • 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] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[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]

  • Autosomal-Recessive Robinow Syndrome

    In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[ncbi.nlm.nih.gov] The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large[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]

  • 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] [acro- dysostosis] Acrodysostosis An autosomal dominant condition which primarily affects bone and is characterised by ocular hypertelorism, brachycephaly, small upturned[medical-dictionary.thefreedictionary.com]

  • Spondylocarpotarsal Synostosis

    The patient's father has mild short stature and unilateral hip dysplasia.[ncbi.nlm.nih.gov] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[medical-dictionary.thefreedictionary.com] 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]

  • Trisomy 12p

    A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported.[moh-it.pure.elsevier.com] Affiliated tissues include skin , heart and eye , and related phenotypes are malar flattening and hypertelorism[malacards.org] 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]

  • Cerebellotrigeminal Dermal Dysplasia

    In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[en.wikipedia.org] We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and[ncbi.nlm.nih.gov] His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set[ncbi.nlm.nih.gov]

  • Jacobsen Syndrome

    ., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and congenital heart[accessanesthesiology.mhmedical.com] Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus[ncbi.nlm.nih.gov] 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]

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