Create issue ticket

321 Possible Causes for short, Thick Lips, Upturned Nose

  • Costello Syndrome

    Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] Ultrasonographic morphological fetal face analysis found abnormal thickness of the skin in the prefrontal area, thick dysplastic ears, thick lips and deep-set creases in the[ncbi.nlm.nih.gov] lips, thick lobes, ears set low and large head), mental retardation, dry and thick leg, arm, feet and hand skin, and excessively flexible finger joints.[ic.steadyhealth.com]

  • Williams-Beuren Syndrome

    A short-term longitudinal single case study was carried out spanning 10 months.[ncbi.nlm.nih.gov] lips, small jaw, dental anomalies, hoarse voice, strabismus, stellate iris pattern, supravalvular aortic stenosis (SVAS), pulmonary artery stenosis, mitral valve prolapse[scielo.br] nose, long philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude Comments on Williams[merriam-webster.com]

  • Atkin Syndrome

    Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies[rarediseases.info.nih.gov] […] supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils[checkorphan.org] Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature , macrocephaly, and characteristic facies[rarediseases.info.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] lips, a thick nasal septum with anteverted nares, and irregular or missing teeth.[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]

  • 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[mendelian.co] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov] Micrognathia, a short upturned nose and a short philtrum were present. The blood pressure was 190/135 mm/hg. An echocardiogram demonstrated normal heart anatomy.[ped-rheum.biomedcentral.com]

  • 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[kns.cnki.net] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[rarediseases.info.nih.gov] nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild[orpha.net]

  • Aspartylglucosaminuria

    The nose is short and broad and the face is usually square-shaped.[ghr.nlm.nih.gov] lips and a square shape of face, was found to be present long before the coarsening begins.[ncbi.nlm.nih.gov] Progressive mental retardation is the main symptom, and the lifespan of the patient is abnormally short.[ncbi.nlm.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] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[ibis-birthdefects.org]

  • 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.[medcaretips.com] A large mouth with thick lips may also be present. There is slight protrusion of the eyes.[symptoma.com] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Spondyloepiphyseal Dysplasia Type Cantú

    We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[scholar.um5.ac.ma] lip Prominent lower lip [ more ] 0000179 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more[rarediseases.info.nih.gov] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org]

Similar symptoms