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1,054 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Thin, Long, Pointed Nose

Did you mean: Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD, Thin, Long, Pointed Nose

  • Kaufman Oculocerebrofacial Syndrome

    , and long thin hands and feet.[ncbi.nlm.nih.gov] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] The nose has a narrow bridge, a wide base, and nostrils that open to the front rather than downward ( anteverted nares ).[ghr.nlm.nih.gov] Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.[orpha.net] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • Chromosome 19q13.11 Deletion Syndrome

    […] shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Finger syndactyly 0006101 High forehead 0000348 Hypotrichosis Sparse hair since birth 0001006 Long[rarediseases.info.nih.gov] The D1 domain of Type I KIR2D and of KIR3D proteins is 102 amino acid residues long, while the D2 domain of all KIR proteins is 98 amino acid residues long (8).[ebi.ac.uk] , columella below alae nasi, thin lips, low set ears with large lobules ( b ), and cutis aplasia in midline of scalp ( c ).[nature.com] 1p36/19q13 Probe Set with ZyBlack Quenching Solution ZytoLight Glioma 1p/19q Probe Set Deletions affecting the short arm of chromosome 1 (1p36) and the long arm of chromosome[generon.co.uk] […] lips 10/10 Retro-micrognathia - 11/12 Large ears or low-set ears 11/11 Signs of ectodermal dysplasia Aplasia cutis in midline of scalp - - 9/11 Thin/dry skin - - 6/8 Thin-sparse[molecularcytogenetics.biomedcentral.com]

    Missing: Microcephaly (2-3 SD) Pointed Nose
  • Sinusitis

    Endoscopic debridement combined with long-term oral voriconazole was an effective treatment strategy in this series.[ncbi.nlm.nih.gov] Sluder's neuralgia (pain/pressure over the face due to a pressure point in the nose) is usually caused by a deviated septum which when corrected, completely alleviates all[fauquierent.net] They’re lined with a thin membrane that produces mucus which is normally drained into the nasal cavity.[home.bt.com] At some point, your provider will consider: Other prescription medicines More testing Referral to an ear, nose, and throat or allergy specialist Other treatments for sinusitis[nlm.nih.gov] The patient was managed with conservative surgery and long-term oral voriconazole.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis[ncbi.nlm.nih.gov] (A) Prominent nose and micronathia. (B) Small, widely space pointed teeth.Address correspondence to Dr. Naomi Webber, M.R.C.P.C.H.[documents.tips] Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary[ncbi.nlm.nih.gov] He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet.[jcrpe.org] […] long bones [ more ] 0003100 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent[rarediseases.info.nih.gov]

    Missing: Cutaneous Syndactyly of Digits
  • Anorexia Nervosa

    OBJECTIVE: The objective of this study was to investigate predictors of long-term recovery from eating disorders 22 years after entry into a longitudinal study.[ncbi.nlm.nih.gov] At one point she was on an IV and doctors "tried to put a tube down her nose," said her father, still shaken by the trauma.[abcnews.go.com] Although the duration of low BMI is also longer for constitutionally thin girls, similar BMD values of AN and constitutionally thin female groups are attributed to the additional[ncbi.nlm.nih.gov] This study aimed to investigate the presence of WM microstructure alterations in women long-term recovered from AN.[ncbi.nlm.nih.gov] Self-reported symptoms were collected in 35 nonmedicated acutely ill, 33 long-term recovered patients and 62 healthy females.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Cystic Fibrosis

    In 2001, we introduced long-term, low-dose azithromycin (AZ) treatment as an integral part of our routine treatment of these patients.[ncbi.nlm.nih.gov] The most common side effects with Kalydeco (which may affect more than 1 in 10 people) are headache, sore throat, upper respiratory tract infection (nose and throat infection[ema.europa.eu] […] cystic fibrosis must take pancreatic enzymes to digest food and absorb nutrients 30% of female adults with cystic fibrosis and 17% of male adults with CF are classified as underweight[web.archive.org] Your doctor may prescribe mucus-thinning medicines to reduce the stickiness of your mucus and loosen it up.[medicinenet.com] There should be information on the effect of long‐term use on quality of life and survival.[doi.org]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Malpuech Syndrome

    In our case 4, only the tibiae were shortened and bowed, all other long tubular bones being normal. In case 1 all long tubular bones were bowed in their midportion.[slideheaven.com] […] small pointed jaw, and convergent strabismus.[findzebra.com] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Long-term follow-up revealed psychiatric manifestations starting at young age.[ncbi.nlm.nih.gov] Oculodentodigital Syndrome ( Autosomal dominant, syndactyly, camptodactyly of 5th finger, thin hypoplastic nose) Pena- Shokeir II Syndrome.[fetalultrasound.com]

  • Bronchitis

    Despite peritoneal dialysis being the preferred mode of renal replacement therapy in neonates and infants, long-term haemodialysis may be necessary in a minority of patients[ncbi.nlm.nih.gov] Nasal congestion – Your nasal passages may be similarly inflamed or irritated as your lungs, which results in a runny nose.[plushcare.com] Eight to 12 glasses a day helps thin out your mucus and makes it easier to cough it up. Get plenty of rest. Take over-the-counter pain relievers.[webmd.com] All records in the Register coded as 'COPD' were searched using the following strategy: ((bronchodilator* AND long*) OR ((beta* AND agonist*) AND long‐acting OR "long acting[doi.org] Hydration – drinking liquids will thin out mucus and make coughs more productive.[myphysiciansnow.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Anorexia

    The disease and treatment are relatively long lasting and long term, but most individuals will get better.[healthychildren.org] At one point she was on an IV and doctors "tried to put a tube down her nose," said her father, still shaken by the trauma.[abcnews.go.com] The constant validation made me never want to leave my underweight body, though something within me knew it wasn't sustainable.[refinery29.com] "The problem has been — do we know what the specific genes are … and that's what's taken us so long."[abc.net.au] Underweight women often stop menstruating and it can have long-term consequences on their health.[eatingdisorderhope.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Pterygium

    PURPOSE: To examine to the very long term prognosis (16 years in average) of pterygium surgery with superior or inferior conjunctival graft.[ncbi.nlm.nih.gov] People with a pterygium have a fleshy growth of tissue on the white of the eye usually on the side closest to the nose.[keywhitman.com] An OCM graft at the scleral thinning area and conjunctival autograft (CAU) were performed on both patients.[ncbi.nlm.nih.gov] Some pterygia can stop growing after a long period of growth. Pterygiums have a stationary (inactive) phase and a more advanced rapid growing phase.[eyephysiciansoflongbeach.com] People with pterygium have a growth of pink, fleshy tissue on the white of the eye, which usually forms on the side of the eye closest to the nose.[londoneyeunit.co.uk]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)

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