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53 Possible Causes for Brachymesophalangy, Depressed Nasal Tip

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  • Kabuki Syndrome

    Musculo-skeletal anomalies include brachydactyly V, brachymesophalangy, clinodactyly of fifth digits, spine abnormalities and joint hypermobility and dislocations.[orpha.net] Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation[ncbi.nlm.nih.gov] nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures[rarediseases.info.nih.gov] Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed[rarediseases.info.nih.gov]

  • Fraser Syndrome

    We report on an 8-year-old Thai girl with bilateral complete cryptophthalmos, facial asymmetry, delayed bone age, brachymesophalangy and medial deviation of the second toes[ncbi.nlm.nih.gov] […] base with depressed nasal tip.[jclpca.org] Kantaputra P: Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome? Am J Med Genet 98:263–268, 2001.[link.springer.com]

  • Metaphyseal Acroscyphodysplasia

    Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement[ncbi.nlm.nih.gov] The differential diagnosis of GNAS- orPDE4D-related disorders from others requires the accurate assess-ment for features of acrodysostosis type 2 (depressed nasal root,short[docslide.us] […] nose with broad nasal tip, and short philtrum), PHP (roundface, brachydactyly, short stature, obesity, and intellectual im-pairment), and endocrinological abnormality.In[docslide.us]

  • Humero-Radial Synostosis

    The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency[ncbi.nlm.nih.gov] nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low set ears Anteverted / prominent / bat ears Sprengel anomaly Inguinal hernia Scoliosis Limb deficiency - ray[mediscansystems.org] Brachymesophalangy B. Apical dystrophy C. Drinkwater type D. Brachymegalodactyly ( stub thumb) E.[slideshare.net]

  • Oculo-Osteo-Cutaneous Syndrome

    2 and 5 Brachymesophalangy mesomelic short limbs osseous anomalies Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia[bioreference.net] nasal ridge Hip dislocation Multiple lentigines Dysarthria Optic atrophy Frontal bossing Hydrocephalus Hydroureter Visual impairment Abnormal form of the vertebral bodies[mendelian.co] Brachydactyly type A7 Brachydactyly type B Brachydactyly type C Brachydactyly type E Brachydactyly types B and E combined Brachym–Brachyt Brachymesomelia renal syndrome Brachymesophalangy[en.wikipedia.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Musculoskeletal abnormalities present in 88% of cases [ 4 ], are varied, they include brachydactyly type 5, brachymesophalangy, clinodactyly of the 5th finger, scoliosis,[omicsonline.org] nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia (the jaw is set back) Short philtrum (space between upper[bohring-opitz.org] […] bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary region, malaligned teeth, flattened occiput, inferiolaterally displaced nipple, partial syndactyly[chr7.org]

  • Ballard Syndrome

    2 and 5 Brachymesophalangy mesomelic short limbs osseous anomalies Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia[en.wikipedia.org] Asymmetry of the nasal septum is often due to in utero positioning. If it can be corrected by depression of the tip of the nose, it will usually resolve on its own.[aafp.org] Most widely used system is Bell's classification which delineates 5 major types (A-E) - type A - (brachymesophalangy) type A1: Farabee type type A2: Mohr-Wriedt type type[radiopaedia.org]

  • Robinow Syndrome

    […] documenting new families - Medical Manifestations - Mild to moderate short stature (dwarfism) - Short lower arms (mesomelic brachymelia - Small hands with clindodactyly and brachymesophalangy[ibis-birthdefects.org] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] 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 Forked[rarediseases.info.nih.gov]

  • Malpuech Syndrome

    Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome? Am J Med Genet 2001 ; 98 : 263 –8.[jmg.bmj.com] […] base with depressed nasal tip.[jclpca.org] […] angle and shallow mentolabial sulcus; competent lips with scar seen bilaterally on upper lip with the history operated bilateral cleft lip at the age of 3 months and wide nasal[jclpca.org]

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