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551 Possible Causes for Retrognathia, Short Neck, Turner Syndrome

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] Synonym(s): Male Turner Syndrome / Turner Syndrome, Male / Female Pseudo-Turner Syndrome / Turner's Syndrome, Male [hon.ch]

  • Klippel-Feil Syndrome

    The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion.[ncbi.nlm.nih.gov] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov] A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] This is the test of choice to diagnose Turner syndrome. As a chromosomal condition, there is no cure for Turner syndrome.[en.wikipedia.org]

  • Jacobsen Syndrome

    Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[ncbi.nlm.nih.gov] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov] 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy, other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,[en.wikipedia.org]

  • Trisomy 4p

    […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov] Molar Pregnancy 16 HAIRAN Syndrome 138 Turner Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141[books.google.com]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] Hydronephrosis is only occasionally reported as a feature of a malformation syndrome, such as Johansson-Blizzard syndrome, trisomy 13 and 18, Turner syndrome, triploidy, and[scielo.br]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    […] phalanges of the hand Pneumothorax Hand clenching Broad columella Biventricular hypertrophy Poroma Hypoplastic heart Heterogeneous Alopecia Decreased adipose tissue around neck Retrognathia[mendelian.co] The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[ojrd.biomedcentral.com] How common is Turner syndrome? Turner syndrome occurs in about one in 2,500 females.[patient.info]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] Several genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos syndrome and Aneurysm-osteoarthritis syndrome are associated with[rwjbh.org]

  • Baraitser-Winter Syndrome 1

    There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] Baraitser-Winter syndrome. Neurofibromatosis type 1. Turner syndrome.[patient.info]

  • Micrognathism

    If the infant is not closing down properly, the lower jaws become more noticeably deficient ( micrognathia or retrognathia).[diki.pl] Physical examination showed signs of hypertelorism, down-slanting palpebral fissures, low set posteriorly rotated ears, palpebral ptosis, short neck, micrognathism and short[ncbi.nlm.nih.gov] syndrome type 1 Trichorhinophalangeal syndrome type 3 Turner's syndrome Van Bogaert-Hozay syndrome Wagner vitreoretinal degeneration syndrome Weissenbacher-Zweymuller syndrome[wikidoc.org]

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