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633 Possible Causes for Mental Retardation, Retrognathia, Short Neck

  • 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] Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable.[link.springer.com]

  • 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] From Wikidata Jump to navigation Jump to search Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion[wikidata.org]

  • 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] RETARDATION.[hon.ch]

  • 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] Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family[ncbi.nlm.nih.gov]

  • 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] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Percent of people who have these symptoms is not available through HPO Abnormality[rarediseases.info.nih.gov]

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] A review of the literature showed a 1993 case report of a 5-year-old boy with mental retardation, body overgrowth, remarkable facies, and AN, which was termed Morfan syndrome[mdedge.com] retardation.4 Disruption of the development of embryonal ectoderm has been implicated in this syndrome, explaining the constellation of symptoms discussed.[docksci.com]

  • Crouzon Syndrome

    […] intubated the trachea using airway exchange catheter inserted through LMA Fastrach. [10] Our patient had history and features suggestive of difficult airway (high-arched palate, retrognathia[aeronline.org] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org] retardation.[ncbi.nlm.nih.gov]

  • 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] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com] Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.[symptoma.com]

  • Moebius Syndrome

    He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia[ncbi.nlm.nih.gov] Additional unusual features were short neck and torticollis.[doi.org] OBJECTIVE: To establish the occurrence of mental retardation in a group of patients with Möbius syndrome and subsequently, if mental retardation is absent, to screen major[ncbi.nlm.nih.gov]

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