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553 Possible Causes for Failure to Thrive, 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] […] to thrive.[checkorphan.org]

  • Costello Syndrome

    Other clinical features included ptosis, telecanthus, posteriorly rotated ears, deviated nasal septum, dental crowding, retrognathia, slightly large appearing hands without[journals.plos.org] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov] We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome.[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] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[ncbi.nlm.nih.gov]

  • Freeman-Sheldon Syndrome

    Patient had retrognathia with pouting of lips [Figure 1], microstomia, ulnar deviation of fingers, bilateral congenital talipes equinovarus and knee dislocation.[ijaweb.org] Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.[fsrgroup.org] The combination of these manifestations leads to an increased susceptibility to dental crowding, dysphagia, failure to thrive, and impaired speech.[symptoma.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[jhu.pure.elsevier.com] 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] Features typical for distal 22q trisomy in our patients include muscular hypotonia and prenatal failure to thrive, seen in 2 and 1 cases, respectively.[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] Additional physical findings may include a receding jaw (retrognathia), crossed eyes (strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof[rarediseases.org]

  • Chromosome 16q22 Deletion Syndrome

    Note the dysplastic, small, and deeply set ears with a single left sided preauricular appendage, and retrognathia.[jmg.bmj.com] Clinical features Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Epicanthus Frontal bossing High forehead High palate Hypertelorism[familydiagnosis.com] The patients presented with distinct and recognizable symptoms characterized by failure to thrive and dysmorphic facial features.[ashg.org]

  • Trisomy 12p

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia).[rarediseases.org] neck and short hands and toes The mean age at the time of diagnosis was about 2.5 years of age (ranging between one day-7 years 10/12).[molecularcytogenetics.biomedcentral.com]

  • 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] Her growth curve is below the third centile, indicating failure to thrive.[nature.com]

  • Hypertrichotic Osteochondrodysplasia

    Micromelia Narrow chest Arrhythmia Finger syndactyly Short finger Abnormality of the metaphysis Gingival overgrowth Ptosis Failure to thrive X-linked recessive inheritance Retrognathia[mendelian.co] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] […] to thrive- microcephaly syndrome 2 Cases 55654 Hypotrichosis simplex 38 Cases 1573 Hypotrichosis with juvenile macular degeneration 50 Cases 330029 Hypotrichosis-deafness[azkurs.org]

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