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265 Possible Causes for Cognitive Developmental Delay, Retrognathia, Short Neck

  • 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] […] patient may present with the craniofacial features like proptosis, myopia, telecanthus, strabismus, hypertelorism, down slanting palpebral fissures, micrognathia and/or retrognathia[panafrican-med-journal.com]

  • 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] Hypotonia and developmental delay are typical in infancy, and mental retardation can be diagnosed in older patients.[ncbi.nlm.nih.gov]

  • Chromosome 17p13.1 Deletion Syndrome

    […] rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia[malacards.org] […] rare chromosomal anomaly syndrome characterized by mild global developmental delay / intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia[rarediseases.info.nih.gov] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.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] […] disabilities — mild to moderate; developmental delay — mild to moderate (milestones like sitting, standing and walking; come at a later period in childhood); children show[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] The following signs and symptoms have been reported in patients: Platelet dysfunction, pancytopenia or thrombocytopenia Speech and motor developmental delay Cognitive impairment[primehealthchannel.com]

  • Verheij Syndrome

    […] the foot Unsteady gait Scrotal hypoplasia Joint hypermobility Decreased nerve conduction velocity Opisthotonus Muscular hypotonia Infantile onset Vomiting Absent speech Retrognathia[mendelian.co] Affiliated tissues include kidney and heart , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation[malacards.org] Comparison of our patients with the six previously published for whom data are available ( Table 1 ) suggests that short stature, relative microcephaly and developmental/cognitive[nature.com]

  • Chromosome 19q13.11 Deletion Syndrome

    […] respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Retrognathia[rarediseases.info.nih.gov] Coxa valga with short, broad femoral necks can be seen.[jmg.bmj.com] Third, these patients had typical facial dysmorphisms, such as thin lips (6/6), micro/retrognathia (6/6), large ears (4/6), and long face (4/6).[degruyter.com]

  • 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] These twins presented with mild developmental delay and developed sensorineural deafness at the age of 4 years.[doi.org]

  • Early Infantile Epileptic Encephalopathy Type 2

    […] teeth Finger clinodactyly Feeding difficulties in infancy Tented upper lip vermilion Short chin Focal seizures with impairment of consciousness or awareness Clinodactyly Retrognathia[mendelian.co] Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] developmental delay and intellectual disability.[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] Most girls with TS will have normal motor, cognitive, and language development although up to 10% may have developmental delay requiring early intervention or special education[medicalhomeportal.org]

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