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430 Possible Causes for Retrognathia, Short Neck, Wide Mouth

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] […] physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short[redalyc.org]

  • 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] mouth with a large tongue Short and wide neck Ear malformations Inability to secrete tears Excessive hairiness Neurological problems: Severe developmental delay/intellectual[patientworthy.com] , and a short neck.[ncbi.nlm.nih.gov]

  • 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] Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips[diseaseinfosearch.org] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp]

  • 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] […] separated 0000506 U-Shaped upper lip vermilion Carp-like mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth [ more ] 0010806[rarediseases.info.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]

  • 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] mouth with downturned corners, everted vermilion of the lower lip (45%) Cleft lip and palate (10%) Eyes Widely spaced eyes (95%) Bilateral ptosis (90%), which may require[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com]

  • 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] Wide or split uvula (exceedingly rare when compared to Loeys-Dietz syndrome) • Under-developed jaw bones (maxillary hypoplasia) • Small lower jaw (micrognathia) • Low-set[rarediseases.org] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net]

  • 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] Also part of Costello are certain physical traits such as loose skin with deep skin folds and typical facial features such as a wide mouth, low ears and a flat, wide nose.[veradezwarte.nl] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[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] Neck appears wide or web-like. Roof of the mouth is narrow (high palate). Hairline at the back of the head is lower.[medlineplus.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]

  • Temporomandibular Joint Disorder

    Women with TMJ disorders were 4.0 times (95% CI 1.5, 10.8) more likely than controls to have severe retrognathia; no association with mild retrognathia or prognathia was seen[ncbi.nlm.nih.gov] ) when opening their mouth wide.[ncbi.nlm.nih.gov] They may prescribe splint therapy, physical therapy for jaw and neck muscles, short-term muscle relaxers or analgesics, or Botox (botulinum toxin) injections to help ease[health.clevelandclinic.org]

  • 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] It’s definitely unique: I can’t show teeth, and when I smile wide, my mouth just spreads straight across. Photo, Reynard Li.[chatelaine.com] neck Decreased length of neck 0000470 Short phalanx of finger Short finger bones 0009803 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand[rarediseases.info.nih.gov]

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