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166 Possible Causes for Retrognathia, Short Neck, Widely Spaced Nipples

  • 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] nipples.[jmg.bmj.com] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net]

  • 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]

  • 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] Chest and skeletal malformations consist of widely spaced nipples, abnormal vertebral and pelvic stance, hypoplastic ribs and limb abnormalities.[moh-it.pure.elsevier.com] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[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] […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Abnormal bleeding Bleeding[rarediseases.info.nih.gov] 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]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    Ultrasonography demonstrated fetal hydrops, poren- cephalic cyst, severe retrognathia (A), omphalocele, and short ribs (B) and limbs (C). Fig. 2.[documents.tips] […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 57 Last updated: 5/1/2019 If you need medical advice,[rarediseases.info.nih.gov] […] finger ; Short foot ; Short long bone ; Short neck ; Short palm ; Short ribs ; Short thorax ; Short toe ; Splenomegaly ; Thoracic dysplasia ; Ventricular septal defect ;[mousephenotype.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] […] laxa Generalized hirsutism Hepatic fibrosis Insulin resistance Calcification of the auricular cartilage Fasting hypoglycemia Pancreatic islet-cell hyperplasia Wide nose Retrognathia[mendelian.co]

  • 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]

  • 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] spaced nipples; Supernumerary nipple ABDOMEN: [Pancreas]; Hyperechogenic pancreas; [Gastrointestinal]; Severe gastroesophageal reflux; Malrotation; Poor feeding GENITOURINARY[findzebra.com] , and a short neck.[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] The chest is broad with widely spaced nipples and a specific chest shape which consists of pectus carinatum superiorly and pectus excavatum inferiorly.[patient.info] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com]

  • Ring Chromosome 10

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal[rarediseases.info.nih.gov] 12955771 48-51, XY, 2-5mar de novo/ 46, XY [r(6) in 68%, r(12) in 24%, r(7) in 18%, r(19) in 14% of cells, r(10)] hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia[chr7.org]

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