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12 Possible Causes for Short Neck, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • Down Syndrome

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov]

  • Ring Chromosome 10

    neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases[malacards.org]

  • Seckel Syndrome

    neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] .; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck. Oxford, England: Oxford University Press:440-80.[rarediseases.about.com]

  • Atelosteogenesis Type 2

    […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] transverse palmar creases.[documents.tips] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Adactyly of Foot

    Additional unusual features were short neck and torticollis.[ojrd.biomedcentral.com] […] palpebral fissure Death in infancy Single transverse palmar crease Thin vermilion border Joint hyperflexibility Postnatal growth retardation Monorchism Need help with a diagnosis[mendelian.co] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Acrofacial Dysostosis Type Catania

    (a) Frontal image: broad forehead, ptosis, short downslanting palpebral fissures, a prominent nose, deep philtrum, micrognathia, and a webbed neck.[docksci.com] The signs and symptoms of Acrofacial Dysostosis, Catania type may include: Widow's peak Single transverse palmar crease Very frequently present symptoms in 80-99% of the cases[dovemed.com] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

  • Cutis Laxa

    neck and diastase of the abdominal muscles.[scielo.br] From a critical point of view, we noticed that the correction was not optimal in the neck and submental area, and we have recommended further surgery focused on that area.[clinmedjournals.org] […] hands and back of the neck.[ispub.com]

  • Baraitser Syndrome

    In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] transverse palmar crease Intestinal malrotation Premature birth Growth hormone deficiency Fine hair Hypoglycemia Macrocephaly Frontal bossing Behavioral abnormality Pes planus[mendelian.co] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • MORM Syndrome

    neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia (small jaw), tooth enamel defects, short stature, microcephaly (small head), a prominent[en.wikipedia.org] transverse palmar crease 0000954 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Thick corpus callosum 0007074 Thoracic[rarediseases.info.nih.gov] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips , and sloping underchin[britannica.com]

  • Macrocephaly-Developmental Delay Syndrome

    neck q32 qter 18056692 older sister has ventricular septal defect Edit 26 18056692_1 46,XY, der(5)t(5;7)(q35;?)[chr7.org] transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

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