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21 Possible Causes for Excess Nuchal Skin

  • Down Syndrome

    Journal of Pediatric Gastroenterology and Nutrition. 31(3):275-279, SEP 2000 PMID: 10997372 Issn Print: 0277-2116 Publication Date: 2000/09/01 Checking for direct PDF access through Ovid Abstract Background Numerous studies in Europe have documented a high prevalence of celiac disease in Down syndrome. This study[…][dx.doi.org]

  • Noonan Syndrome

    nuchal skin and low posterior hairline Children [ edit ] Facial appearance lacks expression (resembles individual with myopathy) Adolescence [ edit ] Facial shape inverted[en.wikibooks.org] nuchal skin with low posterior hair line (55%), diamond shaped eyebrows and curly hair.[indianpediatrics.net] This swelling subsequently regresses and results in excess nuchal skin and pterygium colli after birth.[ojrd.biomedcentral.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    nuchal skin without pterygium colli - Long / large ear - Micropenis / small penis / agenesis - Mouth held open - Ptosis - Seizures / epilepsy / absences / spasms / status[csbg.cnb.csic.es] […] palmar crease - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormally placed nipples - Dermoid sinus / dimple / pit (excluding sacral) - Excess[csbg.cnb.csic.es]

  • Watson Syndrome

    nuchal skin with low posterior hair line (55%), diamond shaped eyebrows and curly hair.[indianpediatrics.net] nuchal skin and low posterior hairline Children [ edit ] Facial appearance lacks expression (resembles individual with myopathy) Adolescence [ edit ] Facial shape inverted[en.wikibooks.org] […] rotated ears with a thick helix (90%), a deeply grooved philtrum with high arched palate of the upper lip vermilion border (GSA), high arched palate (45%), micrognathia (25%), excess[indianpediatrics.net]

  • Emanuel Syndrome

    He had remarkable multiple congenital anomalies and craniofacial dysmor- phism which involved ear pits, preauricular tags, Pierre Robin sequence, micrognathia, excess nuchal[scirp.org] skin, and abnormalities in ear shape, size, and position.[scirp.org]

  • Leontiasis Ossium

    nuchal skin with low posterior hair line (55%), diamond shaped eyebrows and curly hair.[indianpediatrics.net] […] rotated ears with a thick helix (90%), a deeply grooved philtrum with high arched palate of the upper lip vermilion border (GSA), high arched palate (45%), micrognathia (25%), excess[indianpediatrics.net]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    nuchal skin (increased nuchal translucency) What medical conditions are associated with Down Syndrome?[brainscape.com] Transverse palmar (Simian) crease - Clinodactyly - Absent middle phalanx of the 5th finger Toes - Wide "sandal" gap between the big and second toe Skeletal - Short stature - Excess[brainscape.com]

  • Noonan Syndrome with Multiple Lentigines

    nuchal skin and widely spaced nipples were observed ( Figure 1a ).[nature.com] nuchal skin and low posterior hairline Children [ edit ] Facial appearance lacks expression (resembles individual with myopathy) Adolescence [ edit ] Facial shape inverted[en.wikibooks.org] […] ptosis, blue–green irides, short nose with a wide base and depressed nasal bridge, low-set and posteriorly angulated ears with thick helices, micrognathia, short neck with excessive[nature.com]

  • LEOPARD Syndrome

    nuchal skin and widely spaced nipples were observed ( Figure 1a ).[nature.com] The neck can be short with excess nuchal skin and a low posterior hairline. Hearing.[ncbi.nlm.nih.gov] […] ptosis, blue–green irides, short nose with a wide base and depressed nasal bridge, low-set and posteriorly angulated ears with thick helices, micrognathia, short neck with excessive[nature.com]

  • Chromosome Aberration

    Clinical findings Newborn – hypotonia, increased sleepiness, excess nuchal skin Mental retardation Small stature Craniofacial findings – brachycephaly ( flat occiput ), epicanthic[slideshare.net]

Further symptoms