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26 Possible Causes for Multiple Congenital Anomalies, Short Neck, 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] A wide space, often with a deep fissure between the first and second toes, is also common.[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]

  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Craniofrontonasal Dysplasia

    neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated[familydiagnosis.com] 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Ring Chromosome 10

    congenital anomalies.[hub.hku.hk] 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] […] der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, et al. (2010) Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple[omicsonline.org]

  • Atelosteogenesis

    […] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing[mousephenotype.org] 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] […] type I and III Human diseases in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal[genome.jp]

  • 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] 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] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.com]

  • Trisomy 10p

    Although the translocation also results in monosomy for Xq21-qter, she does not have any major stigmata of Turner’s syndrome, except for a short neck and broad chest, although[jmg.bmj.com] congenital anomalies.[ncbi.nlm.nih.gov] Abstract A female infant with multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]

  • Kleiner Holmes Syndrome

    […] stature Milia Short distal phalanx of the 2nd finger Poor motor coordination Scoliosis Short proximal phalanx of finger Short neck Kyphosis Severe short stature Short proximal[mendelian.co] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] However, chromosomal studies are probably warranted in any child with scalp aplasia cutis congenita associated with multiple congenital anomalies when a specific syndrome[annsaudimed.net]

  • Genee-Wiedemann Syndrome

    The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ( Tracy[mendelian.co] 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Seckel Syndrome

    neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] 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] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index 583[rarediseases.org]

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