Definiciones.
  • Trastorno del neurodesarrollo no sindrómico: Se caracteriza por la ausencia de signos y síntomas médicos y conductuales asociados.
  • Trastorno del neurodesarrollo sindrómico: Se caracteriza por la presencia de signos y síntomas médicos y conductuales asociados.
Bases biológicas de los trastornos sindrómicos.
Importancia para la investigación de los trastornos sindrómicos.
Home
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1.
Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci [Internet]. 2016 Nov [cited 2023 Jan 30];19(11):1408–17. Available from: https://www.nature.com/articles/nn.4420
Claves fenotípicas para el diagnóstico de los síndromes más reconocibles que cursan con trastornos del neurodesarrollo. Para más información consultar en The Bedside Dysmorphologist.
Síndrome de Wolf-Hirschhorn – Greek helmet.
Prader-Willi – Obesidad e hiperfagia.

Diagnóstico diferencial de los síndromes Prader-Willi like.

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1.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature. Endocrine Reviews [Internet]. 2022 Feb 1 [cited 2022 May 25];43(1):1–18. Available from: https://doi.org/10.1210/endrev/bnab026
Síndrome de Schaaf-Yang.
Subfenotipo P-W like del X-fragil.
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1.
Nowicki ST, Tassone F, Ono MY, Ferranti J, Croquette MF, Goodlin-Jones B, et al. The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr. 2007 Apr;28(2):133–8.
Otros síndromes de microdelección.
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1.
Rocha CF, Paiva CL. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res [Internet]. 2014 [cited 2016 Sept 26];13(1):2290–8. Available from: http://www.geneticsmr.com/year2014/vol13-1/pdf/gmr4395.pdf
Síndrome de Angelman – Ausencia de lenguaje – Fascinación por el agua.

Síndromes Angelman-like.

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1.
Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman-like syndromes. American Journal of Medical Genetics Part A [Internet]. 2014 [cited 2015 May 29];164(4):975–92. Available from: http://doi.wiley.com/10.1002/ajmg.a.36416
Síndrome Pitt-Hopkins.

Síndrome de Phelan-McDermid

Síndrome de Christianson

Síndrome de Mowat-Wilson

Síndrome de Kleefstra

Cornelia-LangeDescarga
Espectro de las Cohesinopatías y CdL-like.

Pulgar
KBG syndrome – Macrodontia.
Síndrome de Smith-Lemni-Opitz – Sindactilia del 2-3 dedo.
Síndrome de Smith-Magenis – Poliembolokoilomania.
Síndrome de Kabuki – Hendiduras palpebrales.

Otros síndromes que afectan a las histonas.

Síndrome de Wiedemann-Steiner.

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