Definitions
- Non-syndromic neurodevelopmental disorder: It is characterized by the absence of associated medical and behavioral signs and symptoms.
- Syndromic neurodevelopmental disorder: It is characterized by the presence of associated medical and behavioral signs and symptoms.
Biological basis of syndromic disorders.
Importance for the investigation of syndromic disorders.
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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
Phenotypic keys to diagnosis of the most recognizable syndromes that occur with neurodevelopmental disorders. For more information, see The Bedside Dysmorphologist.
4P minus syndrome – Greek helmet.
Prader-Willi – Obesity and hyperphagia.
Differential diagnosis of Prader-Willi like syndromes.
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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
Schaaf-Yang syndrome.
P-W like subphenotype of X-fragile.
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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.
Other microdeletion syndromes.
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Angelman syndrome – Absence of language – Fascination with water.
Angelman-like syndromes.
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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
Pitt-Hopkins Syndrome
22q13 Deletion Syndrome
Christianson syndrome
Mowat-Wilson Syndrome
Kleefstra Syndrome
Cornelia de Lange – Eyebrows.
Spectrum of Cohesinopathies and CdL-like.
BROAD THUMB-HALLUX SYNDROME – Thumb.
KBG syndrome – Macrodontia.
Smith-Lemni-Opitz syndrome – Syndactyly of the 2-3 finger.
17p deletion syndrome – Polyembolokoilomania.
KABUK1 – Eyelid clefts.
Other syndromes affecting histones.
Wiedemann-Steiner syndrome.