Multiple abnormalities

Multiple abnormalities
Multiple abnormalities
Specialty	Medical genetics

When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that cannot be primarily identified with a single system of the body or single disease process.^[1] Most medical conditions can have systemic sequelae, but multiple abnormalities occur when the effects on multiple systems is immediately obvious.^[1]

Causes

Abnormalities can have a range of multifactorial causes including; genetic causes, maternal conditions during pregnancy, combination of environment and genetic causes or unknown etiologies.^[2]

References

^ ^a ^b Taylor Wild, K.; Sheppard, Sarah E.; Zackai, Elaine H. (2024). "The Dysmorphic Infant". Avery's Diseases of the Newborn. pp. 335–346.e1. doi:10.1016/B978-0-323-82823-9.00027-1. ISBN 978-0-323-82823-9.
^ Gomella, Tricia Lacy; Eyal, Fabien G; Bany-Mohammed, Fayez, eds. (2020). "Common Multiple Congenital Anomalies: Syndromes, Sequences and Associations". Gomella's Neonatology (8th ed.). McGraw Hill Professional. pp. 853–863. ISBN 978-1-259-64482-5.

External links

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[:0-1] Taylor Wild, K.; Sheppard, Sarah E.; Zackai, Elaine H. (2024). "The Dysmorphic Infant". Avery's Diseases of the Newborn. pp. 335–346.e1. doi:10.1016/B978-0-323-82823-9.00027-1. ISBN 978-0-323-82823-9.

[2] Gomella, Tricia Lacy; Eyal, Fabien G; Bany-Mohammed, Fayez, eds. (2020). "Common Multiple Congenital Anomalies: Syndromes, Sequences and Associations". Gomella's Neonatology (8th ed.). McGraw Hill Professional. pp. 853–863. ISBN 978-1-259-64482-5.

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v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome