Multiple abnormalities

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

1. ↑ 1.0 1.1 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. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2762&sectionid=234453000.

## External links

Classification|

* ICD-10: Q87
* ICD-9-CM: 759.7
* MeSH: D000015

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Congenital abnormality syndromes

Craniofacial|

* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome

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–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
* Caudal regression syndrome
* Ectromelia
* Sirenomelia
* VACTERL association

Overgrowth syndromes|

* Beckwith–Wiedemann syndrome
* Proteus syndrome
* Perlman syndrome
* Sotos syndrome
* Weaver syndrome
* Klippel–Trénaunay–Weber syndrome
* Benign symmetric lipomatosis
* Bannayan–Riley–Ruvalcaba syndrome
* Neurofibromatosis type I

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

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