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Abnormality of the abdominal wall

MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
Synonym: Abnormality of external features of the abdomen
 
HPO: HP:0004298

Definition

The presence of any abnormality affecting the abdominal wall. [from HPO]

Conditions with this feature

Miller Dieker syndrome
MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
3MC syndrome 1
MedGen UID:
167100
Concept ID:
C0796059
Disease or Syndrome
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC Syndrome Also see 3MC syndrome-2 (3MC2; 265050), caused by mutation in the COLEC11 gene (612502), and 3MC syndrome-3 (3MC3; 248340), caused by mutation in the COLEC1 gene (607620).
Celiac disease, susceptibility to, 1
MedGen UID:
395227
Concept ID:
C1859310
Finding
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.
Larsen-like syndrome, B3GAT3 type
MedGen UID:
480034
Concept ID:
C3278404
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.

Professional guidelines

PubMed

Gefen R, Garoufalia Z, Zhou P, Watson K, Emile SH, Wexner SD
Tech Coloproctol 2022 Nov;26(11):863-874. Epub 2022 Aug 1 doi: 10.1007/s10151-022-02656-3. PMID: 35915291
Michalska A, Rokita W, Wolder D, Pogorzelska J, Kaczmarczyk K
Ginekol Pol 2018;89(2):97-101. doi: 10.5603/GP.a2018.0016. PMID: 29512814
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Chuaire Noack L
Colomb Med (Cali) 2021 Jul-Sep;52(3):e4004227. Epub 2021 Sep 30 doi: 10.25100/cm.v52i3.4227. PMID: 35431359Free PMC Article
Slater BJ, Pimpalwar A
Neoreviews 2020 Jun;21(6):e383-e391. doi: 10.1542/neo.21-6-e383. PMID: 32482700
Beaudoin S
Semin Pediatr Surg 2018 Oct;27(5):283-288. Epub 2018 Aug 27 doi: 10.1053/j.sempedsurg.2018.08.005. PMID: 30413258
Chakhunashvili DG, Lomidze N, Karalashvili L, Kikalishvili L, Chakhunashvili K, Kakabadze Z
Georgian Med News 2018 Mar;(276):24-33. PMID: 29697377
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672

Diagnosis

Khan FA, Raymond SL, Hashmi A, Islam S
Semin Pediatr Surg 2022 Dec;31(6):151230. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151230. PMID: 36446303
Staab V
Surg Clin North Am 2022 Oct;102(5):809-820. Epub 2022 Sep 13 doi: 10.1016/j.suc.2022.07.011. PMID: 36209747
Slater BJ, Pimpalwar A
Neoreviews 2020 Jun;21(6):e383-e391. doi: 10.1542/neo.21-6-e383. PMID: 32482700
Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM
Prenat Diagn 2016 Dec;36(13):1270-1275. Epub 2016 Dec 9 doi: 10.1002/pd.4971. PMID: 27859469
Katorza E, Achiron R
Clin Obstet Gynecol 2012 Mar;55(1):199-216. doi: 10.1097/GRF.0b013e3182446ae9. PMID: 22343239

Therapy

Williams AB, Williams ZB
J Med Radiat Sci 2021 Dec;68(4):446-452. Epub 2021 Jun 18 doi: 10.1002/jmrs.522. PMID: 34145780Free PMC Article
Brener-Chaoul M, Cervantes-Gutiérrez Ó, Padilla-Longoria R, Martín-Téllez KS
Gac Med Mex 2020;156(5):439-445. doi: 10.24875/GMM.M20000440. PMID: 33372933
Chirica M, Kelly MD, Siboni S, Aiolfi A, Riva CG, Asti E, Ferrari D, Leppäniemi A, Ten Broek RPG, Brichon PY, Kluger Y, Fraga GP, Frey G, Andreollo NA, Coccolini F, Frattini C, Moore EE, Chiara O, Di Saverio S, Sartelli M, Weber D, Ansaloni L, Biffl W, Corte H, Wani I, Baiocchi G, Cattan P, Catena F, Bonavina L
World J Emerg Surg 2019;14:26. Epub 2019 May 31 doi: 10.1186/s13017-019-0245-2. PMID: 31164915Free PMC Article
Besch BM, Curtin K, Ritch R, Allingham RR, Wirostko BM
JAMA Ophthalmol 2018 Dec 1;136(12):1368-1374. doi: 10.1001/jamaophthalmol.2018.4157. PMID: 30242396Free PMC Article
Hong CR, Zurakowski D, Fullerton BS, Ariagno K, Jaksic T, Mehta NM
JPEN J Parenter Enteral Nutr 2018 Jul;42(5):913-919. Epub 2018 Jan 8 doi: 10.1002/jpen.1022. PMID: 29338079

Prognosis

Slater BJ, Pimpalwar A
Neoreviews 2020 Jun;21(6):e383-e391. doi: 10.1542/neo.21-6-e383. PMID: 32482700
Hijkoop A, IJsselstijn H, Wijnen RMH, Tibboel D, Rosmalen JV, Cohen-Overbeek TE
Arch Dis Child Fetal Neonatal Ed 2018 Mar;103(2):F126-F131. Epub 2017 Jun 14 doi: 10.1136/archdischild-2016-312417. PMID: 28615305
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
Puvabanditsin S, Di Stefano V, Garrow E, Wong R, Eng J, Balbin J
Hong Kong Med J 2013 Oct;19(5):447-50. doi: 10.12809/hkmj133737. PMID: 24088589
Hassett S, Smith GH, Holland AJ
Pediatr Surg Int 2012 Mar;28(3):219-28. Epub 2011 Dec 25 doi: 10.1007/s00383-011-3046-6. PMID: 22198807

Clinical prediction guides

Tauriainen A, Harju S, Raitio A, Hyvärinen A, Tauriainen T, Helenius I, Vanamo K, Saari A, Sankilampi U
Eur J Pediatr 2023 Dec;182(12):5615-5623. Epub 2023 Oct 11 doi: 10.1007/s00431-023-05217-4. PMID: 37819418Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Saxena AK, Raicevic M
Minerva Pediatr 2018 Jun;70(3):289-295. Epub 2017 Nov 21 doi: 10.23736/S0026-4946.17.05109-X. PMID: 29160639
Hijkoop A, IJsselstijn H, Wijnen RMH, Tibboel D, Rosmalen JV, Cohen-Overbeek TE
Arch Dis Child Fetal Neonatal Ed 2018 Mar;103(2):F126-F131. Epub 2017 Jun 14 doi: 10.1136/archdischild-2016-312417. PMID: 28615305
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581

Recent systematic reviews

Oumarou M, Panait N, El Khoury E, Hamidou Z, Pinol J, Barila Lompe P, Merrot T, Faure A, Dariel A
Pediatr Surg Int 2024 Jul 2;40(1):166. doi: 10.1007/s00383-024-05739-4. PMID: 38954216
Gefen R, Garoufalia Z, Zhou P, Watson K, Emile SH, Wexner SD
Tech Coloproctol 2022 Nov;26(11):863-874. Epub 2022 Aug 1 doi: 10.1007/s10151-022-02656-3. PMID: 35915291
Ahn D, Kim J, Kang J, Kim YH, Kim K
Acta Obstet Gynecol Scand 2022 May;101(5):484-498. Epub 2022 Mar 14 doi: 10.1111/aogs.14339. PMID: 35288928Free PMC Article
Bettenworth D, Bokemeyer A, Baker M, Mao R, Parker CE, Nguyen T, Ma C, Panés J, Rimola J, Fletcher JG, Jairath V, Feagan BG, Rieder F; Stenosis Therapy and Anti-Fibrotic Research (STAR) Consortium.
Gut 2019 Jun;68(6):1115-1126. Epub 2019 Apr 3 doi: 10.1136/gutjnl-2018-318081. PMID: 30944110Free PMC Article
Ekenze SO, Ajuzieogu OV, Nwomeh BC
Pediatr Surg Int 2016 Mar;32(3):291-9. Epub 2016 Jan 18 doi: 10.1007/s00383-016-3861-x. PMID: 26783085

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