Adams Oliver syndrome

A rare hereditary congenital disorder with autosomal dominant inheritance. It is characterized by the combination of aplasia cutis congenita (ectodermal dysplasia) of the scalp vertex and terminal transverse limb defects such as, missing limbs, SYNDACTYLY, BRACHYDACTYLY, or oligodactyly. Vascular anomalies including cutis marmorata telangiectatica congenita, PULMONARY HYPERTENSION, PORTAL HYPERTENSION and retinal hypervascularization are frequently observed. CONGENITAL HEART DEFECTS occur in 20% of patients. Mutations in the ARHGAP31 gene have been identified. OMIM: 100300

Also Known As:

Absence defect of limbs, scalp, and skull; Adams-Oliver syndrome; Adams-Oliver syndrome 1; Aplasia Cutis Congenita With Terminal Transverse Limb Defects; Aplasia cutis of the scalp; Congenital Scalp Defects With Distal Limb Reduction Anomalies; Congenital defect of skull and scalp; Familial aplasia cutis congenita of the scalp; Scalp and head syndrome; Scalp defect, congenital; Scalp defects with ectrodactyly

Networked: 20 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pulmonary Hypertension
2.	Bronchitis
3.	Neoplasms (Cancer)
4.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
5.	Retinopathy of Prematurity (Retrolental Fibroplasia)

Experts

1.	Cerikan, Berati: 2 articles (01/2019 - 10/2016)
2.	Schiebel, Elmar: 2 articles (01/2019 - 10/2016)
3.	Alkuraya, Fowzan S: 2 articles (10/2016 - 08/2011)
4.	Shaheen, Ranad: 2 articles (10/2016 - 08/2011)
5.	Hanif, Adam M: 1 article (11/2022)
6.	Hubbard, G Baker: 1 article (11/2022)
7.	Jain, Nieraj: 1 article (11/2022)
8.	Lenhart, Phoebe D: 1 article (11/2022)
9.	Meyer, Benjamin I: 1 article (11/2022)
10.	Williams, Parker J: 1 article (11/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Adams Oliver syndrome:

1.	Retinaldehyde (Retinal)IBA 11/01/2022 - "We present a case of Adams-Oliver syndrome in a 13-year-old patient whose multimodal retinal imaging findings helped direct management. " 11/01/2022 - "Retinal manifestations of Adams-Oliver syndrome as observed with ultra-widefield fundus imaging may resemble those of familial exudative vitreoretinopathy and retinopathy of prematurity. "
2.	PlasticsIBA 12/01/2022 - "In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members. "
3.	Epidermal Growth Factor (EGF)IBA 01/01/2017 - "Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome." 01/23/2015 - "Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome." 03/01/2014 - "Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase." 01/01/2022 - "Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome."
4.	Notch1 ReceptorIBA 08/01/2015 - "Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies."
5.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/01/2018 - "Associated with the rare developmental disorder Adams-Oliver Syndrome (AOS), CdGAP is critical for embryonic vascular development and VEGF-mediated angiogenesis. "
6.	UbiquitinIBA 01/01/2019 - "Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases."
7.	rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA 01/01/2019 - "Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases."
8.	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 10/10/2016 - "Here we show how the acute knockdown of the Adams-Oliver syndrome (AOS) gene DOCK6, coding for a RAC1/CDC42 guanine nucleotide exchange factor, results in strikingly different phenotypes to those generated by genomic DOCK6 disruption. "
9.	Guanidine (Guanidine Nitrate)FDA Link 08/12/2011 - "Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome."
10.	GlycosyltransferasesIBA 01/01/2021 - "Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). "

Therapies and Procedures

1.	Conservative Treatment 10/01/2010 - "Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome." 02/01/1982 - "Conservative management of congenital defect of skull and scalp."
2.	Airway Management 01/01/2021 - "Due to varying presentations of Adams-Oliver syndrome, anesthetic and airway management considerations should be carefully assessed prior to surgery. "
3.	Sutures (Suture) 05/01/2005 - "We report six families in whom more than one member has aplasia cutis of the scalp, all of them with large irregular defects located over the vertex or anterior to the vertex along the sagittal suture. "
4.	Surgical Portasystemic Shunt (Portosystemic Shunt) 06/26/2017 - "Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt."