Intelligence is usually normal in individuals with AOS, although intellectual disability has been described in some individuals. Diagnosis/Testing Most individuals with AOS have a change or mutation in a gene called ARHGAP31. [my46.org]

Internal organ involvement and intellectual disabilities should be considered in the management of these patients. Understanding the molecular pathogenesis of this disorder can pave the way for more efficient diagnostic and therapeutic modalities. [advbiores.net]

However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability. [en.wikipedia.org]

Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008;146A: 488-91. [PUBMED] 6. [advbiores.net]

Other congenital anomalies, including cardiovascular malformations, cleft lip and/or palate, abnormal renal system, and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed. [en.wikipedia.org]

Larger lesion with underlying skull defect requires early surgical intervention to reduce mortality and risk of developmental delay. Our patient had ACC of the scalp along with transverse limb defects, which are classical features of AOS. [ijpd.in]

This can include nail abnormalities, fusion of digits (syndactyly) or short digits (brachydactyly) or missing digits (oligodactyly) Cutis marmorata telangiectatica congenita. [dermnetnz.org]

Symptoms associated with heart failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), failure to grow at the expected rate (failure to thrive), and/or other findings. [rarediseases.org]

2007 10 Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis. 56 Maniscalco M...Sofia M 15948197 2005 11 Abnormal pericyte recruitment as a cause for pulmonary hypertension [malacards.org]

Abnormal pericytal recruitment or coverage of the vasculature was demonstrated in the pathologic examination of a patient with AOS and pulmonary hypertension. [jamanetwork.com]

A relatively large number of non‐familial probands were reported to have hepatoportal sclerosis with portal hypertension and esophageal varices. Non‐familial probands were more likely to have additional anomalies than were familial probands. [onlinelibrary.wiley.com]

[…] anomaly, microphthalmia, fronto-nasal cysts, cleft lip or palate Anesthetic implications: echocardiography; risk of meningitis in the neonatal period in case of skin and bone deficiency, management for the hydrocephalus, verify the absence of portal hypertension [sites.uclouvain.be]

disease. 56 Paltzik RL...Aiello AM 3839451 1985 37 [Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)]. 56 Dubosson JD...Schneider P 752066 1978 38 Hereditary [malacards.org]

- sometimes: congenital heart disease (20%) (tetralogy of Fallot, pulmonary atresia, coarctation of the aorta), esophageal atresia, hepato-portal sclerosis, congenital cataract and other ocular anomalies (DOCK6 mutations), retineal vascularization anomaly [sites.uclouvain.be]

Same patient at age 8 years showing brachydactyly and nail changes. Courtesy of Dr. Rhonda Schnur. [dermatologyadvisor.com]

Figure 2: Brachydactyly and syndactyly of (a) fingers right hand and (b) fifth toes of both feet Click here to view Hemogram and biochemical investigations showed no abnormality, X-ray of the skull, spine, hip, and feet were within normal limits. [ijpd.in]

This can include nail abnormalities, fusion of digits (syndactyly) or short digits (brachydactyly) or missing digits (oligodactyly) Cutis marmorata telangiectatica congenita. [dermnetnz.org]

In addition to scalp defect, the patient also had transverse terminal limb anomalies such as brachydactyly, cutaneous syndactyly, and hypoplastic nails [Figure 1]a,[Figure 1]b,[Figure 1]c. [advbiores.net]

[…] pulmonary arterial hypertension.[14] Other less commonly described associations are various brain anomalies such as polymicrogyria, encephaly, hydrocephaly, cerebral cortical dysplasia, or even acrania, spina bifida, spinaocculta, accessory nipples, and cryptorchidism [ijpd.in]